The following is a list of peer reviewed publications in which Golden Helix® software has been cited.

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2024 Publications

Lise Graversen, Mette Sommerlund, Casper Kruse, Hans Gjørup, Pernille Axel Gregersen, Uffe Birk Jensen, Jenny Blechingberg, Hypohidrotic Ectodermal Dysplasia caused by an intragenic duplication in EDAR, European Journal of Medical Genetics, 2024, 104982, ISSN 1769-7212, https://doi.org/10.1016/j.ejmg.2024.104982
Ogweng, P., Bowden, C.F., Smyser, T.J. et al. Ancestry and genome-wide association study of domestic pigs that survive African swine fever in Uganda. Trop Anim Health Prod 56, 366 (2024). https://doi.org/10.1007/s11250-024-04195-5
Sonkodi, B.; Kováts, T.; Gálik, B.; Tompa, M.; Urbán, P.; Nagy, Z.F.; Ács, P.; Tóth, M.; Gyenesei, A. Prohibited Olympic Medalist with PIEZO1 VUS Who Claims Innocence. Int. J. Mol. Sci. 2024, 25, 11842. https://doi.org/10.3390/ijms252111842
Jepsen, W.M.; Fazenbaker, A.; Ramsey, K.; Bonfitto, A.; Naymik, M.; Turner, B.; Sloan, J.; Tiwari, N.; Bernes, S.M.; Neilson, D.E.; et al. Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene. Int. J. Mol. Sci. 2024, 25, 11922. https://doi.org/10.3390/ijms252211922
Wang, A., Fairhurst, AM., Liu, K. et al. KLF13 promotes SLE pathogenesis by modifying chromatin accessibility of key proinflammatory cytokine genes. Commun Biol 7, 1446 (2024). https://doi.org/10.1038/s42003-024-07099-0
Wongboonsin, Janewit1,2; Greenberg, Anya3; Mcnulty, Michelle3; Onuchic-Whitford, Ana C.2,3; Lee, Dongwon3; Nigwekar, Sagar U.5; Sampson, Matt G.3,4. Kidney Outcomes in APOL1 High-Risk and Mendelian Variant in Patients with Adult Nephrotic Syndrome in Mass General Brigham Biobank: FR-PO644. Journal of the American Society of Nephrology 35(10S):10.1681/ASN.2024zknp8q18, October 2024. | DOI: 10.1681/ASN.2024zknp8q18
Brinch, H.H., Byrjalsen, A., Lohse, Z. et al. Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome. Familial Cancer 24, 3 (2025). https://doi.org/10.1007/s10689-024-00428-6
Jeff Granhøj, Dorte L Lildballe, Katja V Pedersen, Birgitte G Tougaard, Martin Sokol, Mads M Aagaard, Annabeth H Petersen, Tilde Kristensen, Malene Djursby, Henrik Birn, Maria Rasmussen, MUC1-associated autosomal dominant tubulointerstitial kidney disease: prevalence in kidney failure of undetermined aetiology and clinical insights from Danish families, Clinical Kidney Journal, 2024;, sfae355, https://doi.org/10.1093/ckj/sfae355
Suarez, E.M.; Kelson, V.C.; Kiser, J.N.; Davenport, K.M.; Murdoch, B.M.; Neibergs, H.L. Genomic Regions Associated with Spontaneous Abortion in Holstein Heifers. Genes 2024, 15, 1498. https://doi.org/10.3390/genes15121498
Rout, M.; Vaughan, A.; Sidorov, E.V.; Sanghera, D.K. Improving Stroke Outcome Prediction Using Molecular and Machine Learning Approaches in Large Vessel Occlusion. J. Clin. Med. 2024, 13, 5917. https://doi.org/10.3390/jcm13195917
Biswas, Shristi, et al. "Germline Genetic Variants in a Case of Familial Cancer: RAD51D and Four Other Co-Segregated Variants." Journal of Genetics, vol. 103, 10 Oct. 2024, doi:10.1007/s12041-024-01481-x
Šimon, Martin, et al. "A Bioinformatics Toolbox to Prioritize Causal Genetic Variants in Candidate Regions." Trends in Genetics, Elsevier, 16 Oct. 2024, doi:10.1016/j.tig.2024.09.007
John, S., Klumsathian, S., Charoenyingwattana, A., Sura, T., Dejsuphong, D., Sritara, P., Vathesatogkit, P., Thongchompoo, N., Thabthimthong, W., Teerakulkittipong, N., Chantratita, W., & Sukasem, C. (2024). Thai pharmacogenomics database −2 (TPGxD-2) sequel to TPGxD-1, analyzing genetic variants in 26 non-VIPGx genes within the Thai population. Clinical and Translational Science, 17(10), e70019. https://doi.org/10.1111/cts.70019
John S, Klumsathian S, Own-Eium P, Charoenyingwattana A, Eu-Ahsunthornwattana J, Sura T, Dejsuphong D, Sritara P, Vathesatogkit P, Thongchompoo N, Thabthimthong W, Teerakulkittipong N, Chantratita W, Sukasem C. Thai pharmacogenomics database -2 (TPGxD-2) sequel to TPGxD-1, analyzing genetic variants in 26 non-VIPGx genes within the Thai population. Clin Transl Sci. 2024 Oct;17(10):e70019. doi: 10.1111/cts.70019. PMID: 39449569; PMCID: PMC11502937
Miles, A.M.; Posbergh, C.J.; Huson, H.J. Direct Phenotyping and Principal Component Analysis of Type Traits Implicate Novel QTL in Bovine Mastitis through Genome-Wide Association. Animals 2021, 11, 1147. https://doi.org/10.3390/ani11041147
Belnap, N., Ramsey, K., Abraham, A., Ryan, A., Rangasamy, S., Bonfitto, A., Naymik, M., Huentelman, M., Strom, S., Perry, D., Subramaniam, A., Grody, W. W., Szelinger, S., & Narayanan, V. (2024). Expanded carrier screening for inherited genetic disease using exome and genome sequencing. Journal of Genetic Counseling, 00, 1–7. https://doi.org/10.1002/jgc4.1964
Rezoug Z, Totten SP, Szlachtycz D, et al. Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer. JAMA Netw Open. 2024;7(9):e2431427. doi:10.1001/jamanetworkopen.2024.31427
Tom, W.A.; Chandel, D.S.; Jiang, C.; Krzyzanowski, G.; Fernando, N.; Olou, A.; Fernando, M.R. Genotype Characterization and MiRNA Expression Profiling in Usher Syndrome Cell Lines. Int. J. Mol. Sci. 2024, 25, 9993. https://doi.org/10.3390/ijms25189993
Piątkowski, J., Koźluk, K. & Golik, P. Mitochondrial transcriptome of Candida albicans in flagranti — direct RNA sequencing reveals a new layer of information. BMC Genomics 25, 860 (2024). https://doi.org/10.1186/s12864-024-10791-4
Thangpong, Rungroj, et al. "Whole exome sequencing in relapsed or refractory childhood cancer: case series" Asian Biomedicine, vol. 18, no. 4, Sciendo, 2024, pp. 186-191. https://doi.org/10.2478/abm-2024-0025
Villacis, R.A.R.; Côrtes, L.; Basso, T.R.; do Canto, L.M.; Souza, J.S.; Aagaard, M.M.; da Cruz Formiga, M.N.; Aguiar, S., Jr.; Achatz, M.I.; Rogatto, S.R. Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer. Int. J. Mol. Sci. 2024, 25, 10275. https://doi.org/10.3390/ijms251910275
Kamenarova, K., Kachakova-Yordanova, D., Baymakova, M. et al. Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients. Sci Rep 14, 19487 (2024). https://doi.org/10.1038/s41598-024-70514-3
Sarmiento Doncel, S.; Peláez, R.G.; Lapunzina, P.; Corrales-Medina, F.F.; Díaz Mosquera, G.A.; Bonanad, S.; Cortes, J.M.; Cazalla, M.; Gallego, N.; Querol-Giner, F.; et al. Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort. Life 2024, 14, 1041. https://doi.org/10.3390/life14081041
Chao Zhang, Chenghao Li, Jian Zhong Su et al. The Genomic Landscape of Esophageal Squamous Cell Carcinoma Cell Lines, 12 August 2024, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-4743105/v1
Heinz, J. L., Swagemakers, S. M. A., von Hofsten, J., Helleberg, M., Thomsen, M. M., De Keukeleere, K., de Boer, J. H., Ilginis, T., Verjans, G. M. G. M., van Hagen, P. M., van der Spek, P. J., & Mogensen, T. H. (2023). Whole exome sequencing of patients with varicella-zoster virus and herpes simplex virus induced acute retinal necrosis reveals rare disease-associated genetic variants. Frontiers in Molecular Neuroscience, 16, Artikel 1253040. https://doi.org/10.3389/fnmol.2023.1253040
Nisa, W.u., Sandhu, S., Nair, S.K. et al. Insights into maydis leaf blight resistance in maize: a comprehensive genome-wide association study in sub-tropics of India. BMC Genomics 25, 760 (2024). https://doi.org/10.1186/s12864-024-10655-x
Cetica V, Cavallin M, Ricci ML, et alDouble gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A-related disorderJournal of Medical Genetics Published Online First: 31 July 2024. doi: 10.1136/jmg-2024-110101
Echeverría O, Angulo-Aguado M, Vela R, Calderón-Ospina C, Parra K, et al. (2024) The polygenic implication of clopidogrel responsiveness: Insights from platelet reactivity analysis and next-generation sequencing. PLOS ONE 19(7): e0306445. https://doi.org/10.1371/journal.pone.0306445
Tompa, M.; Galik, B.; Urban, P.; Kajtar, B.I.; Kraboth, Z.; Gyenesei, A.; Miseta, A.; Kalman, B. On the Boundary of Exploratory Genomics and Translation in Sequential Glioblastoma. Int. J. Mol. Sci. 2024, 25, 7564. https://doi.org/10.3390/ijms25147564
Faldoni, F.L.C., Bizinelli, D., Souza, C.P. et al. DNA methylation profile of inflammatory breast cancer and its impact on prognosis and outcome. Clin Epigenet 16, 89 (2024). https://doi.org/10.1186/s13148-024-01695-x
Buchberg, Julie1,2; de Stricker, Karin1; Pfeiffer, Per2,3,4; Mortensen, Michael Bau2,4,5; Detlefsen, Sönke1,2,4,∗. Mutational profiling of 103 unresectable pancreatic ductal adenocarcinomas using EUS-guided fine-needle biopsy. Endoscopic Ultrasound ():10.1097/eus.0000000000000072, July 3, 2024. | DOI: 10.1097/eus.0000000000000072
Terri L Young, Kristina Whisenhunt, Sean Martin, Simone Finzi, Stuart Tompson; ANGPTL7 Gene Variants Identified In Patients With Childhood Glaucoma. Invest. Ophthalmol. Vis. Sci. 2024;65(7):4675
Clara Schott, Allison A. Dilliott, Jian Wang, Adam D. McIntyre, Surim Son, Samantha Colaiacovo, Cadence Baker, Lakshman Gunaratnam, Andrew A. House, Shih-Han Susan Huang, Hariharan Iyer, John Johnson, Khaled Lotfy, Mario Masellis, Douglas P. Munoz, Faisal Rehman, Pavel S. Roshanov, Richard H. Swartz, Matthew A. Weir, Robert A. Hegele, Dervla M. Connaughton, Vascular calcification in chronic kidney disease associated with pathogenic variants in ABCC6, Gene, Volume 927, 2024, 148731, ISSN 0378-1119, https://doi.org/10.1016/j.gene.2024.148731
Subhabrata Chakrabarti, Goutham Pyatla, Samir Bera, Ashish Mishra, Satish Baggam, Meha Kabra, Sonika Rathi, Seema Banerjee, Srinivas Marmamula, Anil Mandal, Inderjeet Kaur, Rohit Chandramohan Khanna; Genomic Landscape of Rare and Common Variants in a Longitudinal Cohort Indicates Modifiers of Disease Pathogenesis. Invest. Ophthalmol. Vis. Sci. 2024;65(7):4238.
Heroor, A., Verma, A., Achanta, D.S. et al. Unveiling cystinosis in India. J Rare Dis 3, 25 (2024). https://doi.org/10.1007/s44162-024-00046-x
Gupta, Sonal Omprakash, et al. "Detection of Spondyloepiphyseal Dysplasia Phenotype with CHST3 Mutation in an Asian Indian Family and Outcomes of Index and Subsequent Pregnancy." Journal of Fetal Medicine, vol. EFirst, Thieme Medical and Scientific Publishers Pvt. Ltd., 20 June 2024, doi:10.1055/s-0044-1787666
Subasree Ramakrishnan, Faheem Arshad, Keerthana BS, Arun Gokul Pon, Susan Bosco, Sandeep Kumar, Hariharakrishnan Chidambaram, Subhash Chandra Bose Chinnathambi, Karthik Kulanthaivelu, Gautham Arunachal, Suvarna Alladi; Primary Microgliopathy Presenting as Degenerative Dementias: A Case Series of Novel Gene Mutations from India. Dement Geriatr Cogn Disord Extra 1 January 2024; 14 (1): 14–28. https://doi.org/10.1159/000538145
Kelson, V.C.; Kiser, J.N.; Davenport, K.M.; Suarez, E.M.; Murdoch, B.M.; Neibergs, H.L. Identifying Regions of the Genome Associated with Conception Rate to the First Service in Holstein Heifers Bred by Artificial Insemination and as Embryo Transfer Recipients. Genes 2024, 15, 765. https://doi.org/10.3390/genes15060765
Leighton, D.J., Ansari, M., Newton, J. et al. Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland. J Neurol (2024). https://doi.org/10.1007/s00415-024-12450-w
John S, Klumsathian S, Own-eium P, et al. A comprehensive Thai pharmacogenomics database (TPGxD-1): Phenotype prediction and variants identification in 942 whole-genome sequencing data. Clin Transl Sci. 2024; 17:e13830. https://doi.org/10.1111/cts.13830
Almaani N, Farhan F, Bani Hamad S, et al. Genetic predisposition to early mycosis fungoides: investigating genetic polymorphisms in tissue-resident memory T-cell genes. Journal of International Medical Research. 2024;52(3). doi:10.1177/03000605241239034
"Sousa, A.C.d.S.; Fernandes, B.L.N.C.; da Silva, J.P.A.; Stevanato Filho, P.R.; Coimbra, L.B.d.C.T.; de Oliveira Beserra, A.; Alvarenga, A.L.; Maida, G.; Guimaraes, C.T.; Nakamuta, I.M.; et al. A Case Study of a Rare Undifferentiated Spindle Cell Sarcoma of the Penis: Establishment and Characterization of Patient-Derived Models. Genes 2024, 15, 424. https://doi.org/10.3390/genes15040424
Thompson MA, McCann BE, Rhen T, Simmons R. Population genomics provide insight into ancestral relationships and diversity of the feral horses of Theodore Roosevelt National Park. Ecol Evol. 2024 Apr 1;14(4):e11197. doi: 10.1002/ece3.11197. PMID: 38571790; PMCID: PMC10985374.
Samar M. Esmail, Ibrahim S. Draz, Doaa R. El-Naggar, Diaa Abd El-moneim, Salha M. ALshamrani, Tahiyat Alothaim, Maryam M. Alomran, Les J. Szabo, Phylogenesis of virulent races of Puccinia graminis f. sp. tritici based on phenotyping and genotyping using newly developed SNP markers for genetic groups in clades, Physiological and Molecular Plant Pathology, 2024,102282, ISSN 0885-5765, https://doi.org/10.1016/j.pmpp.2024.102282
Chester Drum, Eugene Goh, Lik Hang Wu et al. Statin Lactone Metabolism is a Determinant of 5-year Cardiovascular Outcomes Independent of Serum Cholesterol, 04 April 2024, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-4023614/v1
Ana Untaroiu, Linda M. Reis, Brian P. Higgins, Ashleigh Walesa, Serena Zacharias, Danica Nikezic, Deborah M. Costakos, Joseph Carroll, Elena V. Semina; In Vivo Assessment of Retinal Phenotypes in Axenfeld–Rieger Syndrome. Invest. Ophthalmol. Vis. Sci. 2024;65(4):20. https://doi.org/10.1167/iovs.65.4.20
Fekete, N.; Li, L.K.; Kozma, G.T.; Fekete, G.; Pállinger, É.; Kovács, Á.F. Flow Cytometry-Based Assay to Detect Alpha Galactosidase Enzymatic Activity at the Cellular Level. Cells 2024, 13, 706. https://doi.org/10.3390/cells13080706
Olga Beltcheva, Kunka Kamenarova, Galia Zlatanova, Kalina Mihova, Dimitar Roussinov, Darina Kachakova, Martin Georgiev, Elena Nikolova, Maria Gaydarova, Vanio Mitev, Radka Kaneva; Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience. Nephron 2024; https://doi.org/10.1159/000538172
Khan, H., Harripaul, R., Mikhailov, A. et al. Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder. Sci Rep 14, 9230 (2024). https://doi.org/10.1038/s41598-024-57942-x
Ngo, K.J., Paul, K.C., Wong, D. et al. Lysosomal genes contribute to Parkinson’s disease near agriculture with high intensity pesticide use. npj Parkinsons Dis. 10, 87 (2024). https://doi.org/10.1038/s41531-024-00703-4
(2024). Kamiński S., Tarczyński K., Oleński K., Zybert A., Sieczkowska H., Krzęcio-Nieczyporuk E., Antosik K., Szwaczkowski T. (2024). Genome-wide association study for meat quality traits in a multi-breed pig population, Annals of Animal Science, DOI: 10.2478/aoas-2024-0013
Pham C, Koopmann TT, Vinocur JM, Blom NA, Nogueira Silbiger V, Mittal K, Bootsma M, Palm KCA, Clur SB, Barge-Schaapveld DQCM, Hamilton RM, Lodder EM. Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia. Clin Genet. 2024 Feb 29. doi: 10.1111/cge.14504. Epub ahead of print. PMID: 38424693.
(2024). Kamiński S., Tarczyński K., Oleński K., Zybert A., Sieczkowska H., Krzęcio-Nieczyporuk E., Antosik K., Szwaczkowski T. (2024). Genome-wide association study for meat quality traits in a multi-breed pig population, Annals of Animal Science, DOI: 10.2478/aoas-2024-0013
Martin Šimon, Špela Mikec, Nicholas M. Morton, Santosh S. Atanur, Simon Horvat, Tanja Kunej, Integration of genomic and transcriptomic data of inbred mouse models for polygenic obesity and leanness revealed “obese” and “lean” candidate alleles in polyadenylation signals, Gene Reports, 2024,101903, ISSN 2452-0144, https://doi.org/10.1016/j.genrep.2024.101903
Pérez EM, Torbay AG, López MS, de la Cámara RCM, Jiménez CR, Álvarez MÁM, Blanco JN, Gianelli C, Hijón CC, Granados EL, Pena RR, Del Pozo Mate Á, García-Morato MB. Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection. Eur J Clin Invest. 2024 Mar 5:e14191. doi: 10.1111/eci.14191. Epub ahead of print. PMID: 38440843.
Martin Šimon, Špela Mikec, Nicholas M. Morton, Santosh S. Atanur, Simon Horvat, Tanja Kunej, Integration of genomic and transcriptomic data of inbred mouse models for polygenic obesity and leanness revealed “obese” and “lean” candidate alleles in polyadenylation signals, Gene Reports, Volume 35, 2024, 101903, ISSN 2452-0144, https://doi.org/10.1016/j.genrep.2024.101903
Karstensen, J.G., Hansen, T.v.O., Burisch, J. et al. Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study. Eur J Hum Genet (2024). https://doi.org/10.1038/s41431-024-01585-z
Pfeifer, M., Rehder, H., Gerykova Bujalkova, M. et al. Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case. Orphanet J Rare Dis 19, 114 (2024). https://doi.org/10.1186/s13023-024-03106-z
Halldór Bjarki Einarsson, Anja Lisbeth Frederiksen, Inge Soekilde Pedersen, Marianne Schmidt Ettrup, Martin Wirenfeldt, Henning Boldt, Nina Nguyen, Marianne Skovsager Andersen, Carsten Reidies Bjarkam, Frantz Rom Poulsen, PDP type brain tumor in association with multiple endocrine neoplasia type 1, Heliyon, Volume 10, Issue 6, 2024, e27418, ISSN 2405-8440, https://doi.org/10.1016/j.heliyon.2024.e27418
Zorc, M.; Horvat, T.; Tanšek, A.; Ferme, T.; Dovˇ c, P. Selection Signatures Reveal Candidate Genes for the Cornish Rex Breed-Specific Phenotype. Genes 2024, 15, 368. https://doi.org/10.3390/ genes15030368
Nathan Fortier, Tina Han, Alessandro Davassi, Alonzo Lee, Tanya Tannous, Gabe Rudy, Andreas Scherer, P715: Analyzing performance of the Twist exome with CNV backbone at various probe densities leveraging Golden Helix VS-CNV, Genetics in Medicine Open, Volume 2, Supplement 1, 2024, 101619, ISSN 2949-7744, https://doi.org/10.1016/j.gimo.2024.101619
Subasree Ramakrishnan, Faheem Arshad, Keerthana BS, Arun Gokul Pon, Susan Bosco, Sandeep Kumar, Hariharakrishnan Chidambaram, Subhash Chandra Bose Chinnathambi, Karthik Kulanthaivelu, Gautham Arunachal, Suvarna Alladi; Primary microgliopathy presenting as degenerative dementias: A case series of novel gene mutations from India. Dement Geriatr Cogn Disord Extra 2024; https://doi.org/10.1159/000538145
Liam E Fouhy, Chao-Qiang Lai, Laurence D Parnell, Katherine L Tucker, José M Ordovás, Sabrina E Noel, Genome-wide association study of osteoporosis identifies genetic risk and interactions with DASH diet and sugar sweetened beverages in a Hispanic cohort of older adults, Journal of Bone and Mineral Research, 2024;, zjae047, https://doi.org/10.1093/jbmr/zjae047
Šimon, M., Mikec, Š., Atanur, S.S. et al. Whole genome sequencing of mouse lines divergently selected for fatness (FLI) and leanness (FHI) revealed several genetic variants as candidates for novel obesity genes. Genes Genom (2024). https://doi.org/10.1007/s13258-024-01507-9
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, et al. Clinical and molecular characterization of patients with YWHAG-related epilepsy. Epilepsia. 2024;00:1–12. https://doi.org/10.1111/epi.17939
Farrokhi, A., Atre, T., Rever, J. et al. The Eμ-Ret mouse is a novel model of hyperdiploid B-cell acute lymphoblastic leukemia. Leukemia (2024). https://doi.org/10.1038/s41375-024-02221-x
Almaani N, Farhan F, Bani Hamad S, et al. Genetic predisposition to early mycosis fungoides: investigating genetic polymorphisms in tissue-resident memory T-cell genes. Journal of International Medical Research. 2024;52(3). doi:10.1177/03000605241239034
Sousa, A.C.d.S.; Fernandes, B.L.N.C.; da Silva, J.P.A.; Stevanato Filho, P.R.; Coimbra, L.B.d.C.T.; de Oliveira Beserra, A.; Alvarenga, A.L.; Maida, G.; Guimaraes, C.T.; Nakamuta, I.M.; et al. A Case Study of a Rare Undifferentiated Spindle Cell Sarcoma of the Penis: Establishment and Characterization of Patient-Derived Models. Genes 2024, 15, 424. https://doi.org/10.3390/genes15040424
Ristanic, M.; Zorc, M.; Glavinic, U.; Stevanovic, J.; Blagojevic, J.; Maletic, M.; Stanimirovic, Z. Genome-Wide Analysis of Milk Production Traits and Selection Signatures in Serbian Holstein-Friesian Cattle. Animals 2024, 14, 669. https://doi.org/10.3390/ani14050669
Ristanic, M.; Zorc, M.; Glavinic, U.; Stevanovic, J.; Blagojevic, J.; Maletic, M.; Stanimirovic, Z. Genome-Wide Analysis of Milk Production Traits and Selection Signatures in Serbian Holstein-Friesian Cattle. Animals 2024, 14, 669. https://doi.org/10.3390/ani14050669
Esteve-Garcia A, Cobos E, Sau C, Padró-Miquel A, Català-Mora J, Barberán-Martínez P, Millán JM, García-García G and Aguilera C (2024) Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype. Front. Genet. 15:1352063. doi: 10.3389/fgene.2024.1352063
Hayashi S, Bandoh N, Hayashi M, et al. Salivary Duct Carcinoma Arising in the Submandibular Gland in a Patient with Neurofibromatosis Type 1. Ear, Nose & Throat Journal. 2024;0(0). doi:10.1177/01455613241231146
Andreas Glenthøj, Andreas Ørslev Rasmussen, Selma Kofoed Bendtsen et al. DAHEAN: A Danish Nationwide Study Ensuring Quality Assurance through Real-World Data for Suspected Hereditary Anemia Patients, 12 February 2024, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-3311637/v1
Kansuttiviwat, C., Lertwilaiwittaya, P., Roothumnong, E. et al. Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand. npj Genom. Med. 9, 9 (2024). https://doi.org/10.1038/s41525-024-00400-4
Kansuttiviwat, C., Lertwilaiwittaya, P., Roothumnong, E. et al. Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand. npj Genom. Med. 9, 9 (2024). https://doi.org/10.1038/s41525-024-00400-4
Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers Isabella Lin, Angela Wei, Tsumugi A Gebo, PC Boutros, Maeve Flanagan, Nicole Kucine, C Cunniff, VA Arboleda, VY Chang medRxiv 2024.02.02.24302163; doi: https://doi.org/10.1101/2024.02.02.24302163
Yuan W, Liu Y, Sun H, Su M, Qin L and Huang X (2024) Case report: Rare oral manifestations in Cowden syndrome with PTEN mutation. Front. Oncol. 14:1323225. doi: 10.3389/fonc.2024.1323225
Ali A, Tabouni M, Kizhakkedath P, Baydoun I, Allam M, John A, Busafared F, Alnuaimi A, Al-Jasmi F and Alblooshi H (2024) Spectrum of genetic variants in bilateral sensorineural hearing loss. Front. Genet. 15:1314535. doi: 10.3389/fgene.2024.1314535
Mireia Costa, Ana León, Óscar Pastor, Improving the Identification of Relevant Variants in Genome Information Systems: A Methodological Approach with a Case Study on Early Onset Alzheimer's Disease, Data & Knowledge Engineering, 2024, 102284, ISSN 0169-023X, https://doi.org/10.1016/j.datak.2024.102284
Bagger, F.O., Borgwardt, L., Jespersen, A.S. et al. Whole genome sequencing in clinical practice. BMC Med Genomics 17, 39 (2024). https://doi.org/10.1186/s12920-024-01795-w
Heinz, J. L., Swagemakers, S. M. A., von Hofsten, J., Helleberg, M., Thomsen, M. M., De Keukeleere, K., de Boer, J. H., Ilginis, T., Verjans, G. M. G. M., van Hagen, P. M., van der Spek, P. J., & Mogensen, T. H. (2023). Whole exome sequencing of patients with varicella-zoster virus and herpes simplex virus induced acute retinal necrosis reveals rare disease-associated genetic variants. Frontiers in Molecular Neuroscience, 16, Article 1253040. https://doi.org/10.3389/fnmol.2023.1253040
Gupta V, Birla S, Varshney T, Somarajan BI, Gupta S, Gupta M, et al. In vivo identification of angle dysgenesis and its relation to genetic markers associated with glaucoma using artificial intelligence. Indian J Ophthalmol 0;0:0
Rout M, Wander GS, Ralhan S, Singh JR, Aston CE, Blackett PR, Chernausek S, Sanghera DK. Assessing the prediction of type 2 diabetes risk using polygenic and clinical risk scores in South Asian study populations. Ther Adv Endocrinol Metab. 2023 Dec 25;14:20420188231220120. doi: 10.1177/20420188231220120. PMID: 38152657; PMCID: PMC10752110
Claudia Scimone, Francesco Pepe, Gianluca Russo, Lucia Palumbo, Glyn Ball, Pascale Morel, Alessandro Russo, Giancarlo Troncone, Umberto Malapelle, Technical evaluation of a novel digital PCR platform for detecting EGFR/KRAS mutations in NSCLC archived plasma specimens, The Journal of Liquid Biopsy, Volume 3, 2024, 100133, ISSN 2950-1954, https://doi.org/10.1016/j.jlb.2023.100133
Danesino, C.; Gualtierotti, M.; Origi, M.; Cistaro, A.; Malacarne, M.; Massidda, M.; Bencardino, K.; Coviello, D.; Albani, G.; Schiera, I.G.; et al. Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome. Diseases 2024, 12, 9. https://doi.org/10.3390/diseases12010009
Shani, S.; Gana-Weisz, M.; Bar-Shira, A.; Thaler, A.; Gurevich, T.; Mirelman, A.; Giladi, N.; Alcalay, R.N.; Goldstein, O.; Orr-Urtreger, A. MAPT Locus in Parkinson’s Disease Patients of Ashkenazi Origin: A Stratified Analysis. Genes 2024, 15, 46. https://doi.org/10.3390/genes15010046
Contreras-Méndez, L.A.; Medrano, J.F.; Thomas, M.G.; Enns, R.M.; Speidel, S.E.; Luna-Nevárez, G.; López-Castro, P.A.; Rivera-Acuña, F.; Luna-Nevárez, P. The Anti-Müllerian Hormone as Endocrine and Molecular Marker Associated with Reproductive Performance in Holstein Dairy Cows Exposed to Heat Stress. Animals 2024, 14, 213. https://doi.org/10.3390/ani14020213
Hlongwane, N.L.; Dzomba, E.F.; Hadebe, K.; van der Nest, M.A.; Pierneef, R.; Muchadeyi, F.C. Identification of Signatures of Positive Selection That Have Shaped the Genomic Landscape of South African Pig Populations. Animals 2024, 14, 236. https://doi.org/10.3390/ani14020236
Cinar MU, Oliveira RD, Hadfield TS, Lichtenwalner A, Brzozowski RJ, Settlemire CT, Schoenian SG, Parker C, Neibergs HL, Cockett NE and White SN (2024) Genome-wide association with footrot in hair and wool sheep. Front. Genet. 14:1297444. doi: 10.3389/fgene.2023.1297444
Hlongwane, N.L.; Dzomba, E.F.; Hadebe, K.; van der Nest, M.A.; Pierneef, R.; Muchadeyi, F.C. Identification of Signatures of Positive Selection That Have Shaped the Genomic Landscape of South African Pig Populations. Animals 2024, 14, 236. https://doi.org/10.3390/ani14020236
Stanojevic A, Spasic J, Marinkovic M, Stojanovic-Rundic S, Jankovic R, Djuric A, Zoidakis J, Fijneman RJA, Castellvi-Bel S and Cavic M (2024) Methylenetetrahydrofolate reductase polymorphic variants C677T and A1298C in rectal cancer in Slavic population: significance for cancer risk and response to chemoradiotherapy. Front. Genet. 14:1299599. doi: 10.3389/fgene.2023.1299599
Schmidt, D.C., Eriksson, F., Bach-Holm, D., Grønskov, K. & Kessel, L. (2024) Long-term risk of glaucoma after cataract surgery in childhood. Acta Ophthalmologica, 00, 1–7. Available from: https://doi.org/10.1111/aos.16636
Briana N Markham, Chloe Ramnarine, Songeun Kim, William E Grever, Alexandra I Soto-Beasley, Michael Heckman, Yingxue Ren, Andrew C Osborne, Aditya V Bhagwate, Yuanhang Liu, Chen Wang, Jungsu Kim, Zbigniew K Wszolek, Owen A Ross, Wolfdieter Springer, Fabienne C Fiesel bioRxiv 2024.01.17.576122; doi: https://doi.org/10.1101/2024.01.17.576122
Wesley Tom, Dinesh S. Chandel, Chao Jiang et al. Characterization of Usher Syndrome Cell line Genotypes and Elucidation of Novel MicroRNA Biomarkers using MicroRNA Microarray and Droplet Digital PCR, 18 January 2024, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-3826668/v1
Replogle, Maria R., Samuel Thompson, Linda M. Reis, and Elena V. Semina. "A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element." Human Mutation, vol. 2024, 2024, pp. 6619280. Hindawi, doi:10.1155/2024/6619280

2023 Publications

Einar Ljungström Elmfors, Andreas Ørslev Rasmussen, Nadine G. Andersson, Annika Martensson, Eva Birgitte Leinoe, Maria Rossing, Eva Zetterberg, High Frequency of Genetic Variants Influencing Diagnosis and Bleeding Pattern in Patients with Presumed Primary Immune Mediated Thrombocytopenia (ITP), Blood, Volume 142, Supplement 1, 2023, Page 2584, ISSN 0006-4971, https://doi.org/10.1182/blood-2023-185765
Muscatello, L.V., Frabetti, S., Avallone, G. et al. Morphologic, phenotypic, and genotypic similarities between primary tumors and corresponding 3D cell cultures grown in a repeatable system—preliminary results. BMC Vet Res 19, 263 (2023). https://doi.org/10.1186/s12917-023-03834-7
Espitia Fajardo M, Rivera Franco N, Braga Y, Barreto G (2023) New Y-SNPs in QM3 indigenous populations of Colombia. PLOS ONE 18(12): e0294516. https://doi.org/10.1371/journal.pone.0294516
Hidalgo J, Estrada-Reyes ZM, Ogunade IM, Pech-Cervantes AA, Terrill T, Idowu MD and Taiwo G (2023) Estimation of genetic parameters for parasite resistance and genome-wide identification of runs of homozygosity islands in Florida Cracker sheep. Front. Anim. Sci. 4:1249470. doi: 10.3389/fanim.2023.1249470
Gupta V, Birla S, Varshney T, Somarajan BI, Gupta S, Gupta M, et al. In vivo identification of angle dysgenesis and its relation to genetic markers associated with glaucoma using artificial intelligence. Indian J Ophthalmol 0;0:0
Rout M, Wander GS, Ralhan S, Singh JR, Aston CE, Blackett PR, Chernausek S, Sanghera DK. Assessing the prediction of type 2 diabetes risk using polygenic and clinical risk scores in South Asian study populations. Ther Adv Endocrinol Metab. 2023 Dec 25;14:20420188231220120. doi: 10.1177/20420188231220120. PMID: 38152657; PMCID: PMC10752110.
Claudia Scimone, Francesco Pepe, Gianluca Russo, Lucia Palumbo, Glyn Ball, Pascale Morel, Alessandro Russo, Giancarlo Troncone, Umberto Malapelle, Technical evaluation of a novel digital PCR platform for detecting EGFR/KRAS mutations in NSCLC archived plasma specimens, The Journal of Liquid Biopsy, Volume 3, 2024, 100133, ISSN 2950-1954, https://doi.org/10.1016/j.jlb.2023.100133
Danesino, C.; Gualtierotti, M.; Origi, M.; Cistaro, A.; Malacarne, M.; Massidda, M.; Bencardino, K.; Coviello, D.; Albani, G.; Schiera, I.G.; et al. Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome. Diseases 2024, 12, 9. https://doi.org/10.3390/diseases12010009
Shani, S.; Gana-Weisz, M.; Bar-Shira, A.; Thaler, A.; Gurevich, T.; Mirelman, A.; Giladi, N.; Alcalay, R.N.; Goldstein, O.; Orr-Urtreger, A. MAPT Locus in Parkinson’s Disease Patients of Ashkenazi Origin: A Stratified Analysis. Genes 2024, 15, 46. https://doi.org/10.3390/genes15010046
Soares de Sá, B.C.; Moredo, L.F.; Torrezan, G.T.; Fidalgo, F.; de Araújo, É.S.S.; Formiga, M.N.; Duprat, J.P.; Carraro, D.M. Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients. Int. J. Mol. Sci. 2023, 24, 15830. https://doi.org/10.3390/ijms242115830
Calderón-Chagoya, R.; Vega-Murillo, V.E.; García-Ruiz, A.; Ríos-Utrera, Á.; Martínez-Velázquez, G.; Montaño-Bermúdez, M. Discovering Genomic Regions Associated with Reproductive Traits and Frame Score in Mexican Simmental and Simbrah Cattle Using Individual SNP and Haplotype Markers. Genes 2023, 14, 2004. https://doi.org/10.3390/genes14112004
Soares de Sá, B.C.; Moredo, L.F.; Torrezan, G.T.; Fidalgo, F.; de Araújo, É.S.S.; Formiga, M.N.; Duprat, J.P.; Carraro, D.M. Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients. Int. J. Mol. Sci. 2023, 24, 15830. https://doi.org/10.3390/ijms242115830
De Luca, C.; Pepe, F.; Russo, G.; Nacchio, M.; Pisapia, P.; Russo, M.; Conticelli, F.; Palumbo, L.; Scimone, C.; Cozzolino, D.; et al. Technical Validation of a Fully Integrated NGS Platform in the Real-World Practice of Italian Referral Institutions. J. Mol. Pathol. 2023, 4, 259-274. https://doi.org/10.3390/jmp4040022
Lukic, B., Curik, I., Drzaic, I. et al. Genomic signatures of selection, local adaptation and production type characterisation of East Adriatic sheep breeds. J Animal Sci Biotechnol 14, 142 (2023). https://doi.org/10.1186/s40104-023-00936-y
Allison L Herrick, Jennifer N Kiser, Holly L Neibergs, PSXII-1 Genetic Regions Associated with Cryptorchidism in Related Wagyu Cattle, Journal of Animal Science, Volume 101, Issue Supplement_3, November 2023, Pages 353–354, https://doi.org/10.1093/jas/skad281.419
Vuong, T. D., Florez-Palacios, L., Mozzoni, L., Clubb, M., Quigley, C., Song, Q., Kadam, S., Yuan, Y., Chan, T. F., Mian, M. A. R., & Nguyen, H. T. (2023). Genomic analysis and characterization of new loci associated with seed protein and oil content in soybeans. The Plant Genome, e20400. https://doi.org/10.1002/tpg2.20400
Sönke Detlefsen, Henning Bünsow Boldt, Mark Burton, Mikkel Marschall Thomsen, Lukas Gammelgaard Rasmussen, Siri Vreim Ørbeck, Per Pfeiffer, Michael Bau Mortensen, Karin de Stricker, High overall copy number variation burden by genome-wide methylation profiling holds negative prognostic value in surgically treated pancreatic ductal adenocarcinoma, Human Pathology, 2023, ISSN 0046-8177, https://doi.org/10.1016/j.humpath.2023.11.002
Yip, S.; Calli, K.; Qiao, Y.; Trost, B.; Scherer, S.W.; Lewis, M.E.S. Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous MYT1L Variant. Genes 2023, 14, 2122. https://doi.org/10.3390/genes14122122
Bowden CF, Kiser JN, Miller RS, Buckley AC, Boggiatto PM, Giglio RM, Brown VR, Garrick D, Neibergs HL, Piaggio AJ, Speidel SE and Smyser TJ (2023) Genomic regions associated with pseudorabies virus infection status in naturally infected feral swine (Sus scrofa). Front. Genet. 14:1292671. doi: 10.3389/fgene.2023.1292671
Caterina de Luca, Gianluca Russo, Mariantonia Nacchio, Maria Ingenito, Lucia Palumbo, Gianluca Gragnano, Floriana Conticelli, Maria Russo, Danilo Rocco, Cesare Gridelli, Roberto Bianco, Domenico Galetta, Giancarlo Troncone, Paola Parente, Antonino Iaccarino, Liquid biopsy for lung cancer: A cross section on the diagnostic routine experience of a referral Italian institution, The Journal of Liquid Biopsy, 2023, 100128, ISSN 2950-1954, https://doi.org/10.1016/j.jlb.2023.100128
Bricknell, Lanaa; Richmond, Christopher M.b; Das Gupta, Romia; Payton, Dianec; Phua, Yuna; Kimble, Roy M.a. Somatic PIK3CA Variants Are Associated With Eccrine Angiomatous Hamartomas. Journal of Vascular Anomalies 4(4):p e071, December 2023. | DOI: 10.1097/JOVA.0000000000000071
Heinz, Johanna L., et al. "Whole exome sequencing of patients with varicella-zoster virus and herpes simplex virus induced acute retinal necrosis reveals rare disease-associated genetic variants." Frontiers in Molecular Neuroscience, vol. 16, 2023, doi:10.3389/fnmol.2023.1253040 https://www.frontiersin.org/articles/10.3389/fnmol.2023.1253040/full
Mehta A, Diwan H, Nathany S, Mattoo S, Kumar D, Panigrahi MK. L858R-K860I Doublet Mutation of EGFR gene in Non-Small Cell Lung Carcinoma: Cause of a False Negative Call for L858R on Initial Companion Diagnostic Test. Journal of Current Oncology. 2023;0(0). doi:10.1177/25898892231195502
Gallego-Zazo, N.; Miranda-Alcaraz, L.; Cruz-Utrilla, A.; del Cerro Marín, M.J.; Álvarez-Fuente, M.; del Mar Rodríguez Vázquez del Rey, M.; Guillén Rodríguez, I.; Becerra-Munoz, V.M.; Moya-Bonora, A.; Ochoa Parra, N.; et al. Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature. Genes 2023, 14, 1965. https://doi.org/10.3390/genes14101965
Gallego-Zazo, N.; Miranda-Alcaraz, L.; Cruz-Utrilla, A.; del Cerro Marín, M.J.; Álvarez-Fuente, M.; del Mar Rodríguez Vázquez del Rey, M.; Guillén Rodríguez, I.; Becerra-Munoz, V.M.; Moya-Bonora, A.; Ochoa Parra, N.; et al. Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature. Genes 2023, 14, 1965. https://doi.org/10.3390/genes14101965
Reis, L.M.; Amor, D.J.; Haddad, R.A.; Nowak, C.B.; Keppler-Noreuil, K.M.; Chisholm, S.A.; Semina, E.V. Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum. Genes 2023, 14, 1948. https://doi.org/10.3390/genes14101948
Bilgen N, Çınar Kul B, Akkurt MY, et al. Cardiomyopathy associated 5 (CMYA5) implicated as a genetic risk factor for radial hemimelia in Siamese cats. Journal of Feline Medicine and Surgery. 2023;25(10). doi:10.1177/1098612X231193557
Francesca Bernini, Chiara Punturiero, Mario Vevey, Veruska Blanchet, Raffaella Milanesi, Andrea Delledonne, Alessandro Bagnato & Maria Giuseppina Strillacci (2023) Assessing major genes allele frequencies and the genetic diversity of the native Aosta cattle female population, Italian Journal of Animal Science, 22:1, 1008-1022, DOI: 10.1080/1828051X.2023.2259221
Jensen, Marlene & Jelsig, Anne & Gerdes, Anne-Marie & Hölmich, Lisbet & Kainu, Kati & Lorentzen, Henrik & Hansen, Mary & Bak, Mads & Johansson, Peter & Hayward, Nicholas & Hansen, Thomas & Wadt, Karin. (2023). TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma. Human Genetics and Genomics Advances. 4. 100225. 10.1016/j.xhgg.2023.100225
Angela K Lucas-Herald, Augusto C Montezano, Rheure Alves-Lopes, Laura Haddow, Stuart O’Toole, Martyn Flett, Boma Lee, S Basith Amjad, Mairi Steven, Jane McNeilly, Katriona Brooksbank, Rhian M Touyz, S Faisal Ahmed, Effects of sex hormones on vascular reactivity in boys with hypospadias, The Journal of Clinical Endocrinology & Metabolism, 2023;, dgad525, https://doi.org/10.1210/clinem/dgad525
Abou Haidar L, Pachnis P, Gotway GK, Ni M, DeBerardinis RJ, McNutt MC. Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management. JIMD Reports. 2023;1‐7. doi:10.1002/jmd2.12388
Illi, C, Koenigbauer, J, Henrich, W, et al. Fetal de novo heterozygous variant in the isocitrate dehydrogenase 1 gene associated with growth restriction, skeletal, cerebral and vascular anomalies. Prenat Diagn. 2023; 1-4. https://doi.org/10.1002/pd.6433
Fukasaku, H., Meguro, A., Takeuchi, M. et al. Association of PDGFRA polymorphisms with the risk of corneal astigmatism in a Japanese population. Sci Rep 13, 16075 (2023). https://doi.org/10.1038/s41598-023-43333-1
Fukasaku, H., Meguro, A., Takeuchi, M. et al. Association of PDGFRA polymorphisms with the risk of corneal astigmatism in a Japanese population. Sci Rep 13, 16075 (2023). https://doi.org/10.1038/s41598-023-43333-1
Francesca Bernini, Chiara Punturiero, Mario Vevey, Veruska Blanchet, Raffaella Milanesi, Andrea Delledonne, Alessandro Bagnato & Maria Giuseppina Strillacci (2023) Assessing major genes allele frequencies and the genetic diversity of the native Aosta cattle female population, Italian Journal of Animal Science, 22:1, 1008-1022, DOI: 10.1080/1828051X.2023.2259221
Filippo Cendron, Martino Cassandro, Mauro Penasa et al. Genome-wide investigation to assess copy number variants in the Italian local chicken population, 27 July 2023, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-3171120/v1
Noeliton Teixeira de Araújo Júnior, Patrícia Ianella, Tulio Teruo Yoshinaga, Arno Juliano Butzge, Alexandre Rodrigues Caetano, Population structure and genetic diversity of rainbow trout (Oncorhynchus mykiss) broodstocks from Brazil using SNP markers, Aquaculture Reports, Volume 31, 2023, 101689, ISSN 2352-5134, https://doi.org/10.1016/j.aqrep.2023.101689
"Carvalho NDAD, Santiago KM, Maia JML, et alPrevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypesJournal of Medical Genetics Published Online First: 03 August 2023. doi: 10.1136/jmg-2023-109269
Lopez-Ortiz C, Reddy UK, Zhang C, Natarajan P, Nimmakayala P, Benedito VA, Fabian M and Stommel J (2023) QTL and PACE analyses identify candidate genes for anthracnose resistance in tomato. Front. Plant Sci. 14:1200999. doi: 10.3389/fpls.2023.1200999
Carvalho NDAD, Santiago KM, Maia JML, et alPrevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypesJournal of Medical Genetics Published Online First: 03 August 2023. doi: 10.1136/jmg-2023-109269
Côrtes, L.; Basso, T.R.; Villacis, R.A.R.; Souza, J.d.S.; Jørgensen, M.M.A.; Achatz, M.I.; Rogatto, S.R. Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients. Genes 2023, 14, 1580. https://doi.org/10.3390/genes14081580
Shira, K.A.; Murdoch, B.M.; Davenport, K.M.; Becker, G.M.; Xie, S.; Colacchio, A.M.; Bass, P.D.; Colle, M.J.; Murdoch, G.K. Advanced Skeletal Ossification Is Associated with Genetic Variants in Chronologically Young Beef Heifers. Genes 2023, 14, 1629. https://doi.org/10.3390/genes14081629
Mbanjo, E. G. N., Pasion, E. A., Jones, H., Carandang, S., Misra, G., Ignacio, J. C., Kretzschmar, T., Sreenivasulu, N., & Boyd, L. A. (2023). Unravelling marker trait associations linking nutritional value with pigmentation in rice seed. The Plant Genome, 00, e20360. https://doi.org/10.1002/tpg2.20360
Finzel JA, Brown AR, Busch RC, Doran MP, Harper JM, et al. (2023) Field demonstration analyzing the implementation of individual animal electronic identification and genetic testing in western range sheep flocks. PLOS ONE 18(8): e0290281. https://doi.org/10.1371/journal.pone.0290281
Philip W. Tipton, Merve Atik, Alexandra I. Soto-Beasley, Gregory S. Day, Sanjeet S. Grewal, Kaisorn Chaichana, Olga P. Fermo, Colleen T. Ball, Michael G. Heckman, Launia J. White, Zachary S. Quicksall, Joseph S. Reddy, Vijay K. Ramanan, Prashanthi Vemuri, Benjamin D. Elder, Nilufer Ertekin-Taner, Owen Ross, Neill Graff-Radford Neurol Genet Oct 2023, 9 (5) e200086; DOI: 10.1212/NXG.0000000000200086
Tafazoli, A., Mikros, J., Khaghani, F. et al. Pharmacovariome scanning using whole pharmacogene resequencing coupled with deep computational analysis and machine learning for clinical pharmacogenomics. Hum Genomics 17, 62 (2023). https://doi.org/10.1186/s40246-023-00508-1
Mohamed FE, Ghattas MA, Almansoori TM, Tabouni M, Baydoun I, Kizhakkedath P, John A, Alblooshi H, Shaukat Q and Al-Jasmi F (2023) Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis. Front. Pediatr. 11:1183574. doi: 10.3389/fped.2023.1183574
Koga, S., Murakami, A., Soto-Beasley, A. et al. Diffuse argyrophilic grain disease with TDP-43 proteinopathy and neuronal intermediate filament inclusion disease: FTLD with mixed tau, TDP-43 and FUS pathologies. acta neuropathol commun 11, 109 (2023). https://doi.org/10.1186/s40478-023-01611-z
Sharma A, Lanktree MB, Liskowich S, Dokouhaki P, Prasad B. Basic Research Protocol: Exome Sequencing in Adults With Loin Pain Hematuria Syndrome: A Pilot Study. Canadian Journal of Kidney Health and Disease. 2023;10. doi:10.1177/20543581231183856
"Stern, J.A., Rivas, V.N., Kaplan, J.L. et al. Hypertrophic cardiomyopathy in purpose-bred cats with the A31P mutation in cardiac myosin binding protein-C. Sci Rep 13, 10319 (2023). https://doi.org/10.1038/s41598-023-36932-5
Miceikaite, I, Fagerberg, C, Brasch-Andersen, C, et al. Comprehensive prenatal diagnostics: exome versus genome sequencing. Prenat Diagn. 2023; 1- 10. https://doi.org/10.1002/pd.6402
Habacher G, Malik R, Lait PJ, et al. Feline precision medicine using whole-exome sequencing identifies a novel frameshift mutation for vitamin D-dependent rickets type 2. Journal of Feline Medicine and Surgery. 2023;25(6). doi:10.1177/1098612X231165630
da Costa, L. T., dos Anjos, L. G., Kagohara, L. T., Torrezan, G. T., De Paula, C. A. A., Baracat, E. C., Carraro, D. M., & Carvalho, K. C.. (2021). The mutational repertoire of uterine sarcomas and carcinosarcomas in a Brazilian cohort: A preliminary study. Clinics, 76, e2324. https://doi.org/10.6061/clinics/2021/e2324
Bell D, El-Naggar AK. Molecular heterogeneity in mucoepidermoid carcinoma: conceptual and practical implications. Head Neck Pathol. 2013 Mar;7(1):23-7. doi: 10.1007/s12105-013-0432-5. Epub 2013 Mar 5. PMID: 23459841; PMCID: PMC3597160.
Koga, S., Metrick, M.A., Golbe, L.I. et al. Case report of a patient with unclassified tauopathy with molecular and neuropathological features of both progressive supranuclear palsy and corticobasal degeneration. acta neuropathol commun 11, 88 (2023). https://doi.org/10.1186/s40478-023-01584-z
Lin S-T, Lai H-C, Yeh C. Single-tube two-pronged approach using both cell-free DNA and RNA for multimodal biomarker tests at the time of biopsy. Precision Medical Sciences. 2023;1‐9. doi:10.1002/prm2.12115
Maria Barington, Morten Dunø, Ulf Birkedal, John Vissing, Alfred Peter Born, Thomas Krag, Thomas van Overeem Hansen, Elsebet Østergaard, Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy, Neuromuscular Disorders, 2023, ISSN 0960-8966, https://doi.org/10.1016/j.nmd.2023.05.007
Møller, N.B., Boonen, D.S., Feldner, E.S. et al. Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes. Sci Rep 13, 8536 (2023). https://doi.org/10.1038/s41598-023-35755-8
Mansoori, G.A.; Mahmeed, W.A.; Wani, S.; Salih, B.T.; Ansari, T.E.; Farook, F.; Farooq, Z.; Khair, H.; Zaręba, K.; Dhahouri, N.A.; Raj, A.; Foo, R.S.; Ali, B.R.; Jasmi, F.A.; Akawi, N. Introducing and Implementing Genetic Assessment in Cardio-Obstetrics Clinical Practice: Clinical and Genetic Workup of Patients with Cardiomyopathy. Int. J. Mol. Sci. 2023, 24, 9119. https://doi.org/10.3390/ijms24119119
von Hardenberg S, Wallaschek H, Du C, Schmidt G and Auber B (2023) A holistic approach to maximise diagnostic output in trio exome sequencing. Front. Pediatr. 11:1183891. doi: 10.3389/fped.2023.1183891
Djokic, M.; Drzaic, I.; Shihabi, M.; Markovic, B.; Cubric-Curik, V. Genomic Diversity Analyses of Some Indigenous Montenegrin Sheep Populations. Diversity 2023, 15, 640. https://doi.org/10.3390/d15050640
Zamorano-Algandar, R.; Medrano, J.F.; Thomas, M.G.; Enns, R.M.; Speidel, S.E.; Sánchez-Castro, M.A.; Luna-Nevárez, G.; Leyva-Corona, J.C.; Luna-Nevárez, P. Genetic Markers Associated with Milk Production and Thermotolerance in Holstein Dairy Cows Managed in a Heat-Stressed Environment. Biology 2023, 12, 679. https://doi.org/10.3390/biology12050679
Duggirala, N., Ngo, K.J., Pagnoni, S.M. et al. Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report. J Med Case Reports 17, 168 (2023). https://doi.org/10.1186/s13256-023-03897-y
Duggirala, N., Ngo, K.J., Pagnoni, S.M. et al. Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report. J Med Case Reports 17, 168 (2023). https://doi.org/10.1186/s13256-023-03897-y
Thomas R, Wiley CA, Droste EL, Robertson J, Inman BA, et al. (2023) Whole exome sequencing analysis of canine urothelial carcinomas without BRAF V595E mutation: Short in-frame deletions in BRAF and MAP2K1 suggest alternative mechanisms for MAPK pathway disruption. PLOS Genetics 19(4): e1010575. https://doi.org/10.1371/journal.pgen.1010575
Pepe F, Guerini-Rocco E, Fassan M, et alIn-house homologous recombination deficiency testing in ovarian cancer: a multi-institutional Italian pilot studyJournal of Clinical Pathology Published Online First: 18 April 2023. doi: 10.1136/jcp-2023-208852
Jayawardana, J.M.D.R.; Lopez-Villalobos, N.; McNaughton, L.R.; Hickson, R.E. Genomic Regions Associated with Milk Composition and Fertility Traits in Spring-Calved Dairy Cows in New Zealand. Genes 2023, 14, 860. https://doi.org/10.3390/genes14040860
De Filippi, P.; Errichiello, E.; Toscano, A.; Mongini, T.; Moggio, M.; Ravaglia, S.; Filosto, M.; Servidei, S.; Musumeci, O.; Giannini, F.; Piperno, A.; Siciliano, G.; Ricci, G.; Di Muzio, A.; Rigoldi, M.; Tonin, P.; Croce, M.G.; Pegoraro, E.; Politano, L.; Maggi, L.; Telese, R.; Lerario, A.; Sancricca, C.; Vercelli, L.; Semplicini, C.; Pasanisi, B.; Bembi, B.; Dardis, A.; Palmieri, I.; Cereda, C.; Valente, E.M.; Danesino, C. Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD). Curr. Issues Mol. Biol. 2023, 45, 2847-2860. https://doi.org/10.3390/cimb45040186
Hans Eiberg, Lars Hansen. Linkage and next generation sequencing (NGS) data in six large Danish families with dyslexia, 24 March 2023, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-2711629/v1
Jayawardana, J.M.D.R.; Lopez-Villalobos, N.; McNaughton, L.R.; Hickson, R.E. Genomic Regions Associated with Milk Composition and Fertility Traits in Spring-Calved Dairy Cows in New Zealand. Genes 2023, 14, 860. https://doi.org/10.3390/genes14040860
De Filippi, P.; Errichiello, E.; Toscano, A.; Mongini, T.; Moggio, M.; Ravaglia, S.; Filosto, M.; Servidei, S.; Musumeci, O.; Giannini, F.; Piperno, A.; Siciliano, G.; Ricci, G.; Di Muzio, A.; Rigoldi, M.; Tonin, P.; Croce, M.G.; Pegoraro, E.; Politano, L.; Maggi, L.; Telese, R.; Lerario, A.; Sancricca, C.; Vercelli, L.; Semplicini, C.; Pasanisi, B.; Bembi, B.; Dardis, A.; Palmieri, I.; Cereda, C.; Valente, E.M.; Danesino, C. Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD). Curr. Issues Mol. Biol. 2023, 45, 2847-2860. https://doi.org/10.3390/cimb45040186
Hans Eiberg, Lars Hansen. Linkage and next generation sequencing (NGS) data in six large Danish families with dyslexia, 24 March 2023, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-2711629/v1
Aguilera, C.; Padró-Miquel, A.; Esteve-Garcia, A.; Cerdà, P.; Torres-Iglesias, R.; Llecha, N.; Riera-Mestre, A. Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience. Genes 2023, 14, 772. https://doi.org/10.3390/genes14030772
Andersen, M.K.G.; Bertelsen, M.; Grønskov, K.; Kohl, S.; Kessel, L. Genetic and Clinical Characterization of Danish Achromatopsia Patients. Genes 2023, 14, 690. https://doi.org/10.3390/genes14030690
H.M. Golder, J. Thomson, J. Rehberger, A.H. Smith, E. Block, I.J. Lean, Associations among the genome, rumen metabolome, ruminal bacteria, and milk production in early-lactation Holsteins, Journal of Dairy Science, 2023, ISSN 0022-0302, https://doi.org/10.3168/jds.2022-22573
Manzanero, B.R., Kulkarni, K.P., Vorsa, N. et al. Genomic and evolutionary relationships among wild and cultivated blueberry species. BMC Plant Biol 23, 126 (2023). https://doi.org/10.1186/s12870-023-04124-y
Grauslund JH, Holmström MO, Martinenaite E, Lisle TL, Glöckner HJ, El Fassi D, Klausen U, Mortensen REJ, Jørgensen N, Kjær L, Skov V, Svane IM, Hasselbalch HC and Andersen MH (2023) An arginase1- and PD-L1-derived peptide-based vaccine for myeloproliferative neoplasms: A first-in-man clinical trial. Front. Immunol. 14:1117466. doi: 10.3389/fimmu.2023.1117466
Bozsik, A., Butz, H., Grolmusz, V.K. et al. Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization. Eur J Hum Genet (2023). https://doi.org/10.1038/s41431-023-01322-y
Angel Aledo-Serrano, Adrián Valls-Carbó, Christina D. Fenger et al. D-galactose supplementation for the treatment of mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): a trial of precision medicine after epilepsy surgery, 22 February 2023, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-2610838/v1
Tamaoka, S, Saito, K, Yoshida, T, Nakabayashi, K, Tatsumi, K, Kawamura, T, et al. Exome-based genome-wide screening of rare variants associated with the risk of polycystic ovary syndrome. Reprod Med Biol. 2023; 22:e12504. https://doi.org/10.1002/rmb2.12504
Christopher M Seabury, Johanna L Smith, Miranda L Wilson, Eric Bhattarai, Jose E P Santos, Ricardo C Chebel, Klibs N Galvão, Gustavo M Schuenemann, Rodrigo C Bicalho, Rob O Gilbert, Sandra L Rodriguez-Zas, Guilherme Rosa, William W Thatcher, Pablo J Pinedo, Genome-Wide Association and Genomic Prediction for a Reproductive Index Summarizing Fertility Outcomes in U.S. Holsteins, G3 Genes|Genomes|Genetics, 2023;, jkad043, https://doi.org/10.1093/g3journal/jkad043
Chokvithaya, S., Caengprasath, N., Buasong, A. et al. Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants. Sci Rep 13, 3328 (2023). https://doi.org/10.1038/s41598-023-29924-y
H R Wijesena, D J Nonneman, W M Snelling, G A Rohrer, B N Keel, C A Lents, gBLUP-GWAS identifies candidate genes, signaling pathways, and putative functional polymorphisms for age at puberty in gilts, Journal of Animal Science, 2023;, skad063, https://doi.org/10.1093/jas/skad063
Grauslund JH, Holmström MO, Martinenaite E, Lisle TL, Glöckner HJ, El Fassi D, Klausen U, Mortensen REJ, Jørgensen N, Kjær L, Skov V, Svane IM, Hasselbalch HC and Andersen MH (2023) An arginase1- and PD-L1-derived peptide-based vaccine for myeloproliferative neoplasms: A first-in-man clinical trial. Front. Immunol. 14:1117466. doi: 10.3389/fimmu.2023.1117466
Bozsik, A., Butz, H., Grolmusz, V.K. et al. Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization. Eur J Hum Genet (2023). https://doi.org/10.1038/s41431-023-01322-y
Angel Aledo-Serrano, Adrián Valls-Carbó, Christina D. Fenger et al. D-galactose supplementation for the treatment of mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): a trial of precision medicine after epilepsy surgery, 22 February 2023, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-2610838/v1
Tamaoka, S, Saito, K, Yoshida, T, Nakabayashi, K, Tatsumi, K, Kawamura, T, et al. Exome-based genome-wide screening of rare variants associated with the risk of polycystic ovary syndrome. Reprod Med Biol. 2023; 22:e12504. https://doi.org/10.1002/rmb2.12504
Christopher M Seabury, Johanna L Smith, Miranda L Wilson, Eric Bhattarai, Jose E P Santos, Ricardo C Chebel, Klibs N Galvão, Gustavo M Schuenemann, Rodrigo C Bicalho, Rob O Gilbert, Sandra L Rodriguez-Zas, Guilherme Rosa, William W Thatcher, Pablo J Pinedo, Genome-Wide Association and Genomic Prediction for a Reproductive Index Summarizing Fertility Outcomes in U.S. Holsteins, G3 Genes|Genomes|Genetics, 2023;, jkad043, https://doi.org/10.1093/g3journal/jkad043
Chokvithaya, S., Caengprasath, N., Buasong, A. et al. Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants. Sci Rep 13, 3328 (2023). https://doi.org/10.1038/s41598-023-29924-y
H R Wijesena, D J Nonneman, W M Snelling, G A Rohrer, B N Keel, C A Lents, gBLUP-GWAS identifies candidate genes, signaling pathways, and putative functional polymorphisms for age at puberty in gilts, Journal of Animal Science, 2023;, skad063, https://doi.org/10.1093/jas/skad063
Eiberg, H., Olsson, J. B., Bak, M., Bang-Berthelsen, C. H., Troelsen, J. T., & Hansen, L. (Accepted/In press). A family with ulcerative colitis maps to 7p21.1 and comprises a region with regulatory activity for the aryl hydrocarbon receptor gene. European Journal of Human Genetics. https://doi.org/10.1038/s41431-023-01298-9
Maria Giuseppina Strillacci, Chiara Punturiero, Raffaella Milanesi, Francesca Bernini, Tiziano Mason & Alessandro Bagnato (2023) Antibiotic treatments and somatic cell count as phenotype to map QTL for mastitis susceptibility in Holstein cattle breed, Italian Journal of Animal Science, 22:1, 190-199, DOI: 10.1080/1828051X.2023.2175498
Baker, E. K., Solivio, B., Pode-Shakked, B., Cross, L. A., Sullivan, B., Raas-Rothschild, A., Chorin, O., Barel, O., Bar-Yosef, O., Husami, A., Hopkin, R. J., Prada, C. E., Stottmann, R. W., & Weaver, K. N. (2022). PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. American Journal of Medical Genetics Part A, 188A: 3262– 3277. https://doi.org/10.1002/ajmg.a.62946
Alix, T., Chéry, C., Josse, T. et al. Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases. Hum Genomics 17, 5 (2023). https://doi.org/10.1186/s40246-023-00455-x
Li D, Lei L, Wang J, Tang B, Wang J, Dong R, Shi W, Liu G, Zhao T, Wu Y and Zhang Y (2023) Prognosis and personalized medicine prediction by integrated whole exome and transcriptome sequencing of hepatocellular carcinoma. Front. Genet. 14:1075347. doi: 10.3389/fgene.2023.1075347
Kuo C, Chung M, Chen SPseudocoloboma-like maculopathy with biallelic RDH12 missense mutationsJournal of Medical Genetics Published Online First: 23 January 2023. http://dx.doi.org/10.1136/jmg-2022-108918
Isaranuwatchai, S., Chanakul, A., Ittiwut, C. et al. Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis. Sci Rep 13, 805 (2023). https://doi.org/10.1038/s41598-022-26291-y
"Reis, L.M.; Atilla, H.; Kannu, P.; Schneider, A.; Thompson, S.; Bardakjian, T.; Semina, E.V. Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease. Genes 2023, 14, 216. https://doi.org/10.3390/genes14010216
Anand S, Pawal-Aute P, Gunale S, Agarwal M: A Rare Pathogenic Variant in the SERPINF1 Gene in Association with Early-Onset Severe Presentation of Autosomal Recessive Type of Osteogenesis Imperfecta VI: A Case Report. Case Rep Orthop Res 2022;5:108-114. doi: 10.1159/000527988
Hay, E.H.; Roberts, A. Genomic Analysis of Heterosis in an Angus × Hereford Cattle Population. Animals 2023, 13, 191. https://doi.org/10.3390/ani13020191
Sara Markholt, Lotte Andreasen, Jesper Bjerre, Pernille Axél Gregersen, Brian Nauheimer Andersen, Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2, European Journal of Medical Genetics, Volume 66, Issue 2, 2023, 104695, ISSN 1769-7212, https://doi.org/10.1016/j.ejmg.2023.104695
Stegemiller MR, Redden RR, Notter DR, Taylor T, Taylor JB, Cockett NE, Heaton MP, Kalbfleisch TS and Murdoch BM (2023) Using whole genome sequence to compare variant callers and breed differences of US sheep. Front. Genet. 13:1060882. doi: 10.3389/fgene.2022.1060882
Dzomba EF, Van Der Nest MA, Mthembu JNT, Soma P, Snyman MA, Chimonyo M and Muchadeyi FC (2023) Selection signature analysis and genome-wide divergence of South African Merino breeds from their founders. Front. Genet. 13:932272. doi: 10.3389/fgene.2022.932272

2022 Publications

Lin, Y.-F.; Chou, W.-H.; Liu, T.-H.; Fang, C.-P.; Kuo, H.-W.; Kuo, P.-H.; Tsai, S.-J.; Wang, S.-C.; Chung, R.-H.; Tsou, H.-H.; Chen, A.C.H.; Liu, Y.-L. Splice-Site Variants in the Gene Encoding GABA-A Receptor Delta Subunit Are Associated with Amphetamine Use in Patients under Methadone Maintenance Treatment. Int. J. Mol. Sci. 2023, 24, 721. https://doi.org/10.3390/ijms24010721
Christoph Heinrich Lindemann, Andrea Wenzel, Florian Erger, Lea Middelmann, Julika Borde, Eric Hahnen, Denise Krauß, Simon Oehm, Sita Arjune, Polina Todorova, Kathrin Burgmaier, Max Christoph Liebau, Franziska Grundmann, Bodo B. Beck, Roman-Ulrich Müller, A low-cost sequencing platform for rapid genotyping in ADPKD and its impact on clinical care, Kidney International Reports, 2022, ISSN 2468-0249, https://doi.org/10.1016/j.ekir.2022.12.025
Hong, E.H., Yeom, H., Yu, H.S. et al. Genome-wide association study of the response of patients with diabetic macular edema to intravitreal Anti-VEGF injection. Sci Rep 12, 22527 (2022). https://doi.org/10.1038/s41598-022-26048-7
Rodrigues, C.S.; de Faria, D.A.; Lacerda, T.S.; Paiva, S.R.; Caetano, A.R.; Blackburn, H.; McManus, C. Lentivirus Susceptibility in Brazilian and US Sheep with TMEM154 Mutations. Genes 2023, 14, 70. https://doi.org/10.3390/genes14010070
Halfmeyer, I.; Bartolomaeus, T.; Popp, B.; Radtke, M.; Helms, T.; Hentschel, J.; Popp, D.; Jamra, R.A. Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders. Genes 2023, 14, 30. https://doi.org/10.3390/genes14010030
Leighton, D.J., Ansari, M., Newton, J. et al. Genotype–phenotype characterisation of long survivors with motor neuron disease in Scotland. J Neurol (2022). https://doi.org/10.1007/s00415-022-11505-0
Krabek R, Smed V, M, Oestergaard E, Sundberg K: Variant in ACTG2 causing megacystis microcolon hypoperistalsis syndrome and severe familial postpartum bleeding. Fetal Diagn Ther 2022. doi: 10.1159/000528625
Larson, JK, Hunter-Schlichting, DN, Crowgey, EL, Mills, LJ, Druley, TE, Marcotte, EL. KMT2A-D pathogenicity, prevalence, and variation according to a population database. Cancer Med. 2022; 00: 1- 12. doi:10.1002/cam4.5443
Reis, L.M., Chassaing, N., Bardakjian, T. et al. ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes. Eur J Hum Genet (2022). https://doi.org/10.1038/s41431-022-01246-z
Dembic, M., van Brakel Andersen, L., Larsen, M.J. et al. Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip. Mol Genet Genomics (2022). https://doi.org/10.1007/s00438-022-01980-5
Maier-Wohlfart, S.; Aicher, C.; Willershausen, I.; Peschel, N.; Meißner, U.; Gölz, L.; Schneider, H. Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias. Genes 2022, 13, 2119. https://doi.org/10.3390/genes13112119
Sanna á Borg, Christian S. Bork, Michael René Skjelbo Nielsen, Jan Jóanesarson, Tomas Zaremba, Ihab Bishara Yousef Lolas, Søren Lundbye-Christensen, Peter Søgaard, Erik Berg Schmidt, Albert Marni Joensen, Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia, Atherosclerosis Plus, 2022, ISSN 2667-0895, https://doi.org/10.1016/j.athplu.2022.10.002
Esposito, S., Taranto, F., Vitale, P. et al. Unlocking the molecular basis of wheat straw composition and morphological traits through multi-locus GWAS. BMC Plant Biol 22, 519 (2022). https://doi.org/10.1186/s12870-022-03900-6
Baek, I.K., Cheong, H.S., Namgoong, S. et al. Two independent variants of epidermal growth factor receptor associated with risk of glioma in a Korean population. Sci Rep 12, 19014 (2022). https://doi.org/10.1038/s41598-022-23217-6
Sanna á Borg, Christian S. Bork, Michael René Skjelbo Nielsen, Jan Jóanesarson, Tomas Zaremba, Ihab Bishara Yousef Lolas, Søren Lundbye-Christensen, Peter Søgaard, Erik Berg Schmidt, Albert Marni Joensen, Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia, Atherosclerosis Plus, 2022, ISSN 2667-0895, https://doi.org/10.1016/j.athplu.2022.10.002
Acosta, M.T., Swanson, J., Stehli, A., Molina, B.S.G., , Martinez, A.F., Arcos-Burgos, M. and Muenke, M. (2016), ADGRL3 (LPHN3) variants are associated with a refined phenotype of ADHD in the MTA study. Mol Genet Genomic Med, 4: 540-547. https://doi.org/10.1002/mgg3.230
Olkinuora AP, Mayordomo AC, Kauppinen AK, Cerliani MB, Coraglio M, Collia ÁK, Gutiérrez A, Alvarez K, Cassana A, Lopéz-Köstner F, Jauk F, García-Rivello H, Ristimäki A, Koskenvuo L, Lepistö A, Nieminen TT, Vaccaro CA, Pavicic WH and Peltomäki P (2022) Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents. Front. Oncol. 12:870863. https://doi.org/10.3389/fonc.2022.870863
Rashid, Z., Babu, V., Sharma, S.S. et al. Identification and validation of a key genomic region on chromosome 6 for resistance to Fusarium stalk rot in tropical maize. Theor Appl Genet (2022). https://doi.org/10.1007/s00122-022-04239-0
Nanna Bæk Møller, Desirée Sofie Boonen, Elisabeth Simone Feldner et al. Estimating the likelihood of carrying pathogenic variants in the breast and ovarian cancer susceptibility genes: a validation of the BOADICEA model, 18 October 2022, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-2158118/v1
Milanowski, L.M.; Hou, X.; Bredenberg, J.M.; Fiesel, F.C.; Cocker, L.T.; Soto-Beasley, A.I.; Walton, R.L.; Strongosky, A.J.; Faroqi, A.H.; Barcikowska, M.; et al. Cathepsin B p.Gly284Val Variant in Parkinson’s Disease Pathogenesis. Int. J. Mol. Sci. 2022, 23, 7086. https://doi.org/ 10.3390/ijms23137086
Abderrahim Oussalah, David-Alexandre Trégouët, Jean-Louis Guéant et al. The Smoothing Method for DNA Methylome Analysis Identifies Highly Accurate Epigenomic Signatures in Epigenome-Wide Association Studies, 12 October 2022, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-2097550/v1
Duangnate Rojanaporn, Sermsiri Chitphuk, Nareenart Iemwimangsa, Takol Chareonsirisuthigul, Duangporn Saengwimol, Rangsima Aroonroch, Usanarat Anurathathapan, Suradej Hongeng, Rossukon Kaewkhaw; Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality. Trans. Vis. Sci. Tech. 2022;11(9):30. doi: https://doi.org/10.1167/tvst.11.9.30
Iso-Touru, T., Uimari, P., Elo, K., Sevon-Aimonen, M.-L., & Sironen, A. (2022). Identification of copy number variations and candidate genes for reproduction traits in Finnish pig populations. Agricultural and Food Science, 31(3), 149–159. https://doi.org/10.23986/afsci.116081
Olasege, B.S., Porto-Neto, L.R., Tahir, M.S. et al. Correlation scan: identifying genomic regions that affect genetic correlations applied to fertility traits. BMC Genomics 23, 684 (2022). https://doi.org/10.1186/s12864-022-08898-7
Trachoo O, Yingchoncharoen T, Ngernsritrakul T, Iemwimangsa N, Panthan B, Klumsathian S, et al. (2022) Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service. PLoS ONE 17(9): e0267770. https://doi.org/10.1371/journal.pone.0267770
Schamschula, E.; Kinzel, M.; Wernstedt, A.; Oberhuber, K.; Gottschling, H.; Schnaiter, S.; Friedrichs, N.; Merkelbach-Bruse, S.; Zschocke, J.; Gallon, R.; et al. Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis. Biomolecules 2022, 12, 1350. https://doi.org/10.3390/biom12101350
Jaafar MA, Heins BJ, Dechow C and Huson HJ (2022) The impact of using different ancestral reference populations in assessing crossbred population admixture and influence on performance. Front. Genet. 13:910998. doi: 10.3389/fgene.2022.910998
Cortes-Hernández JG, Ruiz-López FJ, Vásquez-Peláez CG, García-Ruiz A (2022) Runs of homocigosity and its association with productive traits in Mexican Holstein cattle. PLOS ONE 17(9): e0274743. https://doi.org/10.1371/journal.pone.0274743
Tung, M.L.; Chandra, B.; Kotlarek, J.; Melo, M.; Phillippi, E.; Justice, C.M.; Musolf, A.; Boyadijev, S.A.; Romitti, P.A.; Darbro, B.; et al. TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis. Genes 2022, 13, 1649. https://doi.org/10.3390/genes13091649
Sara Ferreira Pires, Juliana Sobral de Barros, Silvia Souza Costa et al. DNA methylation patterns suggest the involvement of DNMT3B and TET1 in osteosarcoma development, 31 August 2022, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-1999076/v1
Abd Elmoneim, H.M., Mohammed, R.K., Abd El-Meguid, R.F., Tawfik, H.M., Abd Elghany, M.I., Albar, H.T., Basalamah, M.A.M. and Toni, N.D.M. (2022). Identifying novel targetable chromosomal alterations in ovarian cancer: Using germline copy number variation association analysis. The Scientific Journal of King Faisal University: Basic and Applied Sciences, 23(2), Page Numbers. DOI: 10.37575/b/med/220015
Cruz-Utrilla, A.; Gallego-Zazo, N.; Tenorio-Castaño, J.A.; Guillén, I.; Torrent-Vernetta, A.; Moya-Bonora, A.; Labrandero, C.; Rodríguez-Monte, M.E.G.-L.; Rodríguez-Ogando, A.; Rey, M.d.M.R.V.D.; Espín, J.; Plata-Izquierdo, B.; Álvarez-Fuente, M.; Moreno-Gaudó, A.; Escribano-Subias, P.; Marín, M.J.D.C. Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry. Int. J. Mol. Sci. 2022, 23, 10433. https://doi.org/10.3390/ijms231810433
Mariana Maschietto, Sara Pires, Juliana Sobral, et al. DNA methylation patterns suggest the involvement of DNMT3B and TET1 in osteosarcoma development. Authorea. July 26, 2022. https://doi.org/10.22541/au.165883148.89448154/v1
Reis LM, Maheshwari M, Capasso J, et alAxenfeld-Rieger syndrome: more than meets the eyeJournal of Medical Genetics Published Online First: 26 July 2022. doi: 10.1136/jmg-2022-108646
Viney Gupta, Arnav Panigrahi, Bindu Somarajan I, et al. Association of TGFBI variants with Congenital and Juvenile onset open angle glaucoma. Authorea. July 18, 2022. DOI: https://doi.org/10.22541/au.165812674.48680553/v1
Drzaic I, Curik I, Lukic B, Shihabi M, Li M-H, Kantanen J, Mastrangelo S, Ciani E, Lenstra JA and Cubric-Curik V (2022) High-Density Genomic Characterization of Native Croatian Sheep Breeds. Front. Genet. 13:940736. https://doi.org/10.3389/fgene.2022.940736
"Reis, L.M.; Seese, S.; Maheshwari, M.; Basel, D.; Weik, L.; McCarrier, J.; University of Washington Center for Mendelian Genomics; Semina, E.V. Novel Genetic Diagnoses in Septo-Optic Dysplasia. Genes 2022, 13, 1165. https://doi.org/10.3390/genes13071165
Arnaud Wiedemann, Abderrahim Oussalah, Nathalie Lamireau, Maurane Théron, Melissa Julien, Jean-Philippe Mergnac, Baptiste Augay, Pauline Deniaud, Tom Alix, Marine Frayssinoux, François Feillet, Jean-Louis Guéant, Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis, Cell Reports Medicine, 2022, 100670, ISSN 2666-3791, https://doi.org/10.1016/j.xcrm.2022.100670
Young TL, Whisenhunt KN, LaMartina SM, Hewitt AW, Mackey DA, Tompson SW. Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract. Invest Ophthalmol Vis Sci. 2022 Jun 1;63(6):25. doi: 10.1167/iovs.63.6.25. PMID: 35749127; PMCID: PMC9234370. https://doi.org/10.1167/iovs.63.6.25
Napolitano, F.; Dell’Aquila, M.; Terracciano, C.; Franzese, G.; Gentile, M.T.; Piluso, G.; Santoro, C.; Colavito, D.; Patanè, A.; De Blasiis, P.; et al. Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype. Genes 2022, 13, 1130. https://doi.org/10.3390/genes13071130
Mekata, H.; Yamamoto, M. Single-Nucleotide Polymorphism on Spermatogenesis Associated 16 Gene-Coding Region Affecting Bovine Leukemia Virus Proviral Load. Vet. Sci. 2022, 9, 275. https://doi.org/10.3390/vetsci9060275
Terri L Young, Kristina Whisenhunt, Sean Martin, Stuart Tompson; PIEZO1 and PIEZO2 pathogenic variants identified in primary congenital glaucoma. Invest. Ophthalmol. Vis. Sci. 2022;63(7):1127.
Ashouri S, Khor S-S, Hitomi Y, Sawai H, Nishida N, Sugiyama M, Kawai Y, Posuwan N, Tangkijvanich P, Komolmit P, Tsuiji M, Shotelersuk V, Poovorawan Y, Mizokami M and Tokunaga K (2022) Genome-Wide Association Study for Chronic Hepatitis B Infection in the Thai Population. Front. Genet. 13:887121. doi: 10.3389/fgene.2022.887121
Kunene LM, Muchadeyi FC, Hadebe K, Mészáros G, Sölkner J, Dugmore T and Dzomba EF (2022) Genetics of Base Coat Colour Variations and Coat Colour-Patterns of the South African Nguni Cattle Investigated Using High-Density SNP Genotypes. Front. Genet. 13:832702. doi: 10.3389/fgene.2022.832702
Dilliott, A. A., Zhang, K. K., Wang, J., Abrahao, A., Binns, M. A., Black, S. E., Borrie, M., Dowlatshahi, D., Finger, E., Fischer, C. E., Frank, A., Freedman, M., Grimes, D., Hassan, A., Jog, M., Kumar, S., Lang, A. E., Mandzia, J., Masellis, M. … Hegele, R. A. (2022). Targeted copy number variant identification across the neurodegenerative disease spectrum. Molecular Genetics & Genomic Medicine, 00, e1986. https://doi.org/10.1002/mgg3.1986
Taranto, F.; Di Serio, E.; Miazzi, M.M.; Pavan, S.; Saia, S.; De Vita, P.; D’Agostino, N. Intra- and Inter-Population Genetic Diversity of “Russello” and “Timilia” Landraces from Sicily: A Proxy towards the Identification of Favorable Alleles in Durum Wheat. Agronomy 2022, 12, 1326. https://doi.org/10.3390/agronomy12061326
Cursio I, Ronzano N, Asunis M, et al. A peculiar family with recurrent self-limited epileptic syndrome and associated developmental disorders in six girls. Epilepsy Behav Rep. 2022;19:100546. Published 2022 Apr 22. doi:10.1016/j.ebr.2022.100546
Tordoff M, Smith S, Rice GI, et alPOS0164 GENETIC ANALYSIS OF WHOLE EXOME SEQUENCING IN A COHORT OF CHILDREN WITH REFRACTORY JIA REVEALS GENETIC RISK FACTORS FOR RARE JUVENILE DISEASES.Annals of the Rheumatic Diseases 2022;81:311. https://ard.bmj.com/content/81/Suppl_1/311.1
Muhammad Imran Naseer, Angham Abdulrhman Abdulkareem, Mahmood Rasool, Bader Shirah, Hussein Algahtani, Osama Y. Muthaffar, Peter Natesan Pushparaj, Clinical whole exome sequencing revealed de novo Heterozygous Stop-Gain and Missense variants in the STXBP1 gene associated with Epilepsy in Saudi Families, Saudi Journal of Biological Sciences, 2022, 103309, ISSN 1319-562X, https://doi.org/10.1016/j.sjbs.2022.103309
Erich Schaflinger, Jasmin Blatterer, Aiman Saeed Khan, Lukas Kaufmann, Lisa Auinger, Benjamin Tatrai, Sumra Wajid Abbasi, Muhammad Zeeshan Ali, Ansar Ahmad Abbasi, Ali Al Kaissi, Erwin Petek, Klaus Wagner, Muzammil Ahmad Khan, Christian Windpassinger, An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal Progeria due to possible utilization of a downstream alternative start codon, Gene, 2022, 146582, ISSN 0378-1119, https://doi.org/10.1016/j.gene.2022.146582
Bhat GR, Sethi I, Rah B, Kumar R and Afroze D (2022) Innovative in Silico Approaches for Characterization of Genes and Proteins. Front. Genet. 13:865182. doi: 10.3389/fgene.2022.865182
Raman R, Warren A, Krysinska-Kaczmarek M, Rohan M, Sharma N, Dron N, Davidson J, Moore K and Hobson K (2022) Genome-Wide Association Analyses Track Genomic Regions for Resistance to Ascochyta rabiei in Australian Chickpea Breeding Germplasm. Front. Plant Sci. 13:877266. doi: 10.3389/fpls.2022.877266
Gallego-Zazo, N.; Cruz-Utrilla, A.; del Cerro, M.J.; Ochoa Parra, N.; Blanco, J.N.; Arias, P.; Lapunzina, P.; Escribano-Subias, P.; Tenorio-Castaño, J. Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature. Genes 2022, 13, 927. https://doi.org/10.3390/genes13050927
Christopher M Seabury, Mitchell A Lockwood, Tracy A Nichols, Genotype by Environment Interactions for Chronic Wasting Disease in Farmed U.S. White-tailed Deer, G3 Genes|Genomes|Genetics, 2022;, jkac109, https://doi.org/10.1093/g3journal/jkac109
Simmer, J.P.; Zhang, H.; Moon, S.J.H.; Donnelly, L.A.-J.; Lee, Y.-L.; Seymen, F.; Koruyucu, M.; Chan, H.-C.; Lee, K.Y.; Wu, S.; Hsiang, C.-L.; Tsai, A.T.P.; Slayton, R.L.; Morrow, M.; Wang, S.-K.; Shields, E.D.; Hu, J.C.-C. The Modified Shields Classification and 12 Families with Defined DSPP Mutations. Genes 2022, 13, 858. https://doi.org/10.3390/genes13050858
Oliveira RD, Mousel MR, Gonzalez MV, Durfee CJ, Davenport KM, et al. (2022) A high-density genome-wide association with absolute blood monocyte count in domestic sheep identifies novel loci. PLOS ONE 17(5): e0266748. https://doi.org/10.1371/journal.pone.0266748
Cappello, F.; Angerilli, V.; Munari, G.; Ceccon, C.; Sabbadin, M.; Pagni, F.; Fusco, N.; Malapelle, U.; Fassan, M. FFPE-Based NGS Approaches into Clinical Practice: The Limits of Glory from a Pathologist Viewpoint. J. Pers. Med. 2022, 12, 750. https://doi.org/10.3390/jpm12050750
Zorc, M., Škorput, D., Gvozdanović, K. et al. Genetic diversity and population structure of six autochthonous pig breeds from Croatia, Serbia, and Slovenia. Genet Sel Evol 54, 30 (2022). https://doi.org/10.1186/s12711-022-00718-6
Gupta, V.; Panigrahi, A.; I Somarajan, B.; Gupta, S.; Tripathy, K.; Singh, A.; Sharma, A.; Pradhan, D.; Sharma, A. Association of a TGFBI Mutation with Congenital Glaucoma in GAPO Syndrome . Preprints 2022, 2022040310 (doi: 10.20944/preprints202204.0310.v1).
Shi Z, Lopez J, Kalliney W, Sutton B, Simpson J, et al. (2022) Development and evaluation of ActSeq: A targeted next-generation sequencing panel for clinical oncology use. PLOS ONE 17(4): e0266914. https://doi.org/10.1371/journal.pone.0266914
Justin R. Clark, Matthew Gemin, Amer Youssef, Santica M. Marcovina, Annik Prat, Nabil G. Seidah, Robert A. Hegele, Michael B. Boffa, Marlys L. Koschinsky, Sortilin enhances secretion of apolipoprotein(a) through effects on apolipoprotein B secretion and promotes uptake of lipoprotein(a), Journal of Lipid Research, 2022,100216, ISSN 0022-2275, https://doi.org/10.1016/j.jlr.2022.100216
Elliott AM, Adam S, du Souich C, Lehman A, Nelson TN, van Karnebeek C, Alderman E, Armstrong L, Aubertin G, Blood K, Boelman C, Boerkoel C, Bretherick K, Brown L, Chijiwa C, Clarke L, Couse M, Creighton S, Watts-Dickens A, Gibson WT, Gill H, Tarailo-Graovac M, Hamilton S, Heran H, Horvath G, Huang L, Hulait GK, Koehn D, Lee HK, Lewis S, Lopez E, Louie K, Niederhoffer K, Matthews A, Meagher K, Peng JJ, Patel MS, Race S, Richmond P, Rupps R, Salvarinova R, Seath K, Selby K, Steinraths M, Stockler S, Tang K, Tyson C, van Allen M, Wasserman W, Mwenifumbo J, Friedman JM, Genome-wide Sequencing and the Clinical Diagnosis of Genetic Disease: TheCAUSES Study, Human Genetics and Genomics Advances (2022), doi: https://doi.org/10.1016/ j.xhgg.2022.100108
Oussalah, A., Siblini, Y., Hergalant, S. et al. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. Clin Epigenet 14, 52 (2022). https://doi.org/10.1186/s13148-022-01271-1
Dejenie Mengistie, Zewdu Edea, Tesfaye sisay Tesema et al. Genome-Wide Signature of Positive Selection and Linkage Disequilibrium in Ethiopian Indigenous and European Beef Cattle Breeds, 15 April 2022, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-1554212/v1
Zhiwei Ma, Daniel Chauss, Joshua Disatham, Xiaodong Jiao, Lisa Ann Brennan, A. Sue Menko, Marc Kantorow, J. Fielding Hejtmancik; Patterns of Crystallin Gene Expression in Differentiation State Specific Regions of the Embryonic Chicken Lens. Invest. Ophthalmol. Vis. Sci. 2022;63(4):8. doi: https://doi.org/10.1167/iovs.63.4.8
Kochendoerfer, Nikola & Shepherd, Shadirah & Posbergh, Christian & Huson, Heather & Barbano, David & Thonney, Michael. (2022). Genetic Make-up, Milk Production, and Infrared Predicted Milk Constituents in a Commercial Dairy Sheep Flock of Variable Breed Composition. 37.
Pace NP, Mintoff D and Borg I (2022) The Genomic Architecture of Hidradenitis Suppurativa—A Systematic Review. Front. Genet. 13:861241. doi: 10.3389/fgene.2022.861241
Veronika Vaclavik, Leila Tiab, Young Joo Sun, Vinit B. Mahajan, Alexandre Moulin, Nathalie Allaman-Pillet, Francis L. Munier, Daniel F. Schorderet; New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family. Invest. Ophthalmol. Vis. Sci. 2022;63(3):23. doi: https://doi.org/10.1167/iovs.63.3.23
Patel, J.D.; Wang, M.L.; Dang, P.; Butts, C.; Lamb, M.; Chen, C.Y. Insights into the Genomic Architecture of Seed and Pod Quality Traits in the U.S. Peanut Mini-Core Diversity Panel. Plants 2022, 11, 837. https://doi.org/10.3390/plants11070837
Tan, M., Brusgaard, K., Gerdes, A-M., Larsen, M. J., Mortensen, M. B., Detlefsen, S., de Muckadell, O. B. S., & Joergensen, M. T. (2022). Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients. Annals of Human Genetics, 1–12. https://doi.org/10.1111/ahg.12464
Chatterjee S, Majumder A (March 26, 2022) Non-conventional Genetic Basis of Congenital Adrenal Hypoplasia in South Asia. Cureus 14(3): e23527. doi:10.7759/cureus.23527
Bell SM, Evans JM, Evans KM, Tsai KL, Noorai RE, et al. (2022) Congenital idiopathic megaesophagus in the German shepherd dog is a sex-differentiated trait and is associated with an intronic variable number tandem repeat in Melanin-Concentrating Hormone Receptor 2. PLOS Genetics 18(3): e1010044. https://doi.org/10.1371/journal.pgen.1010044
Stronen, A.V., Mattucci, F., Fabbri, E. et al. A reduced SNP panel to trace gene flow across southern European wolf populations and detect hybridization with other Canis taxa. Sci Rep 12, 4195 (2022). https://doi.org/10.1038/s41598-022-08132-0
Nishida, N., Sugiyama, M., Kawai, Y. et al. Genetic association of IL17 and the importance of ABO blood group antigens in saliva to COVID-19. Sci Rep 12, 3854 (2022). https://doi.org/10.1038/s41598-022-07856-3
Andrea G. Maria, Bruna Azevedo, Nikolaos Settas et al. USP13 Genetics and Expression in a Family With Thyroid Cancer, 07 March 2022, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-1402599/v1
Evans, D.R.; Qiao, Y.; Trost, B.; Calli, K.; Martell, S.; Jones, S.J.M.; Scherer, S.W.; Lewis, M.E.S. Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous POLR2A Variant. Genes 2022, 13, 470. https://doi.org/10.3390/genes13030470
Bell SM, Evans JM, Evans KM, Tsai KL, Noorai RE, Famula TR, et al. (2022) Congenital idiopathic megaesophagus in the German shepherd dog is a sex-differentiated trait and is associated with an intronic variable number tandem repeat in Melanin-Concentrating Hormone Receptor 2. PLoS Genet 18(3): e1010044. https://doi.org/10.1371/journal.pgen.1010044
Becker GM, Burke JM, Lewis RM, Miller JE, Morgan JLM, Rosen BD, Van Tassell CP, Notter DR and Murdoch BM (2022) Variants Within Genes EDIL3 and ADGRB3 are Associated With Divergent Fecal Egg Counts in Katahdin Sheep at Weaning. Front. Genet. 13:817319. doi: https://doi.org/10.3389/fgene.2022.817319
Stronen, A.V., Mattucci, F., Fabbri, E. et al. A reduced SNP panel to trace gene flow across southern European wolf populations and detect hybridization with other Canis taxa. Sci Rep 12, 4195 (2022). https://doi.org/10.1038/s41598-022-08132-0
Ki Woong Sung, Joon Seol Bae, Ji Won Lee et al. Clinical Significance of Germline Telomere Length and Associated Genetic Factors in Patients with Neuroblastoma, 03 March 2022, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-1360590/v1
Diana Carolina Sierra-Díaz, Adrien Morel, Dora Janeth Fonseca, Nora Contreras, Mariana Angulo-Aguado, Valentina Balaguera, Kevin Llinás-Caballero, Isabel Munevar, Mariana Borras, Mauricio Lema, Henry Idrobo, Daniela Trujillo, Norma Serrano, Ana Isabel Orduz, Diego Lopera, Jaime Gonzalez, Gustavo Rojas, Paula Londoño, Ray Manneh, Catalina Quintero, Paul Laissue, Rodrigo Cabrera, Carlos M Restrepo, William Mantilla; Abstract P3-07-05: Genetic profile of germline mutations in unselected women with breast cancer in a Colombian population. Cancer Res 15 February 2022; 82 (4_Supplement): P3–07–05. https://doi.org/10.1158/1538-7445.SABCS21-P3-07-05
Scandura M, Fabbri G, Caniglia R, Iacolina L, Mattucci F, Mengoni C, Pante G, Apollonio M and Mucci N (2022) Resilience to Historical Human Manipulations in the Genomic Variation of Italian Wild Boar Populations. Front. Ecol. Evol. 10:833081. doi: 10.3389/fevo.2022.833081
Naseer MI, Pushparaj PN, Abdulkareem AA and Muthaffar OY (2022) Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families. Front. Pediatr. 9:829251. doi: 10.3389/fped.2021.829251
Myers AN, Lawhon SD, Diesel AB, Bradley CW, Rodrigues Hoffmann A, et al. (2022) An ancient haplotype containing antimicrobial peptide gene variants is associated with severe fungal skin disease in Persian cats. PLOS Genetics 18(2): e1010062. https://doi.org/10.1371/journal.pgen.1010062
Claire L. Simpson, Danielle C. Kimble, Settara C. Chandrasekharappa, NISC Comparative Sequencing Program, Khalid Alqosayer, Emily Holzinger, Blake Carrington, John McElderry, Raman Sood, Ghaith Al-Souqi, Hasan Albacha-Hejazi, Joan E. Bailey Wilson medRxiv 2022.02.10.21265142; doi: https://doi.org/10.1101/2022.02.10.21265142
Human germline biallelic complete NFAT1 deficiency causes the triad of progressive joint contractures, osteochondromas, and susceptibility to B cell malignancy Mehul Sharma, Maggie P. Fu, Henry Y. Lu, Ashish A. Sharma, Bhavi P. Modi, Christina Michalski, Susan Lin, Joshua Dalmann, Areesha Salman, Kate L. Del Bel, Meriam Waqas, Jefferson Terry, Audi Setiadi, Pascal M. Lavoie, Wyeth W. Wasserman, Jill Mwenifumbo, Michael S. Kobor, Anna F. Lee, Anna Lehman, Sylvia Cheng, Anthony Cooper, Millan S. Patel, Stuart E. Turvey medRxiv 2022.01.30.22269378; doi: https://doi.org/10.1101/2022.01.30.22269378
Junran J. Peng, Navid Saleh, Thomas M. Roston, Adam Kramer, Lubomira Cemakova, G.B. John Mancini, Christopher B. Fordyce, Liam R. Brunham, The design and rationale of the Advancing Cardiac Care Unit-based Rapid Assessment and Treatment of hypErcholesterolemia (ACCURATE) study, American Heart Journal Plus: Cardiology Research and Practice, 2022, 100097, ISSN 2666-6022, https://doi.org/10.1016/j.ahjo.2022.100097
Lorraine Mhoswa, Alexander A Myburg, Bernard Slippers, Carsten Külheim, Sanushka Naidoo, Genome-Wide Association Study identifies SNP markers and putatve candidate genes for terpene traits important for Leptocybe invasa resistance in Eucalyptus grandis, G3 Genes|Genomes|Genetics, 2022;, jkac004, https://doi.org/10.1093/g3journal/jkac004
Fidalgo F, Torrezan GT, Sá BCSd, Barros BDdF, Moredo LF, et al. (2022) Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families. PLOS ONE 17(1): e0262419. https://doi.org/10.1371/journal.pone.0262419
Ncube, K.T.; Dzomba, E.F.; Hadebe, K.; Soma, P.; Frylinck, L.; Muchadeyi, F.C. Carcass Quality Profiles and Associated Genomic Regions of South African Goat Populations Investigated Using Goat SNP50K Genotypes. Animals 2022, 12, 364. https://doi.org/10.3390/ani12030364
Mattia, M.R.; Du, D.; Yu, Q.; Kahn, T.; Roose, M.; Hiraoka, Y.; Wang, Y.; Munoz, P.; Gmitter, F.G., Jr. Genome-Wide Association Study of Healthful Flavonoids among Diverse Mandarin Accessions. Plants 2022, 11, 317. https://doi.org/10.3390/plants11030317
Douka K, Agapiou M, Birds I and Aspden JL (2022) Optimization of Ribosome Footprinting Conditions for Ribo-Seq in Human and Drosophila melanogaster Tissue Culture Cells. Front. Mol. Biosci. 8:791455. doi: 10.3389/fmolb.2021.791455
Woike, D., Wang, E., Tibbe, D. et al. Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders. Sci Rep 12, 902 (2022). https://doi.org/10.1038/s41598-021-04723-5
Wang F, Luo D, Chen J, Pan C, Wang Z, Fu H, Xu J, Yang M, Mo S, Zhuang L, Ye L, Wang W. Genome-Wide Association Analysis to Search for New Loci Associated with Lifelong Premature Ejaculation Risk in Chinese Male Han Population. World J Mens Health. 2022;40:e4. https://doi.org/10.5534/wjmh.210084
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Faergeman SL, Becher N, Andreasen L, Christiansen M, Frost L, Vogel I. A novel nonsense variant in MED12 associated with malformations in a female fetus. Clin Case Rep. 2021;9:e05124. doi:10.1002/ccr3.5124

2021 Publications

Tabolacci, E.; Pomponi, M.G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, V.; Pucci, C.; Musto, E.; Pane, M.; Mercuri, E.M.; et al. Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis. Genes 2021, 12, 1909. https://doi.org/10.3390/genes12121909
Song L, Cao B, Zhang Y, Meinhardt LW, Zhang D. Mining Single Nucleotide Polymorphism (SNP) Markers for Accurate Genotype Identification and Diversity Analysis of Chinese Jujube (Ziziphus jujuba Mill.) Germplasm. Agronomy. 2021; 11(11):2303. https://doi.org/10.3390/agronomy11112303
Miyake W, Minemoto M, Hayama H, Yamamoto M, Okazaki T, Takano K, Mori K, Okazaki A, Arakawa R, Hara H, Takeuchi F, Hiroi Y, Kato N. Case Report of Left Ventricular Noncompaction Cardiomyopathy Characterized by Undulating Phenotypes in Adult Patients. Int Heart J. 2021;62(6):1420-1429. doi: 10.1536/ihj.21-283. PMID: 34853230
Morgan R Stegemiller, Melinda J Ellison, John B Hall, James E Sprinkle, Brenda M Murdoch, Identifying genetic variants affecting cattle grazing behavior experiencing mild heat load, Translational Animal Science, Volume 5, Issue Supplement_S1, December 2021, Pages S61–S66, https://doi.org/10.1093/tas/txab151
Pepe, F.; Pisapia, P.; Russo, G.; Nacchio, M.; Pallante, P.; Vigliar, E.; De Angelis, C.; Insabato, L.; Bellevicine, C.; De Placido, S.; Troncone, G.; Malapelle, U. BRCA1/2 NGS Somatic Testing in Clinical Practice: A Short Report. Genes 2021, 12, 1917. https://doi.org/10.3390/genes12121917
Siblini, Y., Chéry, C., Rouyer, P. et al. Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency. Clin Epigenet 13, 212 (2021). https://doi.org/10.1186/s13148-021-01199-y
Pepe, F.; Pisapia, P.; Russo, G.; Nacchio, M.; Vigliar, E.; Giuliano, M.; Malapelle, U.; Troncone, G.; Bellevicine, C. Fine-Needle Aspiration Is Suitable for Breast Cancer BRCA Molecular Assessment: A Case Report. J. Mol. Pathol. 2021, 2, 319-324. https://doi.org/10.3390/jmp2040028
Vibe Skov, Anders Lindholm Sørensen, Trine Alma Knudsen, Mads Emil Bjørn, Christina Ellervik, Morten Kranker Larsen, Christina Schjellerup Schjellerup Eickhardt-Dalbøge, Sarah Friis Christensen, Mads Thomassen, Torben A Kruse, Hans C. Hasselbalch; The Impact of Somatic Mutations upon the Response to Combination Therapy with Ruxolitinib and Interferon in MPN Patients. Blood 2021; 138 (Supplement 1): 3589. doi: https://doi.org/10.1182/blood-2021-152154
Sirokha, D.; Gorodna, O.; Vitrenko, Y.; Zelinska, N.; Ploski, R.; Nef, S.; Jaruzelska, J.; Kusz-Zamelczyk, K.; Livshits, L. A Novel WT1 Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9. Biology 2021, 10, 1248. https://doi.org/10.3390/biology10121248
Sarah R. Senum, Ying (Sabrina) M. Li, Katherine A. Benson, Giancarlo Joli, Eric Olinger, Sravanthi Lavu, Charles D. Madsen, Adriana V. Gregory, Ruxandra Neatu, Timothy L. Kline, Marie-Pierre Audrézet, Patricia Outeda, Cherie B. Nau, Esther Meijer, Hamad Ali, Theodore I. Steinman, Michal Mrug, Paul J. Phelan, Terry J. Watnick, Dorien J.M. Peters, Albert C.M. Ong, Peter J. Conlon, Ronald D. Perrone, Emilie Cornec-Le Gall, Marie C. Hogan, Vicente E. Torres, John A. Sayer, Peter C. Harris, Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype, The American Journal of Human Genetics, 2021, ISSN 0002-9297, https://doi.org/10.1016/j.ajhg.2021.11.016
Southey, M.C., Dowty, J.G., Riaz, M. et al. Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing. npj Breast Cancer 7, 153 (2021). https://doi.org/10.1038/s41523-021-00360-3
Mkize, N.; Maiwashe, A.; Dzama, K.; Dube, B.; Mapholi, N. Suitability of GWAS as a Tool to Discover SNPs Associated with Tick Resistance in Cattle: A Review. Pathogens 2021, 10, 1604. https://doi.org/10.3390/pathogens10121604
Verheyen S, Blatterer J, Speicher MR, et alNovel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiencyJournal of Medical Genetics Published Online First: 16 December 2021. doi: 10.1136/jmedgenet-2021-108061
Johannes Duell, Aleš Obr, Marinela Augustin, Jan Endell, Hao Liu, Sabine Geiger, Ian M. Silverman, Sumeet Ambarkhane & Andreas Rosenwald (2021) CD19 expression is maintained in DLBCL patients after treatment with tafasitamab plus lenalidomide in the L-MIND study, Leukemia & Lymphoma, DOI: 10.1080/10428194.2021.1986219 .
Maja Dembic, Lars van Brakel Andersen, Martin Jakob Larsen et al. PPP6R2 is a Novel Candidate Gene for Developmental Dysplasia of the Hip as Revealed by Whole Exome Sequencing of 29 Families of Danish Descent, 08 November 2021, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-1038868/v1
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Kjaer, I., Rozencweig, G., Foultier, E., Petersen, M. L., Tommerup, N., Bak, M., & Kvetny, J. (2021). Two Cases Diagnosed with Idiopathic Root Resorption and Low Serum Vitamin D Raise New Questions on Aetiology. International Journal of Research and Reports in Dentistry, 4(2), 13-23. Retrieved from https://www.journalijrrd.com/index.php/IJRRD/article/view/30141
Yamamoto, J., Yamamoto, M., Takano, K. et al. Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals. Hum Genome Var 8, 13 (2021). https://doi.org/10.1038/s41439-021-00145-x
Rodney, A.R., Buckley, R.M., Fulton, R.S. et al. A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11, 7159 (2021). https://doi.org/10.1038/s41598-021-86200-7
Scarpino, S., & Malapelle, U. (2021). Liquid Biopsy: A New Diagnostic Strategy and Not Only for Lung Cancer? , Histopathology And Liquid Biopsy [Working Title]. https://doi.org/10.5772/intechopen.94838
Felicio, P., Grasel, R., Campacci, N., Paula, A., Galvão, H., & Torrezan, G. et al. (2020). Whole‐exome sequencing of non‐ BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer. Human Mutation. https://doi.org/10.1002/humu.24158
Neal, M., Birkeland, A., Bhangale, A., Zhai, J., Kulkarni, A., & Foltin, S. et al. (2020). Genetic Analysis of Sinonasal Undifferentiated Carcinoma Discovers Recurrent SWI/SNF Alterations and a novel PGAP3-SRPK1 Fusion Gene. https://doi.org/10.21203/rs.3.rs-115402/v1
Dzomba, E.F., Chimonyo, M., Pierneef, R. et al. Runs of homozygosity analysis of South African sheep breeds from various production systems investigated using OvineSNP50k data. BMC Genomics 22, 7 (2021). https://doi.org/10.1186/s12864-020-07314-2
Pavan, S., Delvento, C., Mazzeo, R. et al. Almond diversity and homozygosity define structure, kinship, inbreeding, and linkage disequilibrium in cultivated germplasm, and reveal genomic associations with nut and seed weight. Hortic Res 8, 15 (2021). https://doi.org/10.1038/s41438-020-00447-1
da Costa, L., dos Anjos, L., Kagohara, L., Torrezan, G., De Paula, C., & Baracat, E. et al. (2021). The mutational repertoire of uterine sarcomas and carcinosarcomas in a Brazilian cohort: A preliminary study. Clinics, 76. https://doi.org/10.6061/clinics/2021/e2324
Kringel, D.; Malkusch, S.; Kalso, E.; Lötsch, J. Computational Functional Genomics-Based AmpliSeq™ Panel for Next Generation Sequencing of Key Genes of Pain. Int. J. Mol. Sci. 2021, 22, 878. https://doi.org/10.3390/ijms220208
Vinayan, M., Seetharam, K., Babu, R., Zaidi, P., Blummel, M., & Nair, S. (2021). Genome wide association study and genomic prediction for stover quality traits in tropical maize (Zea mays L.). Scientific Reports, 11(1). https://doi.org/10.1038/s41598-020-80118-2
Liao, Y-H.; Er, L-K.; Wu, S.; Ko, Y-L.; Teng, M-S. Functional Haplotype of LIPC Induces Triglyceride-Mediated Suppression of HDL-C Levels According to Genome-Wide Association Studies. Genes 2021, 12, 148. https://doi.org/10.3390/genes12020148"
van der Nest, M., Hlongwane, N., Hadebe, K., Chan, W., van der Merwe, N., & De Vos, L. et al. (2021). Breed Ancestry, Divergence, Admixture, and Selection Patterns of the Simbra Crossbreed. Frontiers in Genetics, 11. https://doi.org/10.3389/fgene.2020.608650
Duhan, V., Khairnar, V., Kitanovski, S., Hamdan, T., Klein, A., & Lang, J. et al. (2021). Integrin Alpha E (CD103) Limits Virus-Induced IFN-I Production in Conventional Dendritic Cells. Frontiers in Immunology, 11. https://doi.org/10.3389/fimmu.2020.607889
Akpertey, A., Padi, F., Meinhardt, L., & Zhang, D. (2021). Effectiveness of Single Nucleotide Polymorphism Markers in Genotyping Germplasm Collections of Coffea canephora Using KASP Assay. Frontiers in Plant Science, 11. https://doi.org/10.3389/fpls.2020.612593
Wernick, A.I., Walton, R.L., Soto-Beasley, A.I. et al. Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy. Clin Auton Res (2021). https://doi.org/10.1007/s10286-020-00759-1
Runcharoen, C., Fukunaga, K., Sensorn, I. et al. Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm). Hum Genome Var 8, 7 (2021). https://doi.org/10.1038/s41439-021-00135-z
Strillacci, M.G.; Marelli, S.P.; Milanesi, R.; Zaniboni, L.; Punturiero, C.; Cerolini, S. Copy Number Variants in Four Italian Turkey Breeds. Animals 2021, 11, 391. https://doi.org/10.3390/ani11020391
Handlos Grauslund, J., Holmström, M., Jørgensen, N., Klausen, U., Weis-Banke, S., & El Fassi, D. et al. (2021). Therapeutic Cancer Vaccination With a Peptide Derived From the Calreticulin Exon 9 Mutations Induces Strong Cellular Immune Responses in Patients With CALR-Mutant Chronic Myeloproliferative Neoplasms. Frontiers In Oncology, 11. https://doi.org/10.3389/fonc.2021.637420
Julien Levy, Rosa-Maria Rodriguez-Guéant, Abderrahim Oussalah, Elise Jeannesson, Denis Wahl, Stéphane Ziuly, Jean-Louis Guéant, Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients, The American Journal of Clinical Nutrition, 2021;, nqaa432, https://doi.org/10.1093/ajcn/nqaa432
Ariel, O., Brouard, JS., Marete, A. et al. Genome-wide association analysis identified both RNA-seq and DNA variants associated to paratuberculosis in Canadian Holstein cattle ‘in vitro’ experimentally infected macrophages. BMC Genomics 22, 162 (2021). https://doi.org/10.1186/s12864-021-07487-4
Pickford, A., Michel-Todó, L., Dupuy, F., Mayor, A., Alonso, P., Lavazec, C., & Cortés, A. (2021). Expression patterns of Plasmodium falciparum clonally variant genes at the onset of a blood infection in non-immune humans. https://doi.org/10.1101/2021.02.23.432621
Carvalho, L., D’Angelo, C., Mustacchi, Z., da Silva, I., Krepischi, A., Koiffmann, C., & Rosenberg, C. (2021). A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review. Obesity Research & Clinical Practice, 15(2), 124-132. https://doi.org/10.1016/j.orcp.2021.01.001
Janeš M, Zorc M, Ferenčaković M, Curik I, Dovč P, Cubric-Curik V. Genomic Characterization of the Three Balkan Livestock Guardian Dogs. Sustainability. 2021; 13(4):2289. https://doi.org/10.3390/su13042289
Fonseca, D., Morel, A., Llinas-Caballero, K., Bolivar-Salazar, D., & Laissue, P. (2021). Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype. Pharmacogenomics And Personalized Medicine, Volume 14, 287-299. https://doi.org/10.2147/pgpm.s289869
Julieta Lazarte, Zachary W Laksman, Jian Wang, John F Robinson, Jacqueline S Dron, Emma Leach, Janet Liew, Adam D McIntyre, Allan C Skanes, Lorne J Gula, Peter Leong-Sit, Henian Cao, Brett Trost, Stephen W Scherer, Robert A Hegele, Jason D Roberts, Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in ‘lone’ atrial fibrillation, EP Europace, 2021; euaa421, https://doi.org/10.1093/europace/euaa421
Tafazoli, A.; Guggilla, R.K.; Kamel-Koleti, Z.; Miltyk, W. Strategies to Improve the Clinical Outcomes for Direct-to-Consumer Pharmacogenomic Tests. Genes 2021, 12, 361. https://doi.org/10.3390/genes12030361
Dugué, P.-A.; Yu, C.; McKay, T.; Wong, E.M.; Joo, J.E.; Tsimiklis, H.; Hammet, F.; Mahmoodi, M.; Theys, D.; kConFab; Hopper, J.L.; Giles, G.G.; Milne, R.L.; Steen, J.A.; Dowty, J.G.; Nguyen-Dumont, T.; Southey, M.C. VTRNA2-1: Genetic Variation, Heritable Methylation and Disease Association. Int. J. Mol. Sci. 2021, 22, 2535. https://doi.org/10.3390/ijms22052535
Zuluaga, D.L.; Lioi, L.; Delvento, C.; Pavan, S.; Sonnante, G. Genotyping-by-Sequencing in Vigna unguiculata Landraces and Its Utility for Assessing Taxonomic Relationships. Plants 2021, 10, 509. https://doi.org/10.3390/plants10030509
Zhang, D., Vega, F.E., Solano, W. et al. Selecting a core set of nuclear SNP markers for molecular characterization of Arabica coffee (Coffea arabica L.) genetic resources. Conservation Genet Resour (2021). https://doi.org/10.1007/s12686-021-01201-y
Pichilingue-Reto, P., Raj, P., Li, QZ. et al. Serum IgG Profiling of Toddlers Reveals a Subgroup with Elevated Seropositive Antibodies to Viruses Correlating with Increased Vaccine and Autoantigen Responses. J Clin Immunol (2021). https://doi.org/10.1007/s10875-021-00993-w
Meta, R.; Boldt, H.B.; Kristensen, B.W.; Sahm, F.; Sjursen, W.; Torp, S.H. The Prognostic Value of Methylation Signatures and NF2 Mutations in Atypical Meningiomas. Cancers 2021, 13, 1262. https://doi.org/10.3390/cancers13061262
Bosa, L., Batura, V., Colavito, D. et al. Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease. Sci Rep 11, 5945 (2021). https://doi.org/10.1038/s41598-021-85399-9
Pienkos, S., Gallego, N., Condon, D., Cruz-Utrilla, A., Ochoa, N., & Nevado, J. et al. (2021). Novel TNIP2 and TRAF2 Variants Are Implicated in the Pathogenesis of Pulmonary Arterial Hypertension. Frontiers In Medicine, 8. https://doi.org/10.3389/fmed.2021.625763
Musfee, F.I.; Agopian, A.J.; Goldmuntz, E.; Hakonarson, H.; Morrow, B.E.; Taylor, D.M.; Tristani-Firouzi, M.; Watkins, W.S.; Yandell, M.; Mitchell, L.E. Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects. Genes 2021, 12, 655. https:// doi.org/10.3390/genes12050655
Strillacci, M.G., Moradi-Shahrbabak, H., Davoudi, P. et al. A genome-wide scan of copy number variants in three Iranian indigenous river buffaloes. BMC Genomics 22, 305 (2021). https://doi.org/10.1186/s12864-021-07604-3
Ascari, G., Rendtorff, N., De Bruyne, M., De Zaeytijd, J., Van Lint, M., & Bauwens, M. et al. (2021). Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss. Frontiers In Cell And Developmental Biology, 9. https://doi.org/10.3389/fcell.2021.664317
Genova, F., Nonnis, S., Maffioli, E. et al. Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits. Sci Rep 11, 8339 (2021). https://doi.org/10.1038/s41598-021-87168-0
Seo, J.Y., Youn, B.J., Cheong, H.S. et al. Association of APOE genotype with lipid profiles and type 2 diabetes mellitus in a Korean population. Genes Genom (2021). https://doi.org/10.1007/s13258-021-01095-y
Miles, A.M.; Posbergh, C.J.; Huson, H.J. Direct Phenotyping and Principal Component Analysis of Type Traits Implicate Novel QTL in Bovine Mastitis through GenomeWide Association. Animals 2021, 11, 1147. https://doi.org/10.3390/ ani11041147
Mardy AH, Hodoglugil U, Yip T, Slovotinek AM. Third case of Bardet-Biedl sydrome caused by a biallelic variant predicted to affect splicing of IFT74. Clinical Genetics. 2021;1-5. https://doi.org/10.1111/cge.13962
J.E. Williams, M.K. McGuire, C.L. Meehan, et al., Key genetic variants associated with variation of Milk oligosaccharides from diverse human populations, Genomics (2021), https://doi.org/10.1016/j.ygeno.2021.04.004
M.E. Heft Neal, E. Gensterblum-Miller, A.D. Bhangale, A. Kulkarni, J. Zhai, J. Smith, C. Brummel, S.K. Foltin, D. Thomas, H. Jiang, J.B. McHugh, J.C. Brenner, Integrative sequencing discovers an ATF1-motif enriched molecular signature that differentiates hyalinizing clear cell carcinoma from mucoepidemoid carcinoma, Oral Oncology,Volume 117,2021,105270,ISSN 1368-8375, https://doi.org/10.1016/j.oraloncology.2021.105270.
Ariyarathne, H.B.P.C.; Correa-Luna, M.; Blair, H.T.; Garrick, D.J.; Lopez-Villalobos, N. Identification of Genomic Regions Associated with Concentrations of Milk Fat, Protein, Urea and Efficiency of Crude Protein Utilization in Grazing Dairy Cows. Genes 2021, 12, 456. https://doi.org/10.3390/genes12030456

2020 Publications

Agarwala, S., Veerappa, A.M. & Ramachandra, N.B. Identification of primary copy number variations reveal enrichment of Calcium, and MAPK pathways sensitizing secondary sites for autism. Egypt J Med Hum Genet 21, 55 (2020). https://doi.org/10.1186/s43042-020-00091-3
Aguilar-Trejo, C., Luna-Nevárez, G., Reyna-Granados, J., Zamorano-Algandar, R., Romo-Rubio, J., & Sánchez-Castro, M. et al. (2020). Polymorphisms associated with the number of live-born piglets in sows infected with the PRRS virus in southern Sonora Mexico. Revista Mexicana De Ciencias Pecuarias, 11(3), 828-847. https://doi.org/10.22319/rmcp.v11i3.5002
Alsultan, A., Essa, M., Aljefri, A., Ayas, M., Alharbi, M., & Alkhayat, N. et al. (2020). Frequency of pathogenic/likely pathogenic germline variants in cancer‐related genes among children with acute leukemia in Saudi Arabia. Pediatric Blood & Cancer, 67(7). https://doi.org/10.1002/pbc.28340
Bennett, J., Kerr, M., Greenway, S., Friederich, M., Van Hove, J., Hittel, D., & Khan, A. (2020). Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder. Molecular Genetics And Metabolism Reports, 24, 100616. https://doi.org/10.1016/j.ymgmr.2020.100616
Bernhardt, E. B., Chamberlin, M. D., Gorlov, I. P., de Abreu, F. B., Bloch, K. J., Peterson, J. D., … Tafe, L. J. (2020). Molecular matching and treatment strategies for advanced stage lung cancer at Dartmouth-Hitchcock Medical Center: A three-year review of a Molecular Tumor Board. Practical Laboratory Medicine, 21, e00174. doi:10.1016/j.plabm.2020.e00174
Byrjalsen A, Hansen TVO, Stoltze UK, Mehrjouy MM, Barnkob NM, Hjalgrim LL, et al. (2020) Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes. PLoS Genet 16(12): e1009231. https://doi.org/10.1371/journal.pgen.1009231
Caspar, S. M., Schneider, T., Meienberg, J., & Matyas, G. (2020). Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes. International Journal of Molecular Sciences, 21(7), 2308. doi:10.3390/ijms21072308
Chaubey, A., Shenoy, S., Mathur, A., Ma, Z., Valencia, C. A., Nallamilli, B. R. R., … Hegde, M. R. (2020). Low Pass-Genome Sequencing: Validation and diagnostic utility from 409 clinical cases of low-pass genome sequencing for the detection of copy number variants (CNVs) to replace constitutional microarray. The Journal of Molecular Diagnostics. doi:10.1016/j.jmoldx.2020.03.008
Davila, K., Howell, A., Nunez, A., Orelien, A., Roe, V., & Rodriguez, D. et al. (2020). 40 PRLR and PCCA variants associated with hair length in Brangus heifers. Journal Of Animal Science, 98(Supplement_4), 16-16. https://doi.org/10.1093/jas/skaa278.030
De Angelis de Carvalho, N., Niitsuma, B. N., Kozak, V. N., Costa, F. D., de Macedo, M. P., Kupper, B. E. C., … Torrezan, G. T. (2020). Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants. Cancers, 12(7), 1848. doi:10.3390/cancers12071848
Djurkin Kušec, I., Bošković, I., Zorc, M., Gvozdanović, K., Škorput, D., Dovč, P., & Kušec, G. (2020). Genomic Characterization of the Istrian Shorthaired Hound. Animals, 10(11), 2013. https://doi.org/10.3390/ani10112013
Douma, Z., Dallel, M., Bahia, W., Ben Salem, A., Hachani Ben Ali, F., Almawi, W. Y., … Mahjoub, T. (2020). Association of estrogen receptor gene variants (ESR1 and ESR2) with polycystic ovary syndrome in Tunisia. Gene, 144560. doi:10.1016/j.gene.2020.144560
Dunuwille, W. M. B., Mashouf, N. Y., Balasuriya, U. B. R., Pusterla, N., & Bailey, E. (2020). Genome‐wide association study for host genetic factors associated with equine herpesvirus type‐1 induced myeloencephalopathy. Equine Veterinary Journal. doi:10.1111/evj.13261
Erman, B., & Çipe, F. (2020). Genetic Screening of the Patients with Primary Immunodeficiency by Whole-Exome Sequencing. Pediatric Allergy, Immunology, And Pulmonology, 33(1), 19-24. https://doi.org/10.1089/ped.2019.1097
Felicio, P. S., Grasel, R. S., Campacci, N., Paula, A. E., Galvão, H. C., Torrezan, G. T., Sabato, C. S., Fernandes, G. C., Souza, C. P., Michelli, R. D., Andrade, C. E., Barros, B. D., Matsushita, M. M., Revil, T., Ragoussis, J., Couch, F. J., Hart, S. N., Reis, R. M., Melendez, M. E., … Palmero, E. I. (2020). Whole‐exome sequencing of non‐ BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer. Human Mutation. https://doi.org/10.1002/humu.24158
Fettke, H., Steen, J. A., Kwan, E. M., Bukczynska, P., Keerthikumar, S., Goode, D., … Nguyen-Dumont, T. (2020). Analytical validation of an error-corrected ultra-sensitive ctDNA next-generation sequencing assay. BioTechniques. doi:10.2144/btn-2020-0045
Garafutdinov, R., Sakhabutdinova, A., Slominsky, P., Aminev, F., & Chemeris, A. (2020). A new digital approach to SNP encoding for DNA identification. Forensic Science International, 317, 110520. https://doi.org/10.1016/j.forsciint.2020.110520
Heft Neal, M., Bhangale, A., Birkeland, A., McHugh, J., Shuman, A., & Rosko, A. et al. (2020). Prognostic Significance of Oxidation Pathway Mutations in Recurrent Laryngeal Squamous Cell Carcinoma. Cancers, 12(11), 3081. https://doi.org/10.3390/cancers12113081
Hirani, N., Joshi, A., Anand, S., Chowdhary, A., Ganesan, K., Agarwal, M., & Phadke, N. (2020). Detection of a Novel Mutation in the rpoB gene in a Multidrug Resistant Mycobacterium tuberculosis Isolate using Whole Genome Next Generation Sequencing. Journal of Global Antimicrobial Resistance. doi:10.1016/j.jgar.2020.03.004
Hisey, E.A., Hermans, H., Lounsberry, Z.T. et al. Whole genome sequencing identified a 16 kilobase deletion on ECA13 associated with distichiasis in Friesian horses. BMC Genomics 21, 848 (2020). https://doi.org/10.1186/s12864-020-07265-8
Iaccarino A, Pisapia P, Pepe F, et alLiquid biopsy for BRAF mutations testing in non-small cell lung cancer: a retrospective studyJournal of Clinical Pathology Published Online First: 04 December 2020. doi: 10.1136/jclinpath-2020-207107
Jespersgaard, C., Bertelsen, M., Arif, F., Gellert-Kristensen, H., Fang, M., & Jensen, H. et al. (2020). Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa. Genes, 11(12), 1517. https://doi.org/10.3390/genes11121517
Jiménez, K., Morel, A., Parada-Niño, L., Alejandra González-Rodriguez, M., Flórez, S., Bolívar-Salazar, D., Becerra-Barona, S., Aguirre-García, A., Murcia, T., Fernanda Castillo, L., Carlosama, C.,Ardila, J., Vaiman, D., Serrano, N., Laissue, P., Identifying new potential genetic biomarkers for HELLP syndrome using massive parallel sequencing, Pregnancy Hypertension: An International Journal of Women's Cardiovascular Health (2020), doi: https://doi.org/10.1016/j.preghy.2020.09.003

Jordan K Hieber, Julia M Dafoe, Cory T Parsons, Don C Anderson, Darrin L Boss, Jane A Boles, Jennifer M Thomson, 44 Inbreeding levels of the Line 1 and Line 4 Hereford cattle populations, Journal of Animal Science, Volume 98, Issue Supplement_4, November 2020, Page 18, https://doi.org/10.1093/jas/skaa278.034
Kerr, M., Hume, S., Omar, F., Koo, D., Barnes, H., Khan, M., … Khan, A. (2020). MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease. Molecular Genetics and Metabolism. doi:10.1016/j.ymgme.2020.08.009
Kopp, N., Amarillo, I., Martinez‐Agosto, J., & Quintero‐Rivera, F. (2020). Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization. American Journal Of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.62025
Kyurkchiyan, S., Popov, T., Kachakova, D., Mihova, K., Petkova, V., & Rangachev, J. et al. (2020). Pathogenic somatic alterations in advanced HPV-negative cell squamous laryngeal carcinoma revealed via targeted next generation sequencing. Genetika, 52(2), 477-494. https://doi.org/10.2298/gensr2002477k
Mathorne, S. W., Ravn, P., Hansen, D., Beck‐Nielsen, S. S., Gjørup, H., Sørensen, K. P., & Fagerberg, C. R. (2020). Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect. Clinical Genetics. doi:10.1111/cge.13725
McManus, C., Paiva, S., Caetano, A., Hermuche, P., Guimarães, R., & Carvalho Jr, O. et al. (2020). Landscape genetics of sheep in Brazil using SNP markers. Small Ruminant Research, 192, 106239. https://doi.org/10.1016/j.smallrumres.2020.106239
Nielsen, M., Graversen, M., Ellebæk, S. B., Kristensen, T. K., Fristrup, C., Pfeiffer, P., … Detlefsen, S. (2020). Next-generation sequencing and histological response assessment in peritoneal metastasis from pancreatic cancer treated with PIPAC. Journal of Clinical Pathology, jclinpath–2020–206607. doi:10.1136/jclinpath-2020-206607
Nyquist, M., Corella, A., Coleman, I., De Sarkar, N., Kaipainen, A., & Ha, G. et al. (2020). Combined TP53 and RB1 Loss Promotes Prostate Cancer Resistance to a Spectrum of Therapeutics and Confers Vulnerability to Replication Stress. Cell Reports, 31(8), 107669. https://doi.org/10.1016/j.celrep.2020.107669
Paim, T., Hay, E., Wilson, C., Thomas, M., Kuehn, L., & Paiva, S. et al. (2020). Genomic Breed Composition of Selection Signatures in Brangus Beef Cattle. Frontiers In Genetics, 11. https://doi.org/10.3389/fgene.2020.00710
Pepe, F., Pisapia, P., Gristina, V., Rocco, D., Micheli, M., & Micheli, P. et al. (2020). Tumor mutational burden on cytological samples: A pilot study. Cancer Cytopathology. https://doi.org/10.1002/cncy.22400
Phruttinarakorn, B., Reungwetwattana, T., & Incharoen, P. (2020). Association of histologic subtypes with genetic alteration and PD‑L1 expression in pulmonary adenocarcinoma. Molecular And Clinical Oncology. https://doi.org/10.3892/mco.2020.2082
Posbergh, C. J., & Huson, H. J. (2020). All sheeps and sizes: a genetic investigation of mature body size across sheep breeds reveals a polygenic nature. Animal Genetics. doi:10.1111/age.13016
Rashid, Z., Sofi, M., Harlapur, S.I. et al. Genome-wide association studies in tropical maize germplasm reveal novel and known genomic regions for resistance to Northern corn leaf blight. Sci Rep 10, 21949 (2020). https://doi.org/10.1038/s41598-020-78928-5
Reis, L. M., Basel, D., McCarrier, J., Weinberg, D. V., & Semina, E. V. (2020). Compound heterozygous splicing CDON variants result in isolated ocular coloboma. Clinical Genetics. doi:10.1111/cge.13824
Ritter, A., Werner, P., Latney, B., Krock, B. L., Santani, A., Bedoukian, E., … Goldmuntz, E. (2020). NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus. American Journal of Medical Genetics Part A. doi:10.1002/ajmg.a.61550
Sato, R., Bandoh, N., Goto, T., Uemura, A., Inoue, N., & Otomo, Y. et al. (2020). Resection of a desmoid-type fibromatosis with a CTNNB1 p.S45P mutation using a cervico-thoracic approach: A case report and literature review. Auris Nasus Larynx. https://doi.org/10.1016/j.anl.2020.05.004
Seabury, C., Oldeschulte, D., Bhattarai, E., Legare, D., Ferro, P., & Metz, R. et al. (2020). Accurate Genomic Predictions for Chronic Wasting Disease in U.S. White-Tailed Deer. G3&Amp;#58; Genes|Genomes|Genetics, 10(4), 1433-1441. https://doi.org/10.1534/g3.119.401002
Sepulveda-Falla, D., Chavez-Gutierrez, L., Portelius, E. et al. A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer’s disease. Acta Neuropathol (2020). https://doi.org/10.1007/s00401-020-02249-0
Smyser, T. J., Tabak, M. A., Slootmaker, C., Robeson, M. S., Miller, R. S., Bosse, M., … Piaggio, A. J. (2020). Mixed ancestry from wild and domestic lineages contributes to the rapid expansion of invasive feral swine. Molecular Ecology. doi:10.1111/mec.15392
Stambuk, C., Staiger, E., Heins, B., & Huson, H. (2020). Exploring physiological and genetic variation of digital cushion thickness in Holstein and Jersey cows and bulls. Journal Of Dairy Science, 103(10), 9177-9194. https://doi.org/10.3168/jds.2020-18290
Strait, A., Linos, K., Tafe, L., & Muller, K. (2020). A Novel Case of Mammary-Type Myofibroblastoma With Sarcomatous Features. International Journal Of Surgical Pathology, 106689692094746. https://doi.org/10.1177/1066896920947465
Strillacci, M. G., Marelli, S. P., & Martinez-Velazquez, G. (2020). Hybrid Versus Autochthonous Turkey Populations: Homozygous Genomic Regions Occurrences Due to Artificial and Natural Selection. Animals, 10(8), 1318. doi:10.3390/ani10081318
Tafazoli, A.; Wawrusiewicz-Kurylonek, N.; Posmyk, R.; Miltyk, W. Pharmacogenomics, How to Deal with Different Types of Variants in Next Generation Sequencing Data in the Personalized Medicine Area. J. Clin. Med. 2021, 10, 34. https://dx.doi.org/10.3390/jcm10010034
Tilahun, Y., Gipson, T. A., Alexander, T., McCallum, M. L., & Hoyt, P. R. (2020). Genome-Wide Association Study towards Genomic Predictive Power for High Production and Quality of Milk in American Alpine Goats. International Journal of Genomics, 2020, 1–12. doi:10.1155/2020/6035694
Van Bergen, N., Ahmed, S., Collins, F., Cowley, M., Vetro, A., & Dale, R. et al. (2020). Mutations in the exocyst component EXOC2 cause severe defects in human brain development. Journal Of Experimental Medicine, 217(10). https://doi.org/10.1084/jem.20192040
Van Buren, S., Minor, K., Grahn, R., Mickelson, J., Grahn, J., & Malvick, J. et al. (2020). A Third MLPH Variant Causing Coat Color Dilution in Dogs. Genes, 11(6), 639. https://doi.org/10.3390/genes11060639
Velandia-Piedrahita, C. A., Morel, A., Fonseca-Mendoza, D. J., Huertas-Quiñones, V. M., Castillo, D., Bonilla, J. D., Hernandez-Toro, C. J., Miranda-Fernández, M. C., Restrepo, C. M., & Cabrera, R. (2020). A novel splice-site mutation in the ELN gene suggests an alternative mechanism for vascular Elastinopathies. The Application of Clinical Genetics, 13, 233-240. https://doi.org/10.2147/tacg.s282240
Vissing, J., Dahlqvist, J., Roudaut, C., Poupiot, J., Richard, I., Duno, M., & Krag, T. (2020). A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity. Human Mutation. https://doi.org/10.1002/humu.24066
Wang, S.-K., Zhang, H., Chavez, M. B., Hu, Y., Seymen, F., Koruyucu, M., … Hu, J. C.-C. (2020). Dental malformations associated with biallelic MMP20 mutations. Molecular Genetics & Genomic Medicine, e1307. doi:10.1002/mgg3.1307
Zsolnai, A., Egerszegi, I., Rózsa, L., & Anton, I. (2020). Genetic status of lowland-type Racka sheep colour variants. Animal, 100080. https://doi.org/10.1016/j.animal.2020.100080
Zhou, B., Ichikawa, R., Parnell, L. D., Noel, S. E., Zhang, X., Bhupathiraju, S. N., … Lai, C.-Q. (2020). Metabolomic Links between Sugar-Sweetened Beverage Intake and Obesity. Journal of Obesity, 2020, 1–10. doi:10.1155/2020/7154738
Kulkarni, K.P.; Vorsa, N.; Natarajan, P.; Elavarthi, S.; Iorizzo, M.; Reddy, U.K.; Melmaiee, K. Admixture Analysis Using Genotyping-by-Sequencing Reveals Genetic Relatedness and Parental Lineage Distribution in Highbush Blueberry Genotypes and Cross Derivatives. Preprints 2020, 2020110577 (doi: 10.20944/preprints202011.0577.v1).
"Shin J-G, Leem S, Kim B, Kim Y, Lee S-G, Song HJ, Seo JY, Park SG, Won H-H, Kang NG, Genome-wide association analysis of 17,019 Korean women identifies variants associated with facial pigmented spots, The Journal of Investigative Dermatology (2020), doi: https://doi.org/10.1016/j.jid.2020.08.007."
Bañales-Luna Maciel; Figueroa-Vega Nicté; Marín-Aragón, Carolina Ivet; Perez-Luque, Elva; Ibarra-Reynoso, Lorena; et al.Scientific Reports (Nature Publisher Group); London Vol. 10, Iss. 1, (2020). DOI:10.1038/s41598-020-67832-7
Bautista‑Medina, M.A., Gallardo‑Blanco, H.L., Martinez‑Garza, L.E., Cerda‑Flores, R.M., Lavalle‑Gonzalez, F.J., & Villarreal‑Perez, J.Z. (2020). Association study in Mexican patients with thyrotoxic hypokalemic periodic paralysis. Biomedical Reports, 13, 24. https://doi.org/10.3892/br.2020.1331
Bhatraju, P.K., Cohen, M., Nagao, R.J. et al. Genetic variation implicates plasma angiopoietin-2 in the development of acute kidney injury sub-phenotypes. BMC Nephrol 21, 284 (2020). https://doi.org/10.1186/s12882-020-01935-1
Díaz-González F, Wadhwa S, Rodriguez-Zabala M, et alBiallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasiaJournal of Medical Genetics Published Online First: 26 October 2020. doi: 10.1136/jmedgenet-2020-107177
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Hisey, E.A., Hermans, H., Lounsberry, Z.T. et al. Whole genome sequencing identified a 16 kilobase deletion on ECA13 associated with distichiasis in Friesian horses. BMC Genomics 21, 848 (2020). https://doi.org/10.1186/s12864-020-07265-8
"Implications of Incidental Germline Findings Identified In the Context of Clinical Whole Exome Sequencing for Guiding Cancer Therapy
Bryan P. Schneider, Leigh Anne Stout, Santosh Philips, Courtney Schroeder, Susanna F. Scott, Cynthia Hunter, Nawal Kassem, Patrick J. Kiel, and Milan Radovich
JCO Precision Oncology 2020 :4, 1109-1121"
Islam S, Reddy UK, Natarajan P, Abburi VL, Bajwa AA, Imran M, et al. (2020) Population demographic history and population structure for Pakistani Nili-Ravi breeding bulls based on SNP genotyping to identify genomic regions associated with male effects for milk yield and body weight. PLoS ONE 15(11): e0242500.
Jacob, A., Pasquier, J., Carapito, R. et al. A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report. BMC Med Genet 21, 182 (2020). https://doi.org/10.1186/s12881-020-01121-y
Kim YW, Lee YH, Kim J, et alGenetic analysis of primary open-angle glaucoma-related risk alleles in a Korean population: the GLAU-GENDISK studyBritish Journal of Ophthalmology Published Online First: 15 September 2020. doi: 10.1136/bjophthalmol-2020-316089
Kim, Y., Seong, H., Lee, J. et al. Genome-wide investigation of a Korean synthetic breed, Woori-Heukdon using the Illumina PorcineSNP60K BeadChip. Genes Genom (2020). https://doi.org/10.1007/s13258-020-01008-5
Krull F, Hirschfeld M, Wemheuer WE and Brenig B (2020) Frameshift Variant in Novel Adenosine-A1-Receptor Homolog Associated With Bovine Spastic Syndrome/Late-Onset Bovine Spastic Paresis in Holstein Sires. Front. Genet. 11:591794. doi: 10.3389/fgene.2020.591794
Li, RHL, Ontiveros, E, Nguyen, N, Stern, JA, Lee, E, Hardy, BT, the 99 Lives Cat Genome Consortium. Precision medicine identifies a pathogenic variant of the ITGA2B gene responsible for Glanzmann's thrombasthenia in a cat. J Vet Intern Med. 2020; 1– 9. https://doi.org/10.1111/jvim.15886
Luna-Nevarez, G., Kelly, A.C., Camacho, L.E. et al. Discovery and validation of candidate SNP markers associated to heat stress response in pregnant ewes managed inside a climate-controlled chamber. Trop Anim Health Prod (2020). https://doi.org/10.1007/s11250-020-02379-3
Meguro, A., Ishihara, M., Petrek, M. et al. Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis. Commun Biol 3, 465 (2020). https://doi.org/10.1038/s42003-020-01185-9
Nacchio, M., Sgariglia, R., Gristina, V., Pisapia, P., Pepe, F., De Luca, C., Migliatico, I., Clery, E., Greco, L., Vigliar, E., Bellevicine, C., Russo, A., Troncone, G., & Malapelle, U. (2020). KRAS mutations testing in non-small cell lung cancer: the role of Liquid biopsy in the basal setting. Journal of Thoracic Disease, 12(7), 3836–3843. https://doi.org/10.21037/jtd.2020.01.19
Pierce CF, Brown VR, Olsen SC, Boggiatto P, Pedersen K, Miller RS, Speidel SE and Smyser TJ (2020) Loci Associated With Antibody Response in Feral Swine (Sus scrofa) Infected With Brucella suis. Front. Vet. Sci. 7:554674. doi: 10.3389/fvets.2020.554674
J. Lippert, S. Bønløkke, A. Utke, et al., Targeted next generation sequencing panel for HPV genotyping in cervical cancer, Experimental and Molecular Pathology (2020), https://doi.org/10.1016/j.yexmp.2020.104568"
Raj, P., Song, R., Zhu, H. et al. Deep sequencing reveals a DAP1 regulatory haplotype that potentiates autoimmunity in systemic lupus erythematosus. Genome Biol 21, 281 (2020). https://doi.org/10.1186/s13059-020-02184-z
Sennaiyan, UN, Phani, NM, Deepak, V, Appaswamy, G, Krishna, MR. Massive parallel sequencing of dried umbilical cord remnants. Am J Med Genet Part A. 2020; 1– 3. https://doi.org/10.1002/ajmg.a.61850
Taranto, F.; D’Agostino, N.; Catellani, M.; Laviano, L.; Ronga, D.; Milc, J.; Prandi, B.; Boukid, F.; Sforza, S.; Graziano, S.; Gullì, M.; Visioli, G.; Marmiroli, N.; Badeck, F.-W.; Minervini, A.P.; Pecorella, I.; Pecchioni, N.; De Vita, P.; Francia, E. Characterization of Celiac Disease-Related Epitopes and Gluten Fractions, and Identification of Associated Loci in Durum Wheat. Agronomy 2020, 10, 1231.
Thongpradit, S., Jinawath, N., Javed, A. et al. MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance. Sci Rep 10, 12712 (2020). https://doi.org/10.1038/s41598-020-69633-4
Tlou Caswell Chokoe, Khanyi Hadebe, Farai Muchadeyi et al. Conservation Status and Historical Relatedness of South African Communal Indigenous Goat Populations Using Genome-Wide Snp Marker, 13 August 2020, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-50797/v1
"Variants in FtsJ RNA 2′-O-Methyltransferase 3 and Growth Hormone 1 are associated with small body size and a dental anomaly in dogs
Sydney R. Abrams, Alexandra L. Hawks, Jacquelyn M. Evans, Thomas R. Famula, Mary Mahaffey, Gary S. Johnson, Jennifer M. Mason, Leigh Anne Clark
Proceedings of the National Academy of Sciences Sep 2020, 202009500; DOI: 10.1073/pnas.2009500117"
Zahari Z, Lee CS, Ibrahim MA, Musa N, Mohd Yasin MA, Lee YY, Tan SC, Mohamad N, Ismail R. Influence of DRD2 polymorphisms on the clinical outcomes of opioiddependent patients on methadone maintenance therapy. J Pharm Bioall Sci 2020;12, Suppl S2:787-803
do Nascimento, P.M., Medeiros, I.G., Falcão, R.M. et al. A decision tree to improve identification of pathogenic mutations in clinical practice. BMC Med Inform Decis Mak 20, 52 (2020). https://doi.org/10.1186/s12911-020-1060-0
"Martin L. Katz, Reuben M. Buckley, Vanessa Biegen, Dennis P. O'Brien, Gayle C. Johnson, Wesley C. Warren and Leslie A. Lyons
Aguiar TFM, Rivas MP, Costa S, Maschietto M, Rodrigues T, Sobral de Barros J, Barbosa AC, Valieris R, Fernandes GR, Bertola DR, Cypriano M, Caminada de Toledo SR, Major A, Tojal I, Apezzato MLP, Carraro DM, Rosenberg C, Lima da Costa CM, Cunha IW, Sarabia SF, Terrada D-L and Krepischi ACV (2020) Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients. Front. Oncol. 10:556. doi: 10.3389/fonc.2020.00556
Akhavanfard, S., Padmanabhan, R., Yehia, L. et al. Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors. Nat Commun 11, 2206 (2020). https://doi.org/10.1038/s41467-020-16067-1
Alhaidan, Y., Christesen, H.T., Højlund, K. et al. A novel gene in early childhood diabetes: EDEM2 silencing decreases SLC2A2 and PXD1 expression, leading to impaired insulin secretion. Mol Genet Genomics (2020). https://doi.org/10.1007/s00438-020-01695-5
Alhaidan, Y., Larsen, M.J., Schou, A.J. et al. Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children. Sci Rep 10, 2114 (2020). https://doi.org/10.1038/s41598-020-58845-3
Article Source: Variants in IL23R-C1orf141 and ADO-ZNF365-EGR2 are associated with susceptibility to Vogt-Koyanagi-Harada disease in Japanese population Sakono T, Meguro A, Takeuchi M, Yamane T, Teshigawara T, et al. (2020) Variants in IL23R-C1orf141 and ADO-ZNF365-EGR2 are associated with susceptibility to Vogt-Koyanagi-Harada disease in Japanese population. PLOS ONE 15(5): e0233464. https://doi.org/10.1371/journal.pone.0233464
Bahrndorff, S., Ruiz-González, A., de Jonge, N. et al. Integrated genome-wide investigations of the housefly, a global vector of diseases reveal unique dispersal patterns and bacterial communities across farms. BMC Genomics 21, 66 (2020). https://doi.org/10.1186/s12864-020-6445-z
Crowgey EL, Soini T, Shah N, Pauniaho SL, Lahdenne P, Wilson DB, Heikinheimo M, Druley TE. Germline Sequencing Identifies Rare Variants in Finnish Subjects with Familial Germ Cell Tumors. Appl Clin Genet. 2020;13:127-137. https://doi.org/10.2147/TACG.S245093
Djomehri, S.I., Gonzalez, M.E., da Veiga Leprevost, F. et al. Quantitative proteomic landscape of metaplastic breast carcinoma pathological subtypes and their relationship to triple-negative tumors. Nat Commun 11, 1723 (2020). https://doi.org/10.1038/s41467-020-15283-z
Dron, J.S., Wang, J., McIntyre, A.D. et al. Six years’ experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias. BMC Med Genomics 13, 23 (2020). https://doi.org/10.1186/s12920-020-0669-2
Du, M., Tian, Y., Tan, W. et al. Plasma cell-free DNA-based predictors of response to abiraterone acetate/prednisone and prognostic factors in metastatic castration-resistant prostate cancer. Prostate Cancer Prostatic Dis (2020). https://doi.org/10.1038/s41391-020-0224-4
Fang CP, Liu TH, Chung RH, Tsou HH, Kuo HW, et al. (2020) Genetic variants in NECTIN4 encoding an adhesion molecule are associated with continued opioid use. PLOS ONE 15(6): e0234549. https://doi.org/10.1371/journal.pone.0234549
G3: GENES, GENOMES, GENETICS Early online June 9, 2020; https://doi.org/10.1534/g3.120.401407"
Henriquez-Henriquez, M., Acosta, M.T., Martinez, A.F. et al. Mutations in sphingolipid metabolism genes are associated with ADHD. Transl Psychiatry 10, 231 (2020). https://doi.org/10.1038/s41398-020-00881-8
Hillestad, B., Makvandi-Nejad, S., Krasnov, A. et al. Identification of genetic loci associated with higher resistance to pancreas disease (PD) in Atlantic salmon (Salmo salar L.). BMC Genomics 21, 388 (2020). https://doi.org/10.1186/s12864-020-06788-4
Hlongwane NL, Hadebe K, Soma P, Dzomba EF and Muchadeyi FC (2020) Genome Wide Assessment of Genetic Variation and Population Distinctiveness of the Pig Family in South Africa. Front. Genet. 11:344. doi: 10.3389/fgene.2020.00344
Hunter LE, Freudenberg-Hua Y, Davies P, et al. Associations of Apolipoprotein E ε4 Genotype and Ball Heading With Verbal Memory in Amateur Soccer Players. JAMA Neurol. Published online January 27, 2020. doi:10.1001/jamaneurol.2019.4828
Jaffey JA, Reading NS, Giger U, et al. Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in cats. J Vet Intern Med. 2019;33:2725–2731. https://doi.org/10.1111/jvim.15637
Liao, Y‐H, Teng, M‐S, Juang, J‐MJ, et al. Genetic determinants of circulating galectin‐3 levels in patients with coronary artery disease. Mol Genet Genomic Med. 2020; 00:e1370. https://doi.org/10.1002/mgg3.1370
Lorraine Mhoswa, Marja M O’Neill, Makobatjatji M Mphahlele, Caryn N Oates, Kitt G Payn, Bernard Slippers, Alexander A Myburg, Sanushka Naidoo, A Genome-Wide Association Study For Resistance To The Insect Pest Leptocybe invasa In Eucalyptus grandis Reveals Genomic Regions And Positional Candidate Defence Genes, Plant and Cell Physiology, , pcaa057, https://doi.org/10.1093/pcp/pcaa057
Katz, M. (2020). Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6. G3: GENES, GENOMES, GENETICS. https://doi.org/10.1534/g3.120.401407
Martinez, S.E., Andresen, M.C., Zhu, Z. et al. Pharmacogenomics of poor drug metabolism in Greyhounds: Cytochrome P450 (CYP) 2B11 genetic variation, breed distribution, and functional characterization. Sci Rep 10, 69 (2020) doi:10.1038/s41598-019-56660-z
Miguez, ACK, de Figueiredo Barros, BD, de Souza, JES, et al. Assessment of somatic mutations in urine and plasma of Wilms tumor patients. Cancer Med. 2020; 00: 1– 12. https://doi.org/10.1002/cam4.3236
Mphahlele, M.M., Isik, F., Mostert-O’Neill, M.M. et al. Expected benefits of genomic selection for growth and wood quality traits in Eucalyptus grandis. Tree Genetics & Genomes 16, 49 (2020). https://doi.org/10.1007/s11295-020-01443-1
Murphy, N.M., Samarasekera, T.S., Macaskill, L. et al. Genome sequencing of human in vitro fertilisation embryos for pathogenic variation screening. Sci Rep 10, 3795 (2020). https://doi.org/10.1038/s41598-020-60704-0
Oliver KF, Geary TW, Kiser JN, Galliou JM, Van Emon ML, et al. (2020) Loci associated with conception rate in crossbred beef heifers. PLOS ONE 15(4): e0230422. https://doi.org/10.1371/journal.pone.0230422
Orly Goldstein, Merav Kedmi, Mali Gana-Weisz, Beatrice Nefussy, Batel Vainer, Yaara Fainmesser, Vivian E. Drory & Avi Orr-Urtreger (2020) A novel mutation in TARDBP segregates with amyotrophic lateral sclerosis in a large family with early onset and fast progression, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, DOI: 10.1080/21678421.2020.1747496
Rute Pereira, Telma Barbosa, Ângela Alves, Rosário Santos, Jorge Oliveira, Mário Sousa. Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough. Advances in Medical Sciences. 2020. Volume 65, Issue 1, Pages 1-11, ISSN 1896-1126, https://doi.org/10.1016/j.advms.2019.10.003.
Scholtens, M., Jiang, A., Smith, A. et al. Genome-wide association studies of lactation yields of milk, fat, protein and somatic cell score in New Zealand dairy goats. J Animal Sci Biotechnol 11, 55 (2020). https://doi.org/10.1186/s40104-020-00453-2
Sewda A, Agopian AJ, Goldmuntz E, Hakonarson H, Morrow BE, Musfee F, et al. (2020) Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects. PLoS ONE 15(6): e0234357. https://doi.org/10.1371/journal.pone.0234357
Shee, K., Chambers, M., Hughes, E.G. et al. Molecular genetic profiling reveals novel association between FLT3 mutation and survival in glioma. J Neurooncol (2020). https://doi.org/10.1007/s11060-020-03567-9
Shieh, C., Jones, N., Vanle, B. et al. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med (2020). https://doi.org/10.1038/s41436-019-0747-z
Sjaarda, C.P., Wood, S., McNaughton, A.J.M. et al. Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism. J Hum Genet (2019) doi:10.1038/s10038-019-0707-0
Sudha K. Nair, Vijay Chaikam, Manje Gowda, Vemuri Hindu, Albrecht E. Melchinger, Prasanna M. Boddupalli. Genetic dissection of maternal influence on in vivo haploid induction in maize. The Crop Journal. 2019, ISSN 2214-5141, https://doi.org/10.1016/j.cj.2019.09.008
Taranto F, D’Agostino N, Rodriguez M, Pavan S, Minervini AP, Pecchioni N, Papa R and De Vita P (2020) Whole Genome Scan Reveals Molecular Signatures of Divergence and Selection Related to Important Traits in Durum Wheat Germplasm. Front. Genet. 11:217. doi: 10.3389/fgene.2020.00217
Zhao, Y. et al. Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. The American Journal of Human Genetics, 106:1, 2020, 26-40. https://doi.org/10.1016/j.ajhg.2019.11.010.
Zou, C., Karn, A., Reisch, B. et al. Haplotyping the Vitis collinear core genome with rhAmpSeq improves marker transferability in a diverse genus. Nat Commun 11, 413 (2020). https://doi.org/10.1038/s41467-019-14280-1

2019 Publications

Agarwal, M. (2019). A Novel Phosphoinositide-3-kinase Adapter Protein 1 Gene Missense Mutation in Familial Cirrhosis. [online] Journal of Clinical and Experimental Hepatology. Available at: https://doi.org/10.1016/j.jceh.2019.02.002.
Aguiar, T. (2019). Mutational burden of hepatoblastomas: a role for the CX3CL1/CX3CR1 chemokine signaling pathway. [online] bioRxiv. Available at: http://dx.doi.org/10.1101/555466.
Ali, H., Al-Mulla, F., Hussain, N. et al. PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease. Sci Rep 9, 4141 (2019) doi:10.1038/s41598-019-40761-w
Al-Mulla, F. (2019). PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease. [online] Scientific Reports. Available at: https://doi.org/10.1038/s41598-019-40761-w.
Amanda J Berberich, Céline Huot, Henian Cao, Adam D McIntyre, John F Robinson, Jian Wang, Robert A Hegele, Copy Number Variation in GCK in Patients With Maturity-Onset Diabetes of the Young, The Journal of Clinical Endocrinology & Metabolism, Volume 104, Issue 8, August 2019, Pages 3428–3436, https://doi.org/10.1210/jc.2018-02574
Antonios Kominakis, Aggeliki Saridaki, George Antonakos. Novel Candidate Genes for Somatic Cell Count in Frizarta Dairy Sheep. International Journal of Genetics and Genomics. Vol. 7, No. 4, 2019, pp. 103-109. doi: 10.11648/j.ijgg.20190704.13
Anyona, S.B., Hengartner, N.W., Raballah, E. et al. Cyclooxygenase-2 haplotypes influence the longitudinal risk of malaria and severe malarial anemia in Kenyan children from a holoendemic transmission region. J Hum Genet (2019) doi:10.1038/s10038-019-0692-3
Anyona, S.B., Hengartner, N.W., Raballah, E. et al. Cyclooxygenase-2 haplotypes influence the longitudinal risk of malaria and severe malarial anemia in Kenyan children from a holoendemic transmission region. J Hum Genet (2019) doi:10.1038/s10038-019-0692-3
Arthur Francisco Araujo Fernandes, Erika R de Alvarenga, Gabriel F O Alves, Ludson G Manduca, Fabio L B Toral, Bruno D Valente, Martinho A Silva, Eduardo M Turra, PSVIII-29 Analysis of genotype by environment interaction across time for Nile tilapia reared in different production systems, Journal of Animal Science, Volume 97, Issue Supplement_3, December 2019, Pages 269–270, https://doi.org/10.1093/jas/skz258.548
Balteanu, V. (2019). The footprint of recent and strong demographic decline in the genomes of Mangalitza pigs. [online] Animal. Available at: https://doi.org/10.1017/S1751731119000582.
Berra, C.M., Torrezan, G.T., Paula, C.A. et al. Use of uracil-DNA glycosylase enzyme to reduce DNA-related artifacts from formalin-fixed and paraffin-embedded tissues in diagnostic routine. Appl Cancer Res 39, 7 (2019) doi:10.1186/s41241-019-0075-2
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2018 Publications

Angela K Lucas-Herald, Andreas Kyriakou, Malika Alimussina, Guilherme Guaragna-Filho, Louise A Diver, Ruth McGowan, Karen Smith, Jane D McNeilly, S Faisal Ahmed, Serum Anti-Müllerian Hormone In The Prediction Of Response To hCG Stimulation In Children With DSD, The Journal of Clinical Endocrinology & Metabolism, dgaa052, https://doi.org/10.1210/clinem/dgaa052
Lencz, T et al. (2018) Apolipoprotein E-ε4 allele predicts escalation of psychotic symptoms in late adulthood Schizophrenia Research, DOI: https://doi.org/10.1016/j.schres.2018.12.010 Abstract
Kiser, J et al. (2018) Rapid Communication: Genome-wide association analyses identify loci associated with colostrum production in Jersey cattle Journal of Animal Science, DOI: https://doi.org/10.1093/jas/sky482 Abstract
Oliveira, J et al. (2018) Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability Nature Chemical Biology, DOI: https://doi.org/10.1038/s41589-018-0177-2 Abstract
Ho, R et al. (2018) Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1 SAGE journals, DOI: https://doi.org/10.1177/2050313X18818711 Abstract
Genova, F et al. (2018) First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data BMC Genomics, DOI: https://doi.org/10.1186/s12864-018-5297-2 Abstract
Kim, J et al. (2018) Mutations in RELT Cause Autosomal Recessive Amelogenesis Imperfecta Clinical Genetics, DOI: https://doi.org/10.1111/cge.13487 Abstract
Pisapia, Pasquale, et al. “Chapter 5 DNA-Based Sequencing Assays.” Molecular Diagnostics in Cytopathology - A Practical Handbook for the Practicing Pathologist . Abstract
Mahmoudi, M et al. (2018) Epistatic Interaction of ERAP1 and HLA-B*51 in Iranian Patients with Behçet’s Disease Scientific Reports, DOI: 10.1038/s41598-018-35700-0 Abstract
Saridaki, A et al. (2018) Combined haplotype blocks regression and multi-locus mixed model analysis reveals novel candidate genes associated with milk traits in dairy sheep Livestock Science, DOI: https://doi.org/10.1016/j.livsci.2018.11.020 Abstract
Gotoh, Y et al. (2018) Genetic assessment of recurrent pancreatic high-risk lesions in the remnant pancreas: Metachronous multifocal lesion or local recurrence? Surgery, DOI: https://doi.org/10.1016/j.surg.2018.10.025 Abstract
Pisapia P., Cieri M., Pepe F., Malapelle U., Troncone G. (2019) DNA-Based Sequencing Assays. In: Roy-Chowdhuri S., VanderLaan P., Stewart J., Santos G. (eds) Molecular Diagnostics in Cytopathology. Springer, Cham Abstract
Højland, A. T., Lolas, I., Okkels, H., Lautrup, C. K., Diness, B. R., Petersen, M. B., & Nielsen, I. K. (2018, August 25). First reported adult patient with TARP syndrome: A case report (Rep.). doi:10.1002/ajmg.a.40638
Bani-Fatemi, A. (2018). Genetics and Epigenetics of Suicidal Behavior (Unpublished master's thesis). University of Toronto. Retrieved November 26, 2018, from https://tspace.library.utoronto.ca/bitstream/1807/91878/3/Bani-Fatemi_Ali_201811_PhD_thesis.pdf
Behunova, J et al. (2018) Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature Molecular Syndromology, DOI: https://doi.org/10.1159/000494451 Abstract
Malapelle, U et al. (2018) Chapter 4 - Next-Generation Sequencing in Clinical Practice Oncogenomics, DOI: https://doi.org/10.1016/B978-0-12-811785-9.00004-1 Abstract
John, S et al. (2018) Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics Scientific Reports, DOI: https://doi.org/10.1038/s41598-018-34815-8 Abstract
Ludwig, M et al. (2018) The genomic landscape of UM-SCC oral cavity squamous cell carcinoma cell lines Oral Oncology, DOI: https://doi.org/10.1016/j.oraloncology.2018.10.031 Abstract
Drobik, W et al. (2018) Detection of copy number variations in brown and white layers based on genotyping panels with different densities Genetics Selection Evolution, DOI: https://doi.org/10.1186/s12711-018-0428-4 Abstract
Ayyavoo, A et al. (2018) Severe familial hypertriglyceridemia: Successful treatment with insulin and a modified meal plan Journal of the Endocrine Society, DOI: https://doi.org/10.1210/js.2018-00299 Abstract
Lu, N et al. (2018) Single-nucleotide polymorphisms(SNPs) in a sucrose synthase gene are associated with wood properties in Catalpa fargesii bur BMC Genetics, DOI: https://doi.org/10.1186/s12863-018-0686-8 Abstract
D'Agostino, N et al. (2018) GBS-derived SNP catalogue unveiled wide genetic variability and geographical relationships of Italian olive cultivars Scientific Reports, DOI: https://doi.org/10.1038/s41598-018-34207-y Abstract
Kapur, A., Singh, N., Mete, O. et al. Endocr Pathol (2018). https://doi.org/10.1007/s12022-018-9552-5 Abstract
Dron, J et al. (2018) Severe hypertriglyceridemia is primarily polygenic Journal of Clinical Lipidology, DOI: https://doi.org/10.1016/j.jacl.2018.10.006 Abstract
Ulintz P.J., Wu W., Gates C.M. (2019) Bioinformatics Analysis of Whole Exome Sequencing Data. In: Malek S. (eds) Chronic Lymphocytic Leukemia. Methods in Molecular Biology, vol 1881. Humana Press, New York, NY Abstract
Geller, A et al. (2018) Genetic and secondary causes of severe HDL deficiency and cardiovascular disease The Journal of Lipid Research, DOI: 10.1194/jlr.M088203 Abstract
Malomane, D et al. (2018) The contribution of different functional SNP classes to genetic variation in global chicken populations World Congress on Genetics Applied to Livestock Production - Conference Paper, DOI: https://doi.org/10.1038/s41598-018-33080-z Abstract
Kretzschmar, T et al. (2018) DNA fingerprinting at farm level maps rice biodiversity across Bangladesh and reveals regional varietal preferences Scientific Reports, DOI: https://doi.org/10.1038/s41598-018-33080-z Abstract
Ferreira, C et al. (2018) A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation American Journal of Human Genetics, DOI: https://doi.org/10.1016/j.ajhg.2018.09.003 Abstract
Chen L, Peng W, Kong S, Pu F, Chen B, Zhou Z, Feng J, Li X and Xu P (2018) Genetic Mapping of Head Size Related Traits in Common Carp (Cyprinus carpio). Front. Genet. 9:448. doi: 10.3389/fgene.2018.00448 Abstract
Zhao, Y et al. (2018) Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects American Journal of Medical Genetics, DOI: https://doi.org/10.1002/ajmg.a.40359 Abstract
Kurz, J.P., Yang, Z., Weiss, R.B. et al. Immunogenetics (2018). https://doi.org/10.1007/s00251-018-1088-9 Abstract
Sokol, J et al. (2018) Glycoprotein VI Gene Variants Affect Pregnancy Loss in Patients With Platelet Hyperaggregability SAGE, DOI: 10.1177/1076029618802358 Abstract
Hieber, J et al. (2018) Identification of genetic markers and QTL for carcass quality traits within the American Simmental Association Carcass Merit Program Translational Animal Science, DOI: https://doi.org/10.1093/tas/txy032 Abstract
Corral, A et al. (2018) Unusual genetic variants associated with hypercholesterolemia in Argentina Atherosclerosis, DOI: https://doi.org/10.1016/j.atherosclerosis.2018.06.009 Abstract
Edea, Z et al. (2018) Genome‐wide scan reveals divergent selection among taurine and zebu cattle populations from different regions Animal Genetics, DOI: https://doi.org/10.1111/age.12724 Abstract
Gilbert, J et al. (2018) Genetic associations and phenotypic heterogeneity in the craniosynostotic rabbit Plos One, DOI: https://doi.org/10.1371/journal.pone.0204086 Abstract
Dillard, K et al. (2018) A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs Plos One, DOI: https://doi.org/10.1371/journal.pone.0204073 Abstract
Higgins, M et al. (2018) GWAS and eQTL analysis identifies a SNP associated with both residual feed intake and GFRA2 expression in beef cattle Scientific Reports, DOI: https://doi.org/10.1038/s41598-018-32374-6 Abstract
Neupane, M et al. (2018) Gene set enrichment analysis of SNP data in dairy and beef cattle with bovine respiratory disease Animal Genetics, DOI: https://doi.org/10.1111/age.12718 Abstract
Kono, M., Bandoh, N., Matsuoka, R. et al. Head and Neck Pathol (2018). https://doi.org/10.1007/s12105-018-0961-z Abstract
Abdulrahman Alsultan, Ahmed M. Al-Suliman, Aamer Aleem, Farjah H. AlGahtani, and Majid Alfadhel.Genetic Testing and Molecular Biomarkers.http://doi.org/10.1089/gtmb.2018.0058 Abstract
Raj P, Pichilingue-Reto P, Dozmorov I, et al GG-08 Immune repertoire and genetic risk alleles in healthy pediatric populations with autoimmune indicators Lupus Science & Medicine 2018;5:doi: 10.1136/lupus-2018-lsm.95 Abstract
Kringel, D., et al. (2018) Development of an AmpliSeq™ panel for next-generation sequencing of a set of genetic predictors of persisting pain Abstract
Song, JS., Seong, HS., Choi, BH. et al. Genes Genom (2018). https://doi.org/10.1007/s13258-018-0733-x
Li, L et al. (2018) Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa PLoS Genetics, DOI: https://doi.org/10.1371/journal.pgen.1007504 Abstract
Nagy P.L., Worman H.J. (2018) Next-Generation Sequencing and Mutational Analysis: Implications for Genes Encoding LINC Complex Proteins. In: Gundersen G., Worman H. (eds) The LINC Complex. Methods in Molecular Biology, vol 1840. Humana Press, New York, NY Abstract
Nandolo, W et al. (2018) Misidentification of runs of homozygosity islands in cattle caused by interference with copy number variation or large intermarker distances Genetics Selection Evolution, DOI: https://doi.org/10.1186/s12711-018-0414-x Abstract
Vélez, J.I., Lopera, F., Creagh, P.K. et al. Mol Neurobiol (2018). https://doi.org/10.1007/s12035-018-1298-z Abstract
Wadl, P et al. (2018) Genetic Diversity and Population Structure of the USDA Sweetpotato (Ipomoea batatas) Germplasm Collections Using GBSpoly Frontiers in Plant Science, DOI: https://doi.org/10.3389/fpls.2018.01166 Abstract
Toth, L et al. (2018) Non–small cell lung cancers with isocitrate dehydrogenase 1 or 2 (IDH1/2) mutations Human Pathology, DOI: https://doi.org/10.1016/j.humpath.2018.04.014 Abstract
Shaaban, S et al. (2018) Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect investigative opthalmology & visual science, DOI: 10.1167/iovs.18-24082 Abstract
Gusareva, E et al. (2018) Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer’s disease Neurobiology of Aging, DOI: https://doi.org/10.1016/j.neurobiolaging.2018.08.001 Abstract
Kim, N.Y., Seong, HS., Kim, D.C. et al. Genes Genom (2018). https://doi.org/10.1007/s13258-018-0722-0
Polani, S et al. (2018) Sequence Variant in the TRIM39-RPP21 Gene Readthrough is Shared Across a Cohort of Arabian Foals Diagnosed with Juvenile Idiopathic Epilepsy Journal of Genetic Mutation Disorders, Abstract
McRae, K et al. (2018) Genome-wide association study of lung lesions and pleurisy in New Zealand lambs Journal of Animal Science, DOI: https://doi.org/10.1093/jas/sky323 Abstract
Iacocca, M et al. (2018) Whole-gene duplication of PCSK9 as a novel genetic mechanism for severe familial hypercholesterolemia Canadian Journal of Cardiology, DOI: https://doi.org/10.1016/j.cjca.2018.07.479 Abstract
Dron, J et al. (2018) Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia Journal of Lipid Research, DOI: 10.1194/jlr.P086280 Abstract
Lyu, S et al. (2018) Reducing the interval of a growth QTL on chromosome 4 in laying hens Animal Genetics, DOI: https://doi.org/10.1111/age.12685 Abstract
Zhou, Y et al. (2018) Statistical Detection of Genome Differences Based on CNV Segments Copy Number Variants. Methods in Molecular Biology, vol 1833, DOI: https://doi.org/10.1007/978-1-4939-8666-8_3 Abstract
Fortier, N et al. (2018) Detection of CNVs in NGS Data Using VS-CNV Copy Number Variants. Methods in Molecular Biology, vol 1833, DOI: https://doi.org/10.1007/978-1-4939-8666-8_9 Abstract
Xu, L et al. (2018) Analysis of Population-Genetic Properties of Copy Number Variations Copy Number Variants. Methods in Molecular Biology, DOI: doi.org/10.1007/978-1-4939-8666-8_14 Abstract
Margraf, R et al. (2018) Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes Child Neurology Open, DOI: 10.1177/2329048X18789282 Abstract
Gutteridge, T et al. (2018) Single Nucleotide Polymorphisms in TAOK3 Are Associated with High Opioid Requirement for Pain Management in Patients with Advanced Cancer Admitted to a Tertiary Palliative Care Unit Journal of Pain and Symptom Management, DOI: https://doi.org/10.1016/j.jpainsymman.2018.07.011 Abstract
Neupane, M et al. (2018) Identification of Loci Associated with Economically Important Traits in Cattle American Society for Clinical ProQuest, Abstract
Wright, G et al. (2018) Pharmacogenomics of vincristine‐induced peripheral neuropathy implicates pharmacokinetic and inherited neuropathy genes American Society for Clinical Pharmacology & Therapeutics, DOI: https://doi.org/10.1002/cpt.1179 Abstract
Wang, L et al. (2018) A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome Journal of Investigative Medicine High Impact Case Reports, DOI: https://doi.org/10.1177/2324709618786770 Abstract
Singer-Berk, M et al. (2018) Genetic risk for squamous cell carcinoma of the nictitating membrane parallels that of the limbus in Haflinger horses Animal Genetics, DOI: https://doi.org/10.1111/age.12695 Abstract
Huusko, J et al. (2018) Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth PLOS Genetics, DOI: https://doi.org/10.1371/journal.pgen.1007394 Abstract
Caniglia, R et al. (2018) Wolf outside, dog inside? The genomic make-up of the Czechoslovakian Wolfdog BMC Genomics, DOI: https://doi.org/10.1186/s12864-018-4916-2 Abstract
Wang, F et al. (2018) Genome wide association and gene validation studies for early root vigor to improve direct seeding of rice Plant, Cell & Environment, DOI: 10.1111/pce.13400 Abstract
Szigeti, K et al. (2018) Copy Number Variations in Adult-onset Neuropsychiatric Diseases Current Genomics, DOI: https://doi.org/10.2174/1389202919666180330153842 Abstract
Liu, Y et al. (2018) Rare Variants in Known Susceptibility Loci and Their Contribution to Risk of Lung Cancer Journal of Thoracic Oncology, DOI: https://doi.org/10.1016/j.jtho.2018.06.016 Abstract
Torring, P et al. (2018) A large-scale whole-genome sequencing analysis reveals highly specific genome editing by both Cas9 and Cpf1 (Cas12a) nucleases in rice Genome Biology, DOI: https://doi.org/10.1186/s13059-018-1458-5 Abstract
Torring, P et al. (2018) Is MED13L-related intellectual disability a recognizable syndrome? European Journal of Medical Genetics, DOI: https://doi.org/10.1016/j.ejmg.2018.06.014 Abstract
Magri, C et al. (2018) The effect of childhood trauma on blood transcriptome expression in major depressive disorder Journal of Psychiatric Research, DOI: https://doi.org/10.1016/j.jpsychires.2018.06.014 Abstract
Cleveland, M et al. (2018) Determining Performance Metrics for Targeted Next-Generation Sequencing Panels Using Reference Materials The Journal of Molecular Diagnostics, DOI: https://doi.org/10.1016/j.jmoldx.2018.04.005 Abstract
Zorc, M et al. (2018) Mining for Structural Variations in Next-Generation Sequencing Data IntechOpen, DOI: 10.5772/intechopen.76568 Abstract
Skerenova, M et al. (2018) The increased serum level of sRAGE is associated with multiple sclerosis but not with disability progression NSN Journal, DOI: 10.5152/NSN.2018.9702 Abstract
Kringel, D et al. (2018) Machine-learned analysis of the association of next-generation sequencing–based human TRPV1 and TRPA1 genotypes with the sensitivity to heat stimuli and topically applied capsaicin The Journal of the International Association for the Study of Pain, DOI: 10.1097/j.pain.0000000000001222 Abstract
Meadus, W. J. et al. (2018) Identification of marbling gene loci in commercial pigs in Canadian herds. Preprints, DOI: 10.20944/preprints201806.0330.v1 Abstract
Armstrong, E, Ciappesoni, G et al. (2018) Novel genetic polymorphisms associated with carcass traits in grazing Texel sheep International Meat Science, DOI: https://doi.org/10.1016/j.meatsci.2018.06.014 Abstract
de Smith, A et al. (2018) BMI1 enhancer polymorphism underlies chromosome 10p12.31 association with childhood acute lymphoblastic leukemia International Journal of Cancer, DOI: https://onlinelibrary.wiley.com/doi/abs/10.1002/ijc.31622 Abstract
Qiao, Y et al. (2018) Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication European Journal of Medical Genetics, DOI: https://doi.org/10.1016/j.ejmg.2018.06.010 Abstract
Di Gerlando, R et al. (2018) Genome-wide detection of copy-number variations in local cattle breeds Animal Production Science, DOI: https://doi.org/10.1071/AN17603 Abstract
Zahari, Z et al. (2018) Sleep quality and OPRM1 polymorphisms: a cross-sectional study among opioid-naive individuals Brazilian Journal of Pharmaceutical Sciences, DOI: http://dx.doi.org/10.1590/s2175-97902018000117217 Abstract
Dheda, K et al. (2018) Drug Penetration Gradients Associated with Acquired Drug Resistance in Tuberculosis Patients ATS Journals, DOI: https://doi.org/10.1164/rccm.201711-2333OC Abstract
Snider, J et al. (2018) Three-year Review of Gene Sequencing Analyses of Pulmonary Non-Small Cell Lung Cancers Obtained by Fine Needle Aspiration or Surgical Biopsy: Mutation and Failure Rates Journal of the American Society of Cytopathology, DOI: https://doi.org/10.1016/j.jasc.2018.04.007 Abstract
Sokol, J et al. (2018) Association of Genetic Variability in Selected Genes in Patients With Deep Vein Thrombosis and Platelet Hyperaggregability Clinical and Applied Thrombosis/Hemostasis, DOI: https://doi.org/10.1177/1076029618779136 Abstract
Wang, J et al. (2018) THE IDENTIFICATION OF NOVEL CNVS IN PATIENTS WITH INHERITED LIPODYSTROPHY Atherosclerosis Supplements, Abstract
Vishweswaraiah, S et al. (2018) Genetic Properties of Copy Number Variations in Some Pakistani Cattle Breeds Kafkas Univ Vet Fak Derg, DOI: 10.9775/kvfd.2018.19282 Abstract
Vishweswaraiah, S et al. (2018) A candidate gene identification strategy utilizing mouse to human big-data mining: “3R-tenet” in COPD genetic research Respiratory Research, DOI: https://doi.org/10.1186/s12931-018-0795-y Abstract
Flesch, E et al. (2018) Evaluating sample size to estimate genetic management metrics in the genomics era Molecular Ecology Resources, DOI: https://doi.org/10.1111/1755-0998.12898 Abstract
Gorla, E et al. (2018) Genomic Diversity Using Copy Number Variations in Worldwide Chicken Populations International Journal of Health, Animal Science & Food Safety, DOI: https://doi.org/10.13130/2283-3927/10032 Abstract
Wang, CC et al. (2018) βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy AJHG, DOI: https://doi.org/10.1016/j.ajhg.2018.04.012 Abstract
McRae, Kathryn & Clarke, Shannon & Johnson, Patricia & Baird, Hayley & Dodds, Ken & McEwan, John & J Rowe, Suzanne. (2018). Genome-wide association for facial eczema tolerance in New Zealand sheep. Abstract
15. A validation study of copy number variant (CNVs) detection to replace constitutional microarray from low resolution whole genome sequencing data Cancer Genetics, DOI: https://doi.org/10.1016/j.cancergen.2018.04.018 Abstract
Sawai, H et al. (2018) Genome-wide association study identified new susceptible genetic variants in HLA class I region for hepatitis B virus-related hepatocellular carcinoma Scientific Reports, DOI: 10.1038/s41598-018-26217-7 Abstract
Kumaran, M et al. (2018) Breast cancer associated germline structural variants harboring small noncoding RNAs impact post-transcriptional gene regulation Scientific Reports, DOI: 10.1038/s41598-018-25801-1 Abstract
Mucha, S et al. (2018) Genome-wide association study of conformation and milk yield in mixed-breed dairy goats Journal of Dairy Science, DOI: https://doi.org/10.3168/jds.2017-12919 Abstract
Drögemöller, B et al. (2018) Further Investigation of the Role of ACYP2 and WFS1 Pharmacogenomic Variants in the Development of Cisplatin-Induced Ototoxicity in Testicular Cancer Patients Clinical Cancer Research, DOI: 10.1158/1078-0432.CCR-17-2810 Abstract
Torrezan, G et al. (2018) Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer Frontiers in Genetics, DOI: https://doi.org/10.3389/fgene.2018.00161 Abstract
Thongnak, C et al. (2018) Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder International Journal of Genomics, DOI: https://doi.org/10.1155/2018/8231547 Abstract
Chalazan, B et al. (2018) Genetic modulation of atrial fibrillation risk in a Hispanic/Latino cohort PLoS One, DOI: https://doi.org/10.1371/journal.pone.0194480 Abstract
Shulskata, M et al. (2018) Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson’s Disease Frontiers in Aging Neuroscience, DOI: https://doi.org/10.3389/fnagi.2018.00136 Abstract
Batista, L et al. (2018) Canine leishmaniasis: Genome-wide analysis and antibody response to Lutzomyia longipalpis saliva PLoS One, DOI: https://doi.org/10.1371/journal.pone.0197215 Abstract
Prince, S et al. (2018) Understanding genetic control of root system architecture in soybean: Insights into the genetic basis of lateral root number Plant, Cell & Environment, DOI: https://doi.org/10.1111/pce.13333 Abstract
Yeetong, P et al. (2018) Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria Skeletal Radiology, DOI: https://doi.org/10.1007/s00256-018-2963-z Abstract
Gadad, B et al. (2018) Association of Novel ALX4 Gene Polymorphisms with Antidepressant Treatment Response: Findings from the CO-MED Trial Molecular Neuropsychiatry, DOI: https://doi.org/10.1159/000487321 Abstract
Olson, N et al. (2018) Central xanthoma of the jaw in association with Noonan syndrome Human Pathology, DOI: https://doi.org/10.1016/j.humpath.2018.04.020 Abstract
Knisley, M et al. (2018) Associations Between Catecholaminergic and Serotonergic Genes and Persistent Breast Pain Phenotypes Following Breast Cancer Surgery The Journal of Pain, DOI: https://doi.org/10.1016/j.jpain.2018.04.007 Abstract
Toth, L et al. (2018) Non-small cell lung cancers with Isocitrate dehydrogenase 1 or 2 (IDH1/2) mutations BMC Genomics, DOI: https://doi.org/10.1016/j.humpath.2018.04.014 Abstract
Zhou, Y et al. (2018) Genome-wide copy number variant analysis reveals variants associated with 10 diverse production traits in Holstein cattle BMC Genomics, DOI: https://doi.org/10.1186/s12864-018-4699-5 Abstract
Ulintz, P et al. (2018) Lymph Node Metastases in Colon Cancer Are Polyclonal Clinical Cancer Research, DOI: 10.1158/1078-0432.CCR-17-1425 Abstract
Cornec-Le Gall, E et al. (2018) Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease AJHG, DOI: https://doi.org/10.1016/j.ajhg.2018.03.013 Abstract
Sukasem, C et al. (2018) Exome sequencing detection of genetic markers for Thai autism spectrum disorder European Psychiatry, DOI: https://doi.org/10.1016/j.eurpsy.2017.02.197 Abstract
Sherrill, J et al. (2018) Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis JCL Insight, DOI: 10.1172/jci.insight.99922 Abstract
Kim, K et al. (2018) Characterization of the Acute Heat Stress Response in Gilts: III. Genome-wide Association Studies of Thermotolerance Traits in Pigs Journal of Animal Science, DOI: https://doi.org/10.1093/jas/sky131 Abstract
Nguyen, N et al. (2018) First High-Density Linkage Map and Single Nucleotide Polymorphisms Significantly Associated With Traits of Economic Importance in Yellowtail Kingfish Seriola lalandi Frontiers in Genetics, DOI: https://doi.org/10.3389/fgene.2018.00127 Abstract
Bani-Fatemi, A et al. (2018) T229. Chromosome 21 Duplication and Cognitive Deficit in Schizophrenia Biological Psychiatry, DOI: https://doi.org/10.1016/j.biopsych.2018.02.566 Abstract
Hindu, V et al. (2018) Identification and validation of genomic regions influencing kernel zinc and iron in maize Theoretical and Applied Genetics, DOI: https://doi.org/10.1007/s00122-018-3089-3 Abstract
Hosburgh, N et al. (2018) Developing a Bioinformatics Program and Supporting Infrastructure in a Biomedical Library Journal of eScience Librarianship, DOI: doi.org/10.7191/jeslib.2018.1129 Abstract
Er, L et al. (2018) Combined effect of acid-sensing ion channel 3 and transient receptor potential vanilloid 1 gene polymorphisms on blood pressure variations in Taiwanese Tzu Chi Medical Journal, DOI: 10.4103/tcmj.tcmj_187_17 Abstract
Barrie, E et al. (2018) Testing Genetic Modifiers of Behavior and Response to Atomoxetine in Autism Spectrum Disorder with ADHD Journal of Developmental and Physical Disabilities, DOI: https://doi.org/10.1007/s10882-018-9590-4 Abstract
Mustafa, H et al. (2018) Performance of bovine high density SNPs genotyping array in indigenous Pakistani cattle breeds Pure and Applied Biology, DOI: http://dx.doi.org/10.19045/bspab.2018.70026 Abstract
Reis, L et al. (2018) PITX2 deficiency and associated human disease: insights from the zebrafish model Human Molecular Genetics, DOI: https://doi.org/10.1093/hmg/ddq052 Abstract
Shen, J et al. (2018) HLA-B*07, HLA-DRB1*07, HLA-DRB1*12 and HLA-C*03:02 Strongly Associate with Body Mass Index: Data from 1.3 Million Healthy Chinese Adults Diabetes, DOI: https://doi.org/10.2337/db17-0852 Abstract
Rainey-Smith, S et al. (2018) Genetic variation in Aquaporin-4 moderates the relationship between sleep and brain Aβ-amyloid burden Translational Psychiatry, DOI: 10.1038/s41398-018-0094-x Abstract
Shajani-Yi, Z et al. (2018) Frequency of Somatic TP53 Mutations in Combination with Known Pathogenic Mutations in Colon Adenocarcinoma, Non–Small Cell Lung Carcinoma, and Gliomas as Identified by Next-Generation Sequencing Neoplasia, DOI: https://doi.org/10.1016/j.neo.2017.12.005 Abstract
Cornec-Le Gall, E et al. (2018) The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations. American Journal of Kidney Diseases, DOI: https://doi.org/10.1053/j.ajkd.2017.11.015 Abstract
Nguyen, N et al. (2018) Genomic prediction using DArT-Seq technology for yellowtail kingfish Seriola lalandi. BMC Genomics, DOI: https://doi.org/10.1186/s12864-018-4493-4 Abstract
Barseghyan, H et al. (2018) Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model. Biology of Sex Differences, DOI: https://doi.org/10.1186/s13293-018-0167-9 Abstract
Kulkarni, K et al. (2018) Comparative genome analysis to identify SNPs associated with high oleic acid and elevated protein content in soybean. Genome, DOI: https://doi.org/10.1139/gen-2017-0158 Abstract
Malomane, D et al. (2018) Efficiency of different strategies to mitigate ascertainment bias when using SNP panels in diversity studies. BMC Genomics, DOI: doi.org/10.1186/s12864-017-4416-9 Abstract
Gueant, J et al. (2018) APRDX1 mutant allele causes a MMACHCsecondary epimutation in cblC patients. Nature Communications, DOI: 10.1038/s41467-017-02306-5 Abstract
Gorlova, O et al. (2018) Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations. PLoS One, DOI: doi.org/10.1371/journal.pone.0189498 Abstract

2017 Publications

Yeo, A et al. (2017) Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib Plos One, DOI: https://doi.org/10.1371/journal.pone.0182115 Abstract
Pinsonneault, J et al. (2017) Intronic SNP in ESR1 encoding human estrogen receptor alpha is associated with brain ESR1 mRNA isoform expression and behavioral traits Plos One, DOI: https://doi.org/10.1371/journal.pone.0179020 Abstract
Jeong, S et al. (2017) Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders PLoS Genetics, DOI: https://doi.org/10.1371/journal.pcbi.1005520 Abstract
Jeong, S et al. (2017) SEXCMD: Development and validation of sex marker sequences for whole-exome/genome and RNA sequencing PLoS Genetics, DOI: https://doi.org/10.1371/journal.pone.0184087 Abstract
Manojlovid, Z et al. (2017) Comprehensive molecular profiling of 718 Multiple Myelomas reveals significant differences in mutation frequencies between African and European descent cases PLoS Genetics, DOI: https://doi.org/10.1371/journal.pgen.1007087 Abstract
Larsen, M et al. (2017) De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities American Journal of Human Genetics, DOI: https://doi.org/10.1016/j.ajhg.2017.11.004 Abstract
M.G. Strillacci, M.C. Cozzi, E. Gorla, F. Mosca, F. Schiavini, S.I. Román-Ponce, F.J. Ruiz López, A. Schiavone, M. Marzoni, S. Cerolini,, A. Bagnato (2017). Genomic and genetic variability of six chicken populations using single nucleotide polymorphism and copy number variants as markers. Animal; 11(5):727-745, doi:10.1017/S1751731116002135.
R.T.M.M. Prinsen, A. Rossoni, B. Gredler, A. Bieber, A. Bagnato, M.G. Strillacci. A genome wide association study between CNVs and quantitative traits in Brown Swiss cattle. (2017). Livestock Science, 202:7-12, https://doi.org/10.1016/j.livsci.2017.05.011.
Bohman, A et al. (2017) A family-based genome-wide association study of chronic rhinosinusitis with nasal polyps implicates several genes in the disease pathogenesis. PLoS One, DOI: https://doi.org/10.1371/journal.pone.0185244 Abstract
Bykhovskaya, Y et al. (2017) TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis. Investigative Ophthalmology & Visual Science, DOI: 10.1167/iovs.17-22819 Abstract
Strillacci, M et al. (2017) Looking at genetic structure and selection signatures of the Mexican chicken population using single nucleotide polymorphism markers. Poultry Science, DOI: https://doi.org/10.3382/ps/pex374 Abstract
Bennett, T et al. (2017) Germ-line and somatic EPHA2 coding variants in lens aging and cataract. PLoS One, DOI: doi.org/10.1371/journal.pone.0189881 Abstract
Saptahkumar, R et al. (2017) HIV-1 Subtypes and 5′LTR-Leader Sequence Variants Correlate with Seroconversion Status in Pumwani Sex Worker Cohort. Viruses, DOI: dx.doi.org/10.3390/v100100045 Abstract
Goldstein, O et al. (2017) High frequency of C9orf72 hexanucleotide repeat expansion in ALS patients from two founder populations sharing the same risk haplotype. Neurology of Aging, DOI: http://dx.doi.org/10.1016/j.neurobiolaging.2017.12.015 Abstract
Neupane, M et al. (2017) Loci and pathways associated with uterine capacity for pregnancy and fertility in beef cattle. PLoS One, DOI: doi.org/10.1371/journal.pone.0188997 Abstract
Martin, S et al. (2017) De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. AJHG, DOI: dx.doi.org/10.1016/j.ajhg.2017.11.004 Abstract
Brick, L et al. (2017) Shared additive genetic variation for alcohol dependence among subjects of African and European ancestry. Addiction Biology, DOI: 10.1111/adb.12578 Abstract
Stoffel, E et al. (2017) Germline Genetic Features of Young Individuals with Colorectal Cancer. Gastroenterology, DOI: dx.doi.org/10.1053/j.gastro.2017.11.004 Abstract
Signer-Hasler, H et al. (2017) Population structure and genomic inbreeding in nine Swiss dairy cattle populations. Genetics Selection Evolution, DOI: doi.org/10.1186/s12711-017-0358-6 Abstract
Page, S et al. (2017) Three variants in the nicotinamide adenine dinucleotide phosphate oxidase complex are associated with HCV-related liver damage. Hepatology Communications, DOI: 10.1002/hep4.1103 Abstract
Sailani, R et al. (2017) WISP3 mutation associated with Pseudorheumatoid Dysplasia. Cold Spring Harbor Laboratory Press, Abstract
Thean, L et al. (2017) Genome-wide association study identified copy number variants associated with sporadic colorectal cancer risk. Journal of Medical Genetics, DOI: dx.doi.org/10.1136/jmedgenet-2017-104913 Abstract
Mukherjee, M et al. (2017) Lumbosacral stenosis in Labrador retriever military working dogs – an exomic exploratory study. Canine Genetics and Epidemiology, DOI: doi.org/10.1186/s40575-017-0052-6 Abstract
Adams, A et al. (2017) Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC. Human Genetics, DOI: 10.1007/s00439-017-1838-z Abstract
Brown, E et al. (2017) Genetic analysis of optic nerve head coloboma in the Nova Scotia Duck Tolling Retriever identifies discordance with the NHEJ1 intronic deletion (collie eye anomaly mutation). Vetrinary Ophthalmology, DOI: 10.1111/vop.12488 Abstract
Broomfield, A et al. (2017) Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe? JIMD Reports, DOI: 10.1007/8904_2017_46 Abstract
Song, H et al. (2017) Use of C57BL/6N mice on the variety of immunological researches. Laboratory Animal Science, DOI: doi.org/10.5625/lar.2017.33.2.119 Abstract
DeRycke, M et al. (2017) Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. Molecular Genetics & Gemonic Medicine, DOI: 10.1002/mgg3.317 Abstract
Stephens, K et al. (2017) Associations between genetic and epigenetic variations in cytokine genes and mild persistent breast pain in women following breast cancer surgery. Cytokine, DOI: doi.org/10.1016/j.cyto.2017.07.006 Abstract
Wallis, C et al. (2017) RE: Germline Mutations in the Kallikrein 6 Region and Predisposition for Aggressive Prostate Cancer. Journal of the National Cancer Institute, DOI: doi.org/10.1093/jnci/djx105 Abstract
Al-absi, B et al. (2017) Contributions of IKZF1, DDC, CDKN2A, CEBPE, and LMO1 Gene Polymorphisms to Acute Lymphoblastic Leukemia in a Yemeni Population. Liebert Publication, DOI: doi.org/10.1089/gtmb.2017.0084 Abstract
Kowalec, K et al. (2017) Application of pharmacogenomics to investigate adverse drug reactions to the disease-modifying treatments for multiple sclerosis: a case–control study protocol for dimethyl fumarate-induced lymphopenia. BMJ Open, DOI: dx.doi.org/10.1136/bmjopen-2017-016276). Abstract
Miaskowski, C et al. (2017) Cytokine Gene Polymorphisms Associated with Symptom Clusters in Oncology Patients Undergoing Radiation Therapy. Journal of Pain and Symptom Management, DOI: 10.1016/j.jpainsymman.2017.05.007 Abstract
Aguilar-Trejo, C. M. et al. (2017) 059 Validation of candidate markers associated with reproductive performance in porcine respiratory and reproductive syndrome virus naturally infected replacement gilts in southern Sonora Mexico. Journal of Animal Science Publication Links, DOI: 10.2527/asasann.2017.059 Abstract
Holzinger, E et al. (2017) Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families. Wiley Online Library, DOI: 10.1002/mgg3.320 Abstract
Giacopuzzi, E et al. (2017) Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways. PLOS One, DOI: doi.org/10.1371/journal.pone.0182778 Abstract
Valdisser, P et al. (2017) In-depth genome characterization of a Brazilian common bean core collection using DArTseq high-density SNP genotyping. BMC Genomics, DOI: 10.1186/s12864-017-3805-4 Abstract
Kowalec, K et al. (2017) Application of pharmacogenomics to investigate adverse drug reactions to the disease-modifying treatments for multiple sclerosis: a case–control study protocol for dimethyl fumarate-induced lymphopenia. BMJ Open, DOI: 10.1136/bmjopen-2017-016276 Abstract
Coble, J et al. (2017) Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing. Human Molecular Genetics, DOI: https://doi.org/10.1093/hmg/ddx204 Abstract
Kringel, D et al. (2017) Next-generation sequencing of the human TRPV1 gene and the regulating co-players LTB4R and LTB4R2 based on a custom AmpliSeq™panel. PLOS One, DOI: https://doi.org/10.1371/journal/pone.0180116 Abstract
Neupane, M et al. (2017) Case Study: Polymelia in a Holstein calf. The Professional Animal Scientist, DOI: https://doi.org/10.15232/pas.2016-01594 Abstract
Nagaya, D et al. (2017) An analysis of genetic association in opioid dependence susceptibility. Journal of Clinical Pharmacy and Therapeutics, DOI: 10.1111/jcpt.12585 Abstract
Spangler, G et al. (2017) Whole genome structural analysis of Caribbean hair sheep reveals quantitative link to West African ancestry. Plos One, DOI: https://doi.org/10.1371/journal.pone.0179021 Abstract
Qiao, Y et al. (2017) Whole exome sequencing of families with 1q21.1 microdeletion or microduplication. American Journal of Medical Genetics, DOI: 10.1002/ajmg.a.38247 Abstract
Kiser, J et al. (2017) Rapid Communication: Subclinical bovine respiratory disease – loci and pathogens associated with lung lesions in feedlot cattle. Journal of Animal Science, DOI: 10.2527/jas.2017.1548 Abstract
Agopian, A et al. (2017) Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. Circulation: Cardiovascular Genetics, DOI: https://doi.org/10.1161/CIRCGENETICS.116.001449 Abstract
Lee, B et al. (2017) Association Between a Polymorphism in CASP3 and CASP9 Genes and Ischemic Stroke. Annals of Rehabilitation Medicine, DOI: https://doi.org/10.5535/arm.2017.41.2.197 Abstract
Kominakis, A et al. (2017) Combined GWAS and ‘guilt by association’-based prioritization analysis identifies functional candidate genes for body size in sheep. Genetics Selection Evolution, DOI: 10.1186/s12711-017-0316-3 Abstract
Drogemoller, B et al. (2017) Association Between SLC16A5 Genetic Variation and Cisplatin-Induced Ototoxic Effects in Adult Patients With Testicular Cancer. JAMA Oncology, DOI: 10.1001/jamaoncol.2017.0502 Abstract
Bellone, R et al. (2017) A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses. International Journal of Cancer, DOI: 10.1002/ijc.30744 Abstract
Ferencakovic, M et al. (2017) Genome-wide mapping and estimation of inbreeding depression of semen quality traits in a cattle population. Journal of Dairy Science, DOI: http://dx.doi.org/10.3168/jds.2016-12164 Abstract
Maragraf, R et al. (2017) Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis. The Journal of Molecular Diagnostics, DOI: http://dx.doi.org/10.1016/j.jmoldx.2017.01.008 Abstract
Li, Lin et al. (2017) Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. iovs, DOI: 10.1167/iovs.17-21424 Abstract
Overton, N et al. (2017) Genetic susceptibility to severe asthma with fungal sensitization. International Journal of Immunogenetics, DOI: 10.1111/iji.12312 Abstract
Hollmann, A et al. (2017) A genome-wide association study reveals a locus for bilateral iridal hypopigmentation in Holstein Friesian cattle. BMC Genetics, DOI: 10.1186/s12863-017-0496-4 Abstract
Garcia-Guerra, A et al. (2017) Follicle dynamics and hormonal environment in a novel high fecundity genotype in cattle. Journal of Animal Science, DOI: 10.2527/asasmw.2017.039 Abstract
Nonneman, D et al. (2017) Evaluation of functional variation in candidate genes for pork quality. Journal of Animal Science, DOI: 10.2527/asasmw.2017.041 Abstract
Kahr, W et al. (2017) Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease. Nature Communications, DOI: 10.1038/ncomms14816 Abstract
Skerenova, M et al. (2017) Low Variability and Stable Frequency of Common Haplotypes of the TP53 Gene Region in Colorectal Cancer Patients in a Slovak Population. Anticancer Research, Abstract
Al-absi, B et al. (2017) Association of ARID5B gene variants with acute lymphoblastic leukemia in Yemeni children. Tumor Biology, Abstract
Brouard, J et al. (2017) Low-depth genotyping-by-sequencing (GBS) in a bovine population: strategies to maximize the selection of high quality genotypes and the accuracy of imputation. BMC Genetics, DOI: 10.1186/s12863-017-0501-y Abstract
Kloss, B et al. (2017) Exome Sequence Analysis of 14 Families With High Myopia. iovs, DOI: 10.1167/iovs.16-20883 Abstract
Nielsen, K et al. (2017) Interactions between SNPs affecting inflammatory response genes are associated with multiple myeloma disease risk and survival. Leukemia & Lymphoma, DOI: http://dx.doi.org/10.1080/10428194.2017.1306643 Abstract
Tabatabaeifar, S et al. (2017) Investigating a case of possible field cancerization in oral squamous cell carcinoma by the use of next-generation sequencing. Oral Oncology, DOI: http://dx.doi.org/10.1016/j.oraloncology.2017.03.018 Abstract
Matosin, N et al. (2017) Effects of common GRM5 genetic variants on cognition, hippocampal volume and mGluR5 protein levels in schizophrenia. Brain Imaging and Behavior, DOI: 10.1007/s11682-017-9712-0 Abstract
Ruiz, P et al. (2017) Integration of in silico methods and computational systems biology to explore endocrine-disrupting chemical binding with nuclear hormone receptors. Chemosphere, DOI: 10.2527/jas.2016.1355 Abstract
Hamidi Hay, E et al. (2017) Genomic prediction and genome-wide association analysis of female longevity in a composite beef cattle breed. Journal of Animal Science, DOI: 10.2527/jas.2016.1355 Abstract
Dilla-Ermita, C et al. (2017) Genome-wide Association Analysis Tracks Bacterial Leaf Blight Resistance Loci In Rice Diverse Germplasm. Rice, DOI: 10.1186/s12284-017-0147-4 Abstract
Mukda, E et al. (2017) Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis. International Journal of Hematology and Oncology, DOI: 10.1007/s12185-017-2223-3 Abstract
Gall, E et al. (2017) PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis. American Journal of Kidney Diseases, DOI: http://dx.doi.org/10.1053/j.ajkd.2017.01.046 Abstract
Kiser, J et al. (2017) Identification of loci associated with susceptibility to Mycobacterium avium subspecies paratuberculosis (Map) tissue infection in cattle. Journal of Animal Science, DOI: 10.2527/jas.2016.1152 Abstract
Norgaard, L et al. (2017) Population genomics of the raccoon dog (Nyctereutes procyonoides) in Denmark: insights into invasion history and population development. Biologial Invasions, DOI: 10.1007/s10530-017-1385-5 Abstract
Hampel, K et al. (2017) Variant call concordance between two laboratory-developed, solid tumor targeted genomic profiling assays using distinct workflows and sequencing instruments. Experimental and Molecular Pathology, DOI: http://dx.doi.org/10.1016/j.yexmp.2017.02.002 Abstract
Malapelle, U et al. (2017) Development of a gene panel for next-generation sequencing of clinically relevant mutations in cell-free DNA from cancer patients. British Journal of Cancer, DOI: 10.1038/bjc.2017.8 Abstract
Evans, J et al. (2017) Beyond the MHC: A canine model of dermatomyositis shows a complex pattern of genetic risk involving novel loci. PLOS Genetics, DOI: http://dx.doi.org/10.1371/journal.pgen.1006604 Abstract
Ference, B et al. (2017) Variation in PCSK9 and HMGCR and Risk of Cardiovascular Disease and Diabetes. The New England Journal of Medicine, DOI: 10.1056/NEJMoa1604304 Abstract
Guo, T et al. (2017) Sexually dimorphic association of the pleiotropic GALNT2 SNPs and haplotypes and serum lipid traits in Jing and Han populations. International Journal of Clinical and Experimental Pathology, ISSN: 1936-2625/IJCEP0028135 Abstract
Li, L et al. (2017) Regulatory Variants Modulate Protein Kinase C α (PRKCA) Gene Expression in Human Heart. Pharmaceutical Research, doi: 10.1007/s11095-017-2102-x Abstract
Byun, E et al. (2017) Cytokine Polymorphisms are Associated with Daytime Napping in Adults Living with HIV. Sleep Medicine, doi: http://dx.doi.org/10.1016/j.sleep.2016.12.021 Abstract
Wu, S et al. (2017) Association between NF-κB Pathway Gene Variants and sICAM1 Levels in Taiwanese. PLOS one, doi: http://dx.doi.org/10.1371/journal.pone.0169516 Abstract
Pavan, S et al. (2017) Genotyping-by-sequencing of a melon (Cucumis melo L.) germplasm collection from a secondary center of diversity highlights patterns of genetic variation and genomic features of different gene pools. BMC Genomics, doi: 10.1186/s12864-016-3429-0 Abstract
Sailani, R et al. (2017) Association of AHSG with alopecia and mental retardation (APMR) syndrome. Human Genetics, doi: 10.1007/s00439-016-1756-5 Abstract
Jiao, X et al. (2017) Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy. European Journal of Human Genetics, doi: 10.1038/ejhg.2016.184 Abstract
Rizk, N et al. (2017) Associations of Vitamin D Receptor Polymorphism rs1544410 with Adiposity Phenotypes. Endocrinology & Metabolism International Journal, doi: 10.15406/emij.2016.03.00069 Abstract
Sokolowski, M et al. (2017) Rare CNVs in Suicide Attempt include Schizophrenia-Associated Loci and Neurodevelopmental Genes: A Pilot Genome-Wide and Family-Based Study. PLOS one, doi: http://dx.doi.org/10.1371/journal.pone.0168531 Abstract
Merkel, P et al. (2017) Identification of functional and expression polymorphisms associated with risk for anti-neutrophil cytoplasmic autoantibody-associated vasculitis. Arthritis & Rheumatology, doi: 10.1002/art.40034 Abstract
Zahari, Z et al. (2017) Relationship Between ABCB1 Polymorphisms and Cold Pain Sensitivity Among Healthy Opioid-Naive Malay Males. Pain Practice, doi: 10.1111/papr.12546 Abstract

2016 Publications

Zhang, J et al. (2016) A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. PLoS One, doi: https://doi.org/10.1371/journal.pgen.1005848 Abstract
Wieneke, H et al. (2016) Polymorphisms in the GNAS Gene as Predictors of Ventricular Tachyarrhythmias and Sudden Cardiac Death: Results From the DISCOVERY Trial and Oregon Sudden Unexpected Death Study. Journal of the American Heart Association, doi: 10.1161/JAHA.116.003905 Abstract
Thongnak, C et al. (2016) Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population. Disease Markers, doi: http://dx.doi.org/10.1155/2016/3684965 Abstract
Peripolli, E et al. (2016) Runs of homozygosity: current knowledge and applications in livestock. Animal Genetics, doi: 10.1038/srep38081 Abstract
Nimmakayala, P et al. (2016) Genome-wide Diversity and Association Mapping for Capsaicinoids and Fruit Weight in Capsicum annuum L. Scientific Reports, doi: 10.1111/age.12526 Abstract
Ference, B et al. (2016) Variation in PCSK9 and HMGCR and Risk of Cardiovascular Disease and Diabetes. The New England Journal of Medicine, doi: 10.1056/NEJMoa1604304 Abstract
Malapelle, U et al. (2016) Next generation sequencing techniques in liquid biopsy: focus on non-small cell lung cancer patients. TLCR, doi: 10.21037/tlcr.2016.10.08 Abstract
Sun, Y et al. (2016) Genetic variants in telomere-maintenance genes are associated with ovarian cancer risk and outcome. Journal of Cellular and Molecular Medicine, doi: 10.1111/jcmm.12995 Abstract
Jattawa, D et al. (2016) Genomic and polygenic evaluations for milk and fat yields in Holstein upgraded Thai dairy cattle. Journal of Animal Science, doi: 10.2527/jam2016-0328 Abstract
Okui, S et al. (2016) Analysis of the association between the LUM rs3759223 variant and high myopia in a Japanese population. Clinical Ophthalmology, doi: 10.2147/OPTH.S104761 Abstract
Seryagin, A et al. (2016) Genome-wide associations study for somatic cell score in Russian Holstein cattle population. American Society of Agronomy, doi: 10.2527/jam2016-0330 Abstract
Overbauer, A et al. (2016) Genome-wide association study for loci associated with digital dermatitis and pododermatitis circumscripta in Holstein cattle. Journal of Animal Science, doi: 10.2527/jam2016-0329 Abstract
Dastan, J et al. (2016) Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication. BMC Medical Genetics, doi: 10.1186/s12881-016-0340-0 Abstract
Nimmakayala, P et al. (2016) Genome-Wide Divergence and Linkage Disequilibrium Analyses for Capsicum baccatumRevealed by Genome-Anchored Single Nucleotide Polymorphisms. Frontiers in Plant Science, doi: http://dx.doi.org/10.3389/fpls.2016.01646 Abstract
Edea, Z et al. (2016) Association of MITF loci with coat color spotting patterns in Ethiopian cattle. Genes & Genomics, doi: 10.1007/s13258-016-0493-4 Abstract
Edea, Z et al. (2016) Association of MITF loci with coat color spotting patterns in Ethiopian cattle. Genes & Genomics, doi: 10.1007/s13258-016-0493-4 Abstract
Higgins, E et al. (2016) Elucidation of MRAS-Mediated Noonan Syndrome With Cardiac Hypertrophy. Circulation, doi: 134:A18770 Abstract
Kasarda, R et al. (2016) Genetic Divergence of Cattle Populations Based on Genomic Information. Animal Sciences, doi: 10.1515/sab-2016-0016 Abstract
Bulayeva, K et al. (2016) Descriptions and Methods of Study in Selected Genetic Isolates of Dagestan. Springer Publishing, 978-3-319-31962-9 Abstract
Wong, M et al. (2016) The PHF21B gene is associated with major depression and modulates the stress response. Molecular Psychiatry, doi: 10.1038/mp.2016.174 Abstract
Mastronardi, C et al. (2016) Linkage and Association Analysis of ADHD Endophenotypes in Extended and Multigenerational Pedigrees from a Genetic Isolate. Molecular Psychiatry, doi: 10.1038/mp.2015.172 Abstract
Nieminen, T et al. (2016) Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis. Oncotarget, doi: 10.18632/oncotarget.12206 Abstract
Eshragn, J et al. (2016) Associations Between Neurotransmitter Genes and Fatigue and Energy Levels in Women Following Breast Cancer Surgery. Journal of Pain and Symptom Management, http://dx.doi.org/10.1016/j.jpainsymman.2016.08.004 Abstract
Pantaliao, G et al. (2016) Genome wide association study (GWAS) for grain yield in rice cultivated under water deficit. Genetica, doi: 10.1007/s10709-016-9932-z Abstract
Erer, B et al. (2016) Evaluation of KIR3DL1/KIR3DS1 polymorphism in Behçet’s disease. Genes and Immunity, doi: 10.1038/gene.2016.36 Abstract
Matsunami, K et al. (2016) Genome-Wide Association Study Identifies ZNF354C Variants Associated with Depression from Interferon-Based Therapy for Chronic Hepatitis C. PLOS one, http://dx.doi.org/10.1371/journal.pone.0164418 Abstract
Fonseca, P et al. (2016) Retelling the recent evolution of genetic diversity for Guzerá: Inferences from LD decay, runs of homozygosity and Ne over the generations. Livestock Science, http://dx.doi.org/10.1016/j.livsci.2016.10.006 Abstract
Gelineau, R et al. (2016) Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient. Genes, doi: 10.3390/genes7100085 Abstract
Rao, A et al. (2016) Rare deleterious mutations are associated with disease in bipolar disorder families. Molecular Psychiatry, doi: 10.1038/mp.2016.181 Abstract
Melhelm, M et al. (2016) Novel G6B gene variant cause familial autosomal recessive thrombocytopenia and anemia. European Journal of Haematology, 10.1111/ejh.12819 Abstract
Barrie, E et al. (2016) The CHRNA5/CHRNA3/CHRNB4 Nicotinic Receptor Regulome: Genomic Architecture, Regulatory Variants, and Clinical Associations. Human Mutation, doi: 10.1002/humu.23135 Abstract
Palmer, R et al. (2016) A Preliminary Study of Genetic Variation in the Dopaminergic and Serotonergic Systems and Genome-Wide Additive Genetic Effects on Depression Severity and Treatment Response. Clinical Psychological Science, 10.1177/2167702616651075 Abstract
Gonzalez, S et al. (2016) Replication of genome-wide association study (GWAS) susceptibility loci in a Latino bipolar disorder cohort. Bipolar Disorders, doi: 10.1111/bdi.12438 Abstract
Zaidi, P et al. (2016) Genomic Regions Associated with Root Traits under Drought Stress in Tropical Maize. PLOS One, http://dx.doi.org/10.1371/journal.pone.0164340 Abstract
Reis, L et al. (2016) Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. Molecular Vision, Abstract
Kunihom, M et al. (2016) Human leucocyte antigen class I and II imputation in a multiracial population. International Journal of Immunogenetics, doi: 10.1111/iji.12292 Abstract
Vinn, C et al. (2016) Isoniazid clearance is impaired among HIV/tuberculosis patients with high levels of immune activation. British Journal of Clinical Pharmacology, doi: 10.1111/bcp.13172 Abstract
Overton, N et al. (2016) Genetic susceptibility to allergic bronchopulmonary aspergillosis in asthma: a genetic association study. Allergy, Asthma & Clinical Immunology, doi: 10.1186/s13223-016-0152-y Abstract
Hadfield, T et al. (2016) P5052 Genetic investigation of sheep families demonstrating the entropion eye condition. Journal of Animal Science, doi: 10.2134/jas2016.947supplement4140a Abstract
Liang, K et al. (2016) UGT2B28 genomic variation is associated with hepatitis B e-antigen seroconversion in response to antiviral therapy. Scentific Reports, doi: 10.1038/srep34088 Abstract
Kober, K et al. (2016) Polymorphisms in Cytokine Genes are Associated with Higher Levels of Fatigue and Lower Levels of Energy in Women Following Breast Cancer Surgery. Journal of Pain and Symptom Management, http://dx.doi.org/10.1016/j.jpainsymman.2016.04.014 Abstract
Nimmakayala, P et al. (2016) Genome-Wide Differentiation of Various Melon Horticultural Groups for Use in GWAS for Fruit Firmness and Construction of a High Resolution Genetic Map. Frontiers in Plant Science, http://dx.doi.org/10.3389/fpls.2016.01437 Abstract
Gagliard, S et al. (2016) Palmoplantar Keratoderma and Charcot-Marie-Tooth: combination of two independent genetic diseases? Identification of two point mutations in CMT2 and PPK genes by whole exome sequencing. British Journal of Dermatology, 10.1111/bjd.15066 Abstract
Tafe, L et al. (2016) Clinical Genotyping of Non–Small Cell Lung Cancers Using Targeted Next-Generation Sequencing: Utility of Identifying Rare and Co-mutations in Oncogenic Driver Genes. Neoplasia, http://dx.doi.org/10.1016/j.neo.2016.07.010 Abstract
Perdigones, N et al. (2016) Clonal Hematopoiesis in Patients with Dyskeratosis Congenita. American Journal of Hematology, doi: 10.1002/ajh.24552 Abstract
Happ, H et al. (2016) Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract. BMC Medical Genetics, 10.1186/s12881-016-0316-0 Abstract
Aguilar, M et al. (2016) Genome-wide association study for milk somatic cell score in holstein cattle using copy number variation as markers. Journal of Animal Breeding and Genetics, doi: 10.1111/jbg.12238 Abstract
Velez, J et al. (2016) Mutations modifying sporadic Alzheimer's disease age of onset. Molecular Psychiatry, doi: 10.1002/ajmg.b.32493 Abstract
Hawi, Z et al. (2016) Rare DNA variants in the brain-derived neurotrophic factor gene increase risk for attention-deficit hyperactivity disorder: a next-generation sequencing study. American Journal of Medical Genetics, doi: 10.1038/mp.2016.117 Abstract
Ackerman, J et al. (2016) Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome. Congenital Heart Disease, doi: 10.1111/chd.12400 Abstract
Liebe, R et al. (2016) Heterozygous Inactivation of the Nuclear Receptor PXR/NR1I2 in a Patient With Anabolic Steroid-Induced Intrahepatic Cholestasis. Hepatitis Monthly, doi: 10.5812/hepatmon.35953 Abstract
Cheah, P et al. (2016) Genome-wide haplotype association tests identified three candidate loci associated with sporadic colorectal cancer risk in Singapore Chinese. Cancer Research, doi: 10.1158/1538-7445.AM2016-2559 Abstract
Prinsen, R et al. (2016) A genome-wide scan of copy number variants using high-density SNPs in Brown Swiss dairy cattle. Livestock Science, doi: http://dx.doi.org/10.1016/j.livsci.2016.08.006 Abstract
Ubeagha-Awemu, E et al. (2016) High density genome wide genotyping-by-sequencing and association identifies common and low frequency SNPs, and novel candidate genes influencing cow milk traits. Scientific Reports, doi: 10.1038/srep31109 Abstract
Goffinet, L et al. (2016) Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations. Journal of Medical Genetics, doi: 10.1136/jmedgenet-2016-104111 Abstract
Noce, A et al. (2016) Variations at regulatory regions of the milk protein genes are associated with milk traits and coagulation properties in the Sarda sheep. Animal Genetics, doi: 10.1111/age.12474 Abstract
Martinez, A et al. (2016) An Ultraconserved Brain-specific Enhancer withinADGRL3 (LPHN3) Underpins ADHD Susceptibility. Biological Psychiatry, doi: http://dx.doi.org/10.1016/j.biopsych.2016.06.026 Abstract
Cardoso, M et al. (2016) Truncating and missense PPM1D mutations in early-onset and/or familial/hereditary prostate cancer patients. Genes, Chromosomes & Cancer, doi: 10.1002/gcc.22393 Abstract
Hill-Burns, E et al. (2016) Identification of genetic modifiers of age-at-onset for familial Parkinson’s disease. Human Molecular Genetics, Abstract
Ramanan, V et al. (2016) The clinical utility of a custom-developed targeted next-generation sequencing assay for detection of mutations associated with Philadelphianegative chronic myeloproliferative neoplasms: Two case examples with CALR exon 9 mutations. International Journal of Molecular & ImmunoOncology, Abstract
Murthy, M et al. (2016) High-resolution arrays reveal burden of copy number variations on Parkinson disease genes associated with increased disease risk in random cohorts Neurological Research, doi: 10.1080/01616412.2016.1204105 Abstract
Chon, J et al. (2016) Association Between a Polymorphism (rs2071214) in Baculoviral IAP Repeat Containing 5 Gene (BIRC5) and Ischemic Stroke in Korean Population Annals of Rehabilitation Medicine, doi: http://dx.doi.org/10.5535/arm.2016.40.3.392 Abstract
Cierny, D et al. (2016) ApaI, BsmI and TaqI VDR gene polymorphisms in association with multiple sclerosis in Slovaks. Neurological Research, doi: 10.1080/01616412.2016.1200287 Abstract
Jiao, X et al. (2016) A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts. PLOS one, doi: http://dx.doi.org/10.1371/journal.pone.0157005 Abstract
Mdladla, K et al. (2016) Population genomic structure and linkage disequilibrium analysis of South African goat breeds using genome-wide SNP data. Animal Genetics, doi: 10.1111/age.12442 Abstract
Bai, J et al. (2016) A genome-wide association analysis of chromosomal aberrations and Hirschsprung disease. Livestock Science, doi: 10.1016/j.trsl.2016.06.001 Abstract
Muniz, M et al. (2016) Application of genomic data to assist a community-based bredding program: A preliminary study of coat color genetics in morada nova sheep. Livestock Science, doi: 10.1016/j.livsci.2016.06.006 Abstract
Zahari, Z et al. (2016) Relationship between ABCB1 polymorphisms and serum methadone concentration in patients undergoing methadone maintenance therapy (MMT). The American Journal of Drug and Alcohold Abuse, doi: 10.3109/00952990.2016.1172078 Abstract
Reis, L et al. (2016) Whole Exome Sequencing Identifies Multiple Diagnoses in Congenital Glaucoma with Systemic Anomalies. Clinical Genetics, doi: 10.1111/cge.12816 Abstract
Porath, B et al. (2016) Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. BMC Genomics, doi: 10.1016/j.ajhg.2016.05.004 Abstract
Fleming, D et al. (2016) Genomic analysis of Ugandan and Rwandan chicken ecotypes using a 600 k genotyping array. American Journal of Human Genetics, doi: 10.1186/s12864-016-2711-5 Abstract
Ko, Y et al. (2016) CRP and SAA1 Haplotypes Are Associated with Both C-Reactive Protein and Serum Amyloid A Levels: Role of Suppression Effects. Mediators of Inflammation, doi: http://dx.doi.org/10.1155/2016/5830361 Abstract
Zhou, Y et al. (2016) Genome-wide CNV analysis reveals variants associated with growth traits in Bos indicus. BMC Genomics, doi: 10.1186/s12864-016-2461-4 Abstract
Palmer, R et al. (2016) Evidence of Shared Genome-Wide Additive Genetic Effects on Interpersonal Trauma Exposure and Generalized Vulnerability to Drug Dependence in a Population of Substance Users. Journal of Traumatic Stress, doi: 10.1002/jts.22103 Abstract
Takeuchi, M et al. (2016) A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet's disease in HLA-B*51 carriers. Annals of the Rheumatic Diseases, doi: 10.1136/annrheumdis-2015-209059 Abstract
Klicheski, A et al. (2016) Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies. Journal of Veterinary Internal Medicine, doi: 10.1111/jvim.13971 Abstract
Johar, A et al. (2016) Definition of mutations in polyautoimmunity. Journal of Autoimmunity, doi: 10.1016/j.jaut.2016.05.003 Abstract
Tan, P et al. (2016) Interactive Exploration, Analysis, and Visualization of Complex Phenome–Genome Datasets with ASPIREdb. Human Mutation, doi: 10.1002/humu.23011 Abstract
Lapin, V et al. (2016) Regulating whole exome sequencing as a diagnostic test. Human Genetics, doi: 10.1007/s00439-016-1677-3 Abstract
Wu, S et al. (2016) Interactive effects of C-reactive protein levels on the association between APOE variants and triglyceride levels in a Taiwanese population. Lipids in Health and Disease, doi: 10.1186/s12944-016-0262-z Abstract
Cooper, T et al. (2016) Genomic evaluation, breed identification, and population structure of Guernsey cattle in North America, Great Britain, and the Isle of Guernsey . Journal of Dairy Science, doi: http://dx.doi.org/10.3168/jds.2015-10445 Abstract
Alexander, K et al. (2016) Phenotypic and molecular characteristics associated with various domains of quality of life in oncology patients and their family caregivers . The Pharmacogenomics Journal, doi: 10.1007/s11136-016-1310-x Abstract
Kringel, D. et al. (2016) Emergent biomarker derived from next-generation sequencing to identify pain patients requiring uncommonly high opioid doses. Quality of Life Research, doi: 10.1038/tpj.2016.28 Abstract
Pearson, R. et al. (2016) Additive genetic contribution to symptom dimensions in major depressive disorder. Journal of Abnormal Psychology, doi: http://dx.doi.org/10.1037/abn0000161 Abstract
Zhang, J. et al. (2016) A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. PLOS Genetics, doi: http://dx.doi.org/10.1371/journal.pgen.1005848 Abstract
Brym, P. et al. (2016) Genome-wide association study for host response to bovine leukemia virus in Holstein cows. Veterinary Immunology and Immunopathology, doi: 10.1016/j.vetimm.2016.04.012 Abstract
Arcos-Burgos, M. et al. (2016) Neural Plasticity in Obesity and Psychiatric Disorders. Neural Plasticity, doi: 10.1038/gene.2016.17 Abstract
Ko, Y. et al. (2016) CRP and SAA1 haplotypes are associated with both C-reative protein and serum amyloid A levels: Role of Suppression effects. Abstract
Ahmed, R. et al. (2016) Association of DPP4 Gene Polymorphisms with Type 2 Diabetes Mellitus in Malaysian Subjects. PLOS one, doi: http://dx.doi.org/10.1371/journal.pone.0154369 Abstract
Rozenkrantz, L. et al. (2016) SEPT14 Is Associated with a Reduced Risk for Parkinson’s Disease and Expressed in Human Brain. Journal of Molecular Neuroscience, doi: 10.1007/s12031-016-0738-3 Abstract
Assadi, G. et al. (2016) LACC1 polymorphisms in inflammatory bowel disease and juvenile idiopathic arthritis. Genes & Immunity, doi: 110.1038/gene.2016.17 Abstract
Fatemi, A. et al. (2016) GWAS analysis of suicide attempt in schizophrenia: Main genetic effect and interaction with early life trauma. Neuroscience Letters, doi: 10.1016/j.neulet.2016.04.043 Abstract
Wang, K. et al. (2016) Model Selection in Survival Analysis of EXT2 Gene Polymorphisms with Age at Onset of Type 2 Diabetes. SciDOC Publishers, Abstract
Muller, K. et al. (2016) Targeted next-generation sequencing detects a high frequency of potentially actionable mutations in metastatic breast cancers. Experimental and Molecular Pathology, doi: 10.1016/j.yexmp.2016.04.002 Abstract
Cropp, C. et al. (2016) Rare variant discovery in known cancer genes from whole-exome sequencingof African American hereditary prostate cancer families. Cancer Epidemiology Biomarkers & Prevention, doi: 10.1158/1538-7755.DISP15-B40 Abstract
Geisel, M. et al. (2016) Update of the effect estimates for common variants associated with carotid intima media thickness within four independent samples: The Bonn IMT Family Study, the Heinz Nixdorf Recall Study, the SAPHIR Study and the Bruneck Study. Atherosclerosis, doi: http://dx.doi.org/10.1016/j.atherosclerosis.2016.03.042 Abstract
Knaust, J. et al. (2016) Epistatic interactions between at least three loci determine the “rat-tail” phenotype in cattle. Genetics Selection Evolution, doi: 10.1186/s12711-016-0199-8 Abstract
Staiger, E. et al. (2016) Host genetic influence on papillomavirus-induced tumors in the horse . International Journal of Cancer, doi: 10.1002/ijc.30120 Abstract
Kroigard, A. et al. (2016) Evaluation of Nine Somatic Variant Callers for Detection of Somatic Mutations in Exome and Targeted Deep Sequencing Data. PLOS one, doi: 10.1371/journal.pone.0151664 Abstract
Staiger, E. et al. (2016) Loci impacting polymorphic gait in the Tennessee Walking Horse. Journal of Animal Science, Abstract
Xu, K. et al. (2016) Population-genetic properties of differentiated copy number variations in cattle. Scientific Reports, doi: 10.1038/srep23161 Abstract
Kornilov, S. et al. (2016) Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population. Pediatrics, Abstract
Bagheri, H. et al. (2016) Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis. JCI Insight, doi: 10.1172/jci.insight.85461 Abstract
Fong, K. et al. (2016) A mutation disrupting TET1 activity alters the expression of genes critical for neural tube closure in the tuft mouse. Disease Models & Mechanisms, doi: 10.1242/dmm.024109
Ma, X. et al. (2016) Polymorphism rs7278468 is associated with Age-related cataract through decreasing transcriptional activity of theCRYAA promoter. Scientific Reports, doi: 10.1038/srep23206 Abstract
Matakova, T. et al. (2016) Associations of CYP1A2 Polymorphisms with the Risk Haplotypes in Lung Cancer in the Slovak Population. Advances in Experimental Medicine and Biology, doi: 10.1007/5584_2016_220 Abstract
Santos, M. et al. (2016) The role of IL18-607C > A and IL18-137G > C promoter polymorphisms in antidepressant treatment phenotypes: a preliminary report. Neuroscience Letters, doi: 10.1016/j.neulet.2016.03.026 Abstract
Halasova, E. et al. (2016) Polymorphisms of Selected DNA Repair Genes and Lung Cancer in Chromium Exposure. Advances in Experimental Medicine and Biology, doi: 10.1007/5584_2016_218 Abstract
Biernacka, A. et al. (2016) The potential utility of re-mining results of somatic mutation testing: KRAS status in lung adenocarcinoma. Cancer Genetics, doi: 10.1016/j.cancergen.2016.03.001 Abstract
Staiger, E. et al. (2016) Genome-wide association mapping of heritable temperament variation in the tennessee walking horse. Genes, Brain and Behavior, doi: 10.1111/gbb.12290 Abstract
Veerappa, A. et al. (2016) Copy Number Variation of UGT 2B Genes in Indian Families Using Whole Genome Scans. Journal of Nucleic Acids, doi: 10.1155/2016/1648527 Abstract
Fard, D. et al. (2016) Candidate gene variants of the immune system and sudden infant death syndrome. International Journal of Legal Medicine, doi: 10.1007/s00414-016-1347-y Abstract
Turner, S. et al. (2016) The Pitfalls of Companion Diagnostics: Evaluation of Discordant EGFR Mutation Results from a Clinical Laboratory and a Central Laboratory. The Journal of Molecular Diagnostics, doi: 10.1016/j.jmoldx.2015.12.004 Abstract
Yoo, S. et al. (2016) Polymorphism of Nitric Oxide Synthase 1 Affects the Clinical Phenotypes of Ischemic Stroke in Korean Population. KoreaMed Synapse, doi: 10.5535/arm.2016.40.1.102 Abstract
Kim, D. et al. (2016) Interleukin-6 Receptor Polymorphisms Contribute to the Neurological Status of Korean Patients with Ischemic Stroke. Journal of Korean Medical Science doi: 10.3346/jkms.2016.31.3.430 Abstract
Stevenson, J. et al. (2016) Antipsychotic pharmacogenomics in first episode psychosis: a role for glutamate genes. Translational Psychiatry doi: 10.1038/tp.2016.10 Abstract
Hardiman, K. et al. (2016) Intra-tumor genetic heterogeneity in recatal cancer. Nature, doi: 10.1038/labinvest.2015.131 Abstract
Nguyen, L. et al. (2016) Effects of TEX11 and Polymorphims on Reproduction and Growth Traits in Australian Beed Cattle. PAABG Abstract
Fortes, M. et al. (2016) Non-Synonimous Polymorphism in Helb is Associated With Male and Female Reproductive Traits in Cattle. PAABG Abstract
Muchadeyi, F. et al. (2016) Runs Of Homozygosity In Swakara Pelt Producing Sheep: Implications On Sub-Vital Performance. PAABG Abstract
Khan, S. et al. (2016) RNA sequencing reveals the consequences of a novel insertion in dedicator of cytokinesis-8. Journal of Allergy and Clinical Immunology, doi: 10.1016/j.jaci.2015.11.033 Abstract
Villarreal-Martínez, A. et al. (2016) Candidate gene polymorphisms and risk of psoriasis: A pilot study. Experimental and Therapeutic Medicine, doi: 10.3892/etm.2016.3066 Abstract
Abreu, F. et al. (2016) Effective quality management practices in routine clinical next-generation sequencing. Clinical Chemistry and Laboratory Medicine, doi: 10.1515/cclm-2015-1190 Abstract
Qiao, Y. et al. (2016) Whole Exome Sequencing in Recurrent Early Pregnancy Loss (RPL). Molecular Human Reproduction, doi: 10.1093/molehr/gaw008 Abstract
Zahari, Z. et al. (2016) The AC/AG Diplotype for the 118A>G and IVS2 + 691G>C Polymorphisms of OPRM1 Gene is Associated with Sleep Quality Among Opioid-Dependent Patients on Methadone Maintenance Therapy. Pain and Therapy, doi: 10.1007/s40122-016-0044-3 Abstract
Weber, J. et al. (2016) Sentieon DNA pipeline for variant detection - Software-only solution, over 20x faster thank GATK 3.3 with identicle results. PeerJPreprints Abstract
Badar, S. et al. (2016) Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload. American Journal of Hematology, doi: 10.1002/ajh.24304 Abstract
Cheng, S. et al. (2016) Association of ABCG2 rs2231142-A allele and serum uric acid levels in male and obese individuals in a Han Taiwanese population. Journal of the Formosan Medical Association, doi: 10.1016/j.jfma.2015.12.002 Abstract
Patil, G. et al. (2016) Genomic-assisted haplotype analysis and the development of high-throughput SNP markers for salinity tolerance in soybean. Scientific Reports, doi: 10.1038/srep19199 Abstract
Nishisako, M. et al. (2016) SLC1A1 Gene Variants and Normal Tension Glaucoma: An Association Study. Ophthalmic Genetics, doi: 10.3109/13816810.2015.1028649 Abstract
McCoy, A. et al. (2016) Identification and validation of risk loci for osteochondrosis in standardbreds. BioMed Central, doi: 10.1186/s12864-016-2385-z Abstract
Liu, Y. et al. (2016) Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer. Journal of Thoracic Oncology, doi: http://dx.doi.org/10.1016/j.jtho.2015.09.015 Abstract
Goldstein, O. et al. (2016) OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes. Neurology, doi: http:/?/?dx.?doi.?org/?10.?1212/?WNL.?0000000000002334 Abstract
Friedenberg, G et al. (2016) Evaluation of a DLA-79 allele associated with multiple immune-mediated diseases in dogs. Immuno Genetics, doi: 10.?1007/?s00251-015-0894-6 Abstract
Ho, K. et al. (2016) Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf?Hirschhorn syndrome. Journal of Medical Genetics, doi: 10.1136/jmedgenet-2015-103626 Abstract
Morgan, E et al. (2016) Identification of Genetic Markers for Ventricular Septal Defects in Arabian Horses. Vetmed Abstract
Werner, P. et al. (2016) MESP1 Mutations in Patients with Congenital Heart Defects. Human Mutation, doi: 10.1002/humu.22947 Abstract

2015 Publications

Nutsua, M et al. (2015) Family-Based Benchmarking of Copy Number Variation Detection Software PLoS One, https://doi.org/10.1371/journal.pone.0133465 Abstract
Sheng, M et al. (2015) Association of CDH13 Genotypes/Haplotypes with Circulating Adiponectin Levels, Metabolic Syndrome, and Related Metabolic Phenotypes: The Role of the Suppression Effect PLoS One, https://doi.org/10.1371/journal.pone.0122664 Abstract
Deml, B et al. (2015) Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts PLoS One, https://doi.org/10.1371/journal.pgen.1005002 Abstract
Herrera, V, T. et al. (2015) A Functional 12T-Insertion Polymorphism in the ATP1A1 Promoter Confers Decreased Susceptibility to Hypertension in a Male Sardinian Population PLoS One, https://doi.org/10.1371/journal.pone.0116724 Abstract
Oguchi, T. et al. (2015) Investigation of Susceptibility Genes Triggering Lachrymal/Salivary Gland Lesion Complications in Japanese Patients with Type 1 Autoimmune Pancreatitis PLoS One, https://doi.org/10.1371/journal.pone.0127078 Abstract
Yang, Y. et al. (2015) Association Study of N-Methyl-D-Aspartate Receptor Subunit 2B (GRIN2B) Polymorphisms and Schizophrenia Symptoms in the Han Chinese Population PLoS One, https://doi.org/10.1371/journal.pone.0125925 Abstract
Utsunomiya, Y. et al. (2015) Genome-Wide Scan for Visceral Leishmaniasis in Mixed-Breed Dogs Identifies Candidate Genes Involved in T Helper Cells and Macrophage Signaling PLoS Genetics, https://doi.org/10.1371/journal.pone.0136749 Abstract
Stern, J. et al. (2015) Severity of Mitral Valve Degeneration Is Associated with Chromosome 15 Loci in Whippet Dogs PLoS Genetics, https://doi.org/10.1371/journal.pone.0141234 Abstract
Bartolome, N. et al. (2015) A Genetic Predictive Model for Canine Hip Dysplasia: Integration of Genome Wide Association Study (GWAS) and Candidate Gene Approaches PLoS Genetics, https://doi.org/10.1371/journal.pone.0122558 Abstract
Thompson, P. et al. (2015) ENIGMA and the individual: Predicting factors that affect the brain in 35 countries worldwide. Neurolmage, http://dx.doi.org/10.1016/j.neuroimage.2015.11.057 Abstract
Elkadri, A. et al. (2015) Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia. CMGH, http://dx.doi.org/10.1016/j.jcmgh.2015.05.001 Abstract
Pussegoda, K. et al. (2015) Replication of TPMT and ABCC3 genetic variants highly associated with cisplatin-induced hearing loss in children. Clinical Pharmacology & Therapeutics, doi: 10.1038/clpt.2013.80. Abstract
Bailey, D. et al. (2015) Genetic Influences on Cattle Grazing Distribution: Association of Genetic Markers with Terrain Use in Cattle. Elsevier, doi: 10.1016/j.rama.2015.02.001 Abstract
Clemente-Vicario, F. et al. (2015) Human Genetic Relevance and Potent Antitumor Activity of Heat Shock Protein 90 Inhibition in Canine Lung Adenocarcinoma Cell Lines. PLOS one, doi: 10.1371/journal.pone.0142007 Abstract
Moravc?kov?, N. et al. (2015) Estimation of genomic variation in cervids using cross-species application of SNP arrays. Poljoprivreda/Agriculture, doi: 10.18047/poljo.21.1.sup.6 Abstract
Dolezal, M. et al. (2015) GWAS on Imputed high density SNP genotypes on the Italian and Swiss Brown dairy cattle population for milk somatic cell count. Abstract
Velez, J. et al. (2015) A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease. Hindawi Publishing Corporation, Article ID 694726 Abstract
Hardiman, K. et al. (2015) Intra-tumor genetic heterogeneity in rectal cancer. Laboratory Investigation, doi: 10.1038/labinvest.2015.131 Abstract
Guo, T. et al. (2015) Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. AJHG, doi: 10.1016/j.ajhg.2015.10.013 Abstract
Kanemaki, N. et al. (2015) Study of association of PAX6 polymorphisms with susceptibility to high myopia in a Japanese population. Clin Ophthalmol, doi: 10.2147/OPTH.S95167 Abstract
Mastronardi, AC. et al. (2015) Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate. Epilepsy and Behavior, doi: 10.1038/mp.2015.172 Abstract
Makina, S. et al. (2015) Genome-wide scan for selection signatures in six cattle breeds in South Africa. Genetics Selection Evolution, doi: 10.1186/s12711-015-0173-x Abstract
Babushok, D. et al. (2015) Disrupted lymphocyte homeostasis in hepatitis-associated acquired aplastic anemia is associated with short telomeres. American Journal of Hematology, doi: 10.1002/ajh.24256 Abstract
Velez, J. et al. (2015) APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer's disease. Molecular Psychiatry, doi: 10.1038/mp.2015.177 Abstract
Thun, E. et al. (2015) Circadian clock gene variants and insomnia, sleepiness, and shift work disordery. Sleep and Biological Rhythms, doi: 10.?1007/?s41105-015-0023-9 Abstract
Cotteni, E. et al. (2015) Genetic and Functional Investigation of Inherited Neuropathies. MRC Centre for Neuromuscular Diseases Abstract
Powers, N. et al. (2015) The regulatory element READ1 epistatically influences reading and language, with both deleterious and protective alleles. Journal of Medical Genetics, doi: 10.1136/jmedgenet-2015-103418 Abstract
McCrow, J. et al. (2015) Spectrum of mitochondrial genomic variation and associated clinical presentation of prostate cancer in South African men. The Prostate, doi: 10.1002/pros.23126 Abstract
Sapkota, B. et al. (2015) Genome-wide Association Study of 25(OH) Vitamin D Concentrations in Punjabi Sikhs: Results of the Asian Indian Diabetic Heart Study. The Journal of Steroid Biochemistry and Molecular Biology, doi: 10.1016/j.jsbmb.2015.12.014 Abstract
Warburton, A. et al. (2015) NRSF and BDNF polymorphisms as biomarkers of cognitive dysfunction in adults with newly diagnosed epilepsy. Epilepsy and Behavior, doi: http://dx.doi.org/10.1016/j.yebeh.2015.11.013 Abstract
Liu, S. et al. (2015) High-density interspecific genetic linkage mapping provides insights into genomic incompatibility between channel catfish and blue catfish. Animal Genetics, doi: 10.1111/age.12372 Abstract
Ho, Y. et al. (2015) Effects of obesity on the association between common variations in the TBX5 gene and matrix metalloproteinase 9 levels in Taiwanese. Tzu Chi Medical Journal, doi: 10.1016/j.tcmj.2015.09.005 Abstract
Kim, L. et al. (2015) Genome-wide association study with the risk of schizophrenia in a Korean population. American Journal of Medical Genetics, doi: 10.1002/ajmg.b.32400 Abstract
Lee, K. et al. (2015) Circadian regulation gene polymorphisms are associated with sleep disruption and duration, and circadian phase and rhythm in adults with HIV. The Journal of Biological and Medical Rhythm Research, doi: 10.3109/07420528.2015.1087021 Abstract
Hakansson, A. et al. (2015) Association between polymorphisms in NOS3 and KCNH2 and social memory. Frontiers in Neuroscience, doi: 10.3389/fnins.2015.00393 Abstract
Velez, J. et al. (2015) A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease. Neural Plasticity, doi: 10.1186/s13054-015-1084-5 Abstract
Bhatraju, P. et al. (2015) Associations between single nucleotide polymorphisms in the FAS pathway and acute kidney injury. Critical Care, doi: 10.1186/s13054-015-1084-5 Abstract
Remmers, E. et al. (2015) Identification of ERAP1 protein allotypes in the Turkish population and evaluation of their contributions to Beh?et's disease risk. Pediatr Rheumatol Online Journal, doi: 10.1186/1546-0096-13-S1-P14 Abstract
Ernst, A. et al. (2015) The PHF6 Mutation c.1A>G; pM1V Causes B?rjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys. Molecular Syndromology, doi: 10.1159/000441047 Abstract
Namjou, B. et al. (2015) A GWAS Study on Liver Function Test Using eMERGE Network Participants. PLOS One, doi: 10.1371/journal.pone.0138677 Abstract
Walker, L. et al. (2015) The Role of Constitutional Copy Number Variants in Breast Cancer. Microarrays, doi: 10.3390/microarrays4030407 Abstract
Popp, N. et al. (2015) Functional single nucleotide polymorphism in IL-17A 3' untranslated region is targeted by miR-4480 in vitro and may be associated with age-related macular degeneration. Environmental and Molecular Mutagenesis, doi: 10.1002/em.21982 Abstract
Jones, M. et al. (2015) Systems Genetics Reveals the Functional Context of PCOS Loci and Identifies Genetic and Molecular Mechanisms of Disease Heterogeneity. PLOS Genetics, doi: 10.1371/journal.pgen.1005455 Abstract
Sokol, J. et al. (2015) Genetic variations of the GP6 regulatory region in patients with sticky platelet syndrome and miscarriage. Expert Review of Hematology, doi: 10.1586/17474086.2015.1083417 Abstract
Srikanth, P. et al. (2015) Genomic DISC1 Disruption in hiPSCs Alters Wnt Signaling and Neural Cell Fate. Cell Reports, doi: 10.1016/j.celrep.2015.07.061 Abstract
Ji, X. et al. (2015) The Role of Haplotype in 15q25.1 Locus in Lung Cancer Risk: Results of Scanning chromosome 15. Oxford Journals, doi: 10.1093/carcin/bgv118 Abstract
Gyu Eun, Y. et al. (2015) Abstract 5280: A polymorphism of VEGFA is associated with susceptibility to extrathyroidal invasion of papillary thyroid cancer. The Journal of Cancer Research, doi: 10.1158/1538-7445.AM2015-5280 Abstract
Simpfendorfer, K. et al. (2015) Autoimmune disease associated haplotypes of BLK exhibit lowered thresholds for B-cell activation and expansion of immunoglobulin class switched B-cells. Arthritis & Rheumatology, doi: 10.1002/art.39301 Abstract
Zheng, W. et al. (2015) Knowledge-based analysis of genetic associations of rheumatoid arthritis to inform studies searching for pleiotropic genes: a literature review and network analysis. Arthritis Research & Therapy, doi: 10.1186/s13075-015-0715-1 Abstract
Kartashov, A. et al. (2015) BioWardrobe: an integrated platform for analysis of epigenomics and transcriptomics data Genome Biology, doi: 10.1186/s13059-015-0720-3 Abstract
Wang, L. et al. (2015) Copy number variation-based genome wide association study reveals additional variants contributing to meat quality in Swine. Scientific Reports, doi: 10.1038/srep12535 Abstract
Aminkeng, F. et al. (2015) A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer. Nature Genetics, doi: 10.1038/ng.3374 Abstract
Gan-or, Z. et al. (2015) The Alzheimer disease BIN1 locus as a modifier of GBA -associated Parkinson disease. Journal of Neurology, doi: 10.1007/s00415-015-7868-3 Abstract
Visscher, H. et al. (2015) Genetic variants in SLC22A17 and SLC22A7 are associated with anthracycline-induced cardiotoxicity in children. Pharmacogenomics, doi: 10.2217/pgs.15.61 Abstract
Oussalah, A. et al. (2015) Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects: A Strobe Compliant Article. Medicine (Baltimore), doi: 10.1097/MD.0000000000000925 Abstract
Favaretti, C. et al. (2015) AN EFQM excellence model for integrated healthcare governance. International Journal of Health Care Quality Assurance, doi: 10.1108/IJHCQA-02-2014-0022 Abstract
Umman, B. et al. (2015) Identification of gene variants related to the nitric oxide pathway in patients with acute coronary syndrome. Gene, doi: 10.1016/j.gene.2015.07.081 Abstract
Oliveira, G. et al. (2015) Breeding and Genetics: Genomic methods and application?Dairy W87 A GWAS on heat tolerance phenotypes for Italian Holstein bulls. Journal of Animal Science, doi: 10.5219/478 Abstract
Kasarda, R. et al. (2015) Genome-Wide Selection Signatures in Pinzgau Cattle. Potravinarstvo Scienfic Journal for Food Industry, doi: 10.5219/478 Abstract
Hart, S. et al. (2015) VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files. Oxford Journals, doi: 10.1093/bib/bbv051 Abstract
Cronin, M. et al. (2015) Single Nucleotide Polymorphism (SNP) Variation of Wolves (Canis lupus) in Southeast Alaska and Comparison with Wolves, Dogs, and Coyotes in North America. Journal of Heredity, doi: 10.1093/jhered/esu075 Abstract
Laer, K. et al. (2015) Polymorphisms in genes of respiratory control and sudden infant death syndrome. International Journal of Legal Medicine, doi: 10.1007/s00414-015-1232-0 Abstract
Mackay, D. et al. (2015) Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma. PlOS one, doi: 10.1371/journal.pone.0132529 Abstract
Hildebrant, M. et al. (2015) Genetic variation in the TNF/TRAF2/ASK1/p38 kinase signaling pathway as markers for postoperative pulmonary complications in lung cancer patients. Scientific Reports., doi: 10.1038/srep12068 Abstract
Ferrarini, A. et al. (2015) The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data. PlOS one., doi: 10.1371/journal.pone.0132180 Abstract
Deml, B. et al. (2015) Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. European Journal of Human Genetics, doi: 10.1038/ejhg.2015.155 Abstract
Mackey, J. et al. (2015) Genetics of ramucirumab-associated hypertension in the ROSE/TRIO-012 breast cancer trial. Journal of Clinical Oncology, doi: 10.1001/jco.23246 Abstract
Deml, B. et al. (2015) EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. Clinical and Molecular Teratology, doi: 10.1002/bdra.23397 Abstract
Rajeevan, M. et al. (2015) Pathway-focused genetic evaluation of immune and inflammation related genes with chronic fatigue syndrome. Human Immunology, doi: 10.1016/j.humimm.2015.06.014 Abstract
Nanayahkkara, S. et al. (2015) Whole-exome sequencing reveals genetic variants associated with chronic kidney disease characterized by tubulointerstitial damages in North Central Region, Sri Lanka. Environmental Helath and Preventative Medicine, doi: 10.1007/s12199-015-0475-1 Abstract
Sarkar, M, et al. (2015) Association of IFNL3 and IFNL4 polymorphisms with liver-related mortality in a multiracial cohort of HIV/HCV-coinfected women. Journal of Viral Hepatitis, doi: 10.1111/jvh.12431 Abstract
Geng, X, et al. (2015) A genome-wide association study in catfish reveals the presence of functional hubs of related genes within QTLs for columnaris disease resistance. BMC Genomics, doi: 10.1186/s12864-015-1409-4 Abstract
Nair, S, et al. (2015) Fine mapping of Msv1 , a major QTL for resistance to Maize Streak Virus leads to development of production markers for breeding pipelines. Theoretical and Applied Genetics, doi: 10.1007/s00122-015-2551-8 Abstract
Squassina, A, et al. (2015) An Introduction to Pharmacogenomics and Personalized Medicine. PanVascular Medicine, doi: 10.1007/978-3-642-37078-6_226 Abstract
Ferrari, R, et al. (2015) A Genome-Wide Screening and SNPs-to-Genes Approach to Identify Novel Genetic Risk Factors Associated with Frontotemporal Dementia. Neurobiology of Aging, doi: http://dx.doi.org/10.1016/j.neurobiolaging.2015.06.005 Abstract
Esplin, M, et al. (2015) Cluster analysis of spontaneous preterm birth phenotypes identifies potential associations among preterm birth mechanisms. AJOG, doi: http://dx.doi.org/10.1016/j.ajog.2015.06.011 Abstract
Edea, Z, et al. (2015) Genome-wide linkage disequilibrium analysis of indigenous cattle breeds of Ethiopia and Korea using different SNP genotyping BeadChips. Genes and Genomics, doi: 10.1007/s13258-015-0304-3 Abstract
Oussalah, A, et al. (2015) Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects: A Strobe Compliant Article. Medicine, doi: 10.1097/MD.0000000000000925 Abstract
Lauren, M, et al. (2015) Genomics in the clinic: ethical and policy challenges in clinical next-generation sequencing programs at early adopter USA institutions. Personalized Medicine, doi: 10.2217/pme.14.88 Abstract
Dashti, H, et al. (2015)Clock Genes Explain a Large Proportion of Phenotypic Variance in Systolic Blood Pressure and This Control Is Not Modified by Environmental Temperature. Oxford Journals, doi: 10.1093/ajh/hpv082 Abstract
Schilter, K, et al. (2015) Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype. Molecular Genetics and Genomic Medicine, doi: 10.1002/mgg3.159 Abstract
Aouizerat , B, et al. (2015) Phenotypic and Molecular Evidence Suggest That Decrements in Morning and Evening Energy Are Distinct But Related Symptoms. Journal of Pain and Symptom Management, doi: http://dx.doi.org/10.1016/j.jpainsymman.2015.05.008 Abstract
Davis, B, et al. (2015) Mechanisms underlying mammalian hybrid sterility in two feline interspecies models. Oxford Journals, doi: 10.1093/molbev/msv124 Abstract
Costa, A, et al. (2015) Gene-environment interaction between the oxytocin receptor (OXTR) gene and parenting behaviour on children's theory of mind. Veterinary Pharmacology and Therapeutics, doi: 10.1111/jvp.12241 Abstract
Wade, M, et al. (2015) Polymorphisms in the canine glucocorticoid receptor alpha gene (NR3C1a). Oxford Journals, doi: 10.1093/scan/nsv064 Abstract
Bessonov, K, et al. (2015) A cautionary note on the impact of protocol changes for genome-wide association SNP ? SNP interaction studies: an example on ankylosing spondylitis. Human Genetics, doi: 10.1007/s00439-015-1560-7 Abstract
Mezaros, G, et al. (2015) Genomic analysis for managing small and endangered populations: A case study in Tyrol Grey cattle. Frontiers in Genetics, doi: 10.3389/fgene.2015.00173 Abstract
Cybulski, C, et al. (2015) Germline RECQL mutations are associated with breast cancer susceptibility. Nature Genetics, doi: 10.1038/ng.3284 Abstract
Fatemi, C, et al. (2015) Early onset schizophrenia: Gender analysis of genome-wide potential methylation. Clinica Chimica Acta, doi: 10.1016/j.cca.2015.03.032 Abstract
Eun, Y, et al. (2015) Single nucleotide polymorphisms of the Fas gene are associated with papillary thyroid cancer. Auris Nasus Larynx, doi: 10.1016/j.anl.2015.02.001 Abstract
Dubey, S, et al. (2015) Evaluation of Genetic Polymorphisms in Clusterin and Tumor Necrosis Factor-Alpha Genes in South Indian Individuals with Pseudoexfoliation Syndrome. Current Eye Research, doi: 10.3109/02713683.2014.997884 Abstract
Pereira, R, et al. (2015) Mutation analysis in patients with total sperm immotility. JARG, doi: 10.1007/s10815-015-0474-6 Abstract
Xia, S, et al. (2015) Plasma genetic and genomic abnormalities predict treatment response and clinical outcome in advanced prostate cancer. Oncotarget, doi: 10.1111/age.12295 Abstract
Nicolazzi, E, et al. (2015) Software solutions for the livestock genomics SNP array revolution. Animal Genetics, doi: 10.1111/age.12295 Abstract
Reddy, U, et al. (2015) High-Resolution Genetic Map for Understanding the Effect of Genome-Wide Recombination Rate on Nucleotide Diversity in Watermelon. G3, doi: 10.1534/g3.114.012815 Abstract
Weaver, K, et al. (2015) Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. AJHG, doi: 10.1016/j.ajhg.2015.03.011 Abstract
Veerappa, A, et al. (2015) Global Spectrum of Copy Number Variations Reveals Genome Organizational Plasticity and Proposes New Migration Routes. PLOSone, doi: 10.1371/journal.pone.0121846 Abstract
Marsh, S, et al. (2015) Pharmacogenomic assessment of Mexican and Peruvian populations. Pharmacogenomics, doi: 10.2217/pgs.15.10 Abstract
Bonman, M, et al. (2015) Genetic Diversity among Wheat Accessions from the USDA National Small Grains Collection. Crop Science, doi: 10.2135/cropsci2014.09.0621 Abstract
Mucha, S, et al. (2015) Genome-wide association study of footrot in Texel sheep. Genetics Selection Evolution, doi: 10.1186/s12711-015-0119-3 Abstract
Al-Motassem, Y, et al. (2015) Allele and Genotype Frequencies of the Polymorphic Methylenetetrahydrofolate Reductase and Lung Cancer in the Jordanian Population: a Case Control Study. Asian Pacific Journal of Cancer Prevention, doi: 10.7314/APJCP.2015.16.8.3101
Ference, B, et al. (2015) Effect of Naturally Random Allocation to Lower Low-Density Lipoprotein Cholesterol on the Risk of Coronary Heart Disease Mediated by Polymorphisms in NPC1L1, HMGCR, or Both. Journal of the American College of Cardiology, doi: 10.1016/j.jacc.2015.02.020 Abstract
Gordon, C, et al. (2015) Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia. The American Journal of Human Genetics, doi: 10.1016/j.ajhg.2015.01.015 Abstract
Saal, H, et al. (2015) A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. Oxford Journals, doi: 10.1093/hmg/ddv088 Abstract
Cierny, D, et al. (2015) Genetic variants in interleukin 7 receptor a chain (IL-7Ra) are associated with multiple sclerosis risk and disability progression in Central European Slovak population. Journal of Neuroimmunology, doi: http://dx.doi.org/10.1016/j.jneuroim.2015.03.010 Abstract
Duan, D, et al. (2015) Associations between TRPV4 genotypes and body mass index in Taiwanese subjects. Molecular Genetics and Genomics, doi: 10.1007/s00438-015-0996-8 Abstract
Babushok, D, et al. (2015) Emergence of Clonal Hematopoiesis in the Majority of Patients with Acquired Aplastic Anemia. Cancer Genetics Journal, doi: http://dx.doi.org/10.1016/j.cancergen.2015.01.007 Abstract
Solus, J, et al. (2015) Genetics of serum concentration of IL-6 and TNFa in systemic lupus erythematosus and rheumatoid arthritis: a candidate gene analysis. Clinical Rheumatology, doi: 10.1007/s10067-015-2881-6 Abstract
Kanwal, F et al. (2015) Genetic Variants in Interleuking-28B Are Associated with Diabetes and Diabetes-Related complications in Patients with Chronic Hepatitis C Virus Infection. Digestive Diseases and Sciences, doi: 10.1007/s10126-015-3545-8 Abstract
Ulloa, P et al. (2015) RNA Sequencing to Study Gene Expression and SNP Variations Associated with Growth in Zebrafish Fed a Plant Protein-Based Diet. Marine Biotechnology, doi: 10.1007/s10126-015-9624-1 Abstract
Thareja, G et al. (2015) Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry. BMC Genomics, doi: 10.1186/s12864-015-1233-x Abstract
Dohrn, N et al. (2015) ECEL1 mutation causes fetal arthrogryposis multiplex congenita. American Journal of Medical Genetics, doi: 10.1002/ajmg.a.37018 Abstract
Chang, H et al. (2015) Development of a genetic marker set to diagnose aspirin-exacerbated respiratory disease in a genome-wide association study. The Pharmacogenomics Journal, doi: 10.1038/tpj.2014.78 Abstract
Suwarno, W et al. (2015) Genome-wide association analysis reveals new targets for carotenoid biofortification in maize. Theoretical and Applied Genetics, doi: 10.1007/s00122-015-2475-3 Abstract
Bulayeva, K et al. (2015) Genomic structural variants are linked with intellectual disability. Journal of Neural Transmission, doi: 10.1007/s00702-015-1366-8 Abstract
Chiang, D et al. (2015) Identification of microRNA-mRNA dysregulations in paroxysmal atrial fibrillation. International Journal of Cardiology, doi: http://dx.doi.org/10.1016/j.ijcard.2015.01.075 Abstract
Mitropoulou, C et al. (2015) Economic evaluation of pharmacogenomic-guided warfarin treatment for elderly Croatian atrial fibrillation patients with ischemic stroke. Pharmacogenomics, Vol. 16, No. 2, Pages 137-148 , DOI 10.2217/pgs.14.167 Abstract
Sant, D et al. (2015) Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1. Journal of Medical Genetics, doi:10.1136/jmedgenet-2014-102815 Abstract
Durson, D et al. (2015) Association of Genetic Variants with Self-Assessed Color Categories in Brazilians. PLOSone, 9(1): e83926. doi:10.1371/journal.pone.0083926 Abstract
O'Rawe, J et al. (2015) A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features. bioRxiv, doi: http://dx.doi.org/10.1101/014050 Abstract
Edea, Z et al. (2015) Genome-wide genetic diversity, population structure and admixture analysis in African and Asian cattle breeds. Animal, 9:2, pp 218?226, doi:10.1017/S1751731114002560. Abstract
van der Laan, S et al. (2015) Variants in ALOX5, ALOX5AP and LTA4H are not associated with atherosclerotic plaque phenotypes: The Athero-Express Genomics Study. Atherosclerosis, doi:10.1016/j.atherosclerosis.2015.01.018. Abstract
Sadhasivam, S et al. (2015) Novel associations between FAAH genetic variants and postoperative central opioid-related adverse effects. The Pharmacogenetics Journal, doi:10.1038/tpj.2014.79. Abstract
Mangone, F et al. (2015) ATM gene mutations in sporadic breast cancer patients from Brazil. SpringerPlus, doi:10.1186/s40064-015-0787-z. Abstract
Merdad, A et al. (2015) Characterization of familial breast cancer in Saudi Arabia. BMC Genomics, 16(Suppl 1):S3, doi:10.1186/1471-2164-16-S1-S3. Abstract
Zhang, L et al. (2015) Exome Sequencing of Normal and Isogenic Transformed Human Colonic Epithelial Cells (HCECs) Reveals Novel Genes Potentially Involved in the Early Stages of Colorectal Tumorigenesis. BMC Genomics, 16(Suppl 1):S8, doi:10.1186/1471-2164-16-S1-S8. Abstract
Li, J et al. (2015) Evaluation of 12 myopia-associated genes in Chinese patients with high myopia. Investigative Ophthalmology & Visual Science, doi:10.1167/iovs.14-14880. Abstract
Blanco, F et al. (2015) Improved prediction of knee osteoarthritis progression by genetic polymorphisms: the Arthrotest Study. Rheumatology, doi:10.1093/rheumatology/keu478. Abstract

2014 Publications

Sanchez-Dominguez, C et al. (2014) The Tumor Necrosis Factor α (-308 A/G) Polymorphism Is Associated with Cystic Fibrosis in Mexican Patients PLoS One, doi: https://doi.org/10.1371/journal.pone.0090945 Abstract
Shortt, K et al. (2014) Identification of Novel Single Nucleotide Polymorphisms Associated with Acute Respiratory Distress Syndrome by Exome-Seq PLoS One, doi: https://doi.org/10.1371/journal.pone.0111953 Abstract
Medina-Martinez, I et al. (2014) Impact of Gene Dosage on Gene Expression, Biological Processes and Survival in Cervical Cancer: A Genome-Wide Follow-Up Study PLoS One, doi: https://doi.org/10.1371/journal.pone.0097842 Abstract
Alsmadi, O et al. (2014) Genome at Juncture of Early Human Migration: A Systematic Analysis of Two Whole Genomes and Thirteen Exomes from Kuwaiti Population Subgroup of Inferred Saudi Arabian Tribe Ancestry PLoS One, doi: https://doi.org/10.1371/journal.pone.0099069 Abstract
Thompson, P et al. (2014) Differences in Meiotic Recombination Rates in Childhood Acute Lymphoblastic Leukemia at an MHC Class II Hotspot Close to Disease Associated Haplotypes PLoS One, doi: https://doi.org/10.1371/journal.pone.0100480 Abstract
Kim, J et al. (2014) A Genome-Wide Association Study Identifies Potential Susceptibility Loci for Hirschsprung Disease PLoS One, doi: https://doi.org/10.1371/journal.pone.0110292 Abstract
Raman, H A et al. (2014) Genome-Wide Delineation of Natural Variation for Pod Shatter Resistance in Brassica napus PLoS One, doi: https://doi.org/10.1371/journal.pone.0101673 Abstract
Tejedor, T, A et al. (2014) The Apolipoprotein E Polymorphism rs7412 Associates with Body Fatness Independently of Plasma Lipids in Middle Aged Men PLoS One, doi: https://doi.org/10.1371/journal.pone.0108605 Abstract
Wang, K, A et al. (2014) Prostate Cancer Related JAZF1 Gene is Associated with Schizophrenia. Journal of Schizophrenia Research, doi: 10.1002/pros.21094. Abstract
Namjou, B, A et al. (2014) The Effect of Inversion at 8p23 on BLK Association with Lupus in Caucasian Population. PLOS One, doi: 10.1371/journal.pone.0115614. Abstract
Edea, Z, A et al. (2014) Linkage disequilibrium and genomic scan to detect selective loci in cattle populations adapted to different ecological conditions in Ethiopia. Journal of Animal Breeding and Genetics, doi: 10.1111/jbg.12083. Abstract
Uzzaman, MR, A et al. (2014) Genome-wide Single Nucleotide Polymorphism Analyses Reveal Genetic Diversity and Structure of Wild and Domestic Cattle in Bangladesh. Asian-Australas J Animal Science, doi: 10.5713/ajas.2014.14160. Abstract
Langford, D, A et al. (2014) Variations In Potassium Channel Genes Are Associated With Distinct Trajectories Of Persistent Breast Pain Following Breast Cancer Surgery. PAIN, doi: 10.1016/j.pain.0000000000000043. Abstract
Agopian, A et al. (2014) Genome-Wide Association Study of Maternal and Inherited Loci for Conotruncal Heart Defects. PLoS ONE, 9(5), doi:10.1371/journal.pone.0096057. Abstract
Chantratita, N et al. (2014) Common TLR1 Genetic Variation Is Not Associated with Death from Melioidosis, a Common Cause of Sepsis in Rural Thailand. PLoS ONE, 9(1):e83285, doi:10.1371/journal.pone.0083285. Abstract
Chen, C et al. (2014) Meta-analysis of Loci Associated with Age at Natural Menopause in African-American Women. Human Molecular Genetics, doi:10.1093/hmg/ddu041. Abstract
Chon, J et al. (2014) Association between BH3 interacting domain death agonist (BID) gene polymorphism and ossification of the posterior longitudinal ligament in Korean population. Molecular Biology Reports, 41(2):895-899, doi:10.1007/s11033-013-2933-4. Abstract
Chu, X et al. (2014) In-depth analyses unveil the association and possible functional involvement of novel RAD51B polymorphisms in age-related macular degeneration. AGE, doi:10.1007/s11357-014-9627-2. Abstract
Cronin, M et al. (2014) Molecular Phylogeny and SNP Variation of Polar Bears (Ursus maritimus), Brown Bears (U. arctos), and Black Bears (U. americanus) Derived from Genome Sequences. Journal of Heredity, 105(1): doi:10.1093/jhered/est133. Abstract
Deml, B et al. (2014) Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. Clinical Genetics, doi:10.1111/cge.12379. Abstract
Dubey, S et al. (2014) Lysyl Oxidase-Like 1 Gene in the Reversal of Promoter Risk Allele in Pseudoexfoliation Syndrome. JAMA Ophthalmol, doi:10.1001/jamaophthalmol.2014.845. Abstract
Durso, D et al. (2014) Association of Genetic Variants with Self-Assessed Color Categories in Brazilians. PLoS ONE, 9(1):e83926: doi:10.1371/journal.pone.0083926. Abstract
Edea, Z et al. (2014) Linkage disequilibrium and genomic scan to detect selective loci in cattle populations adapted to different ecological conditions in Ethiopia. Journal of Animal Breeding and Genetics, doi:10.1111/jbg.12083. Abstract
Gupta, A et al. (2014) Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Molecular Autism, 5(31), doi:10.1186/2040-2392-5-31. Abstract
Kim, D et al. (2014) The Insertion/Deletion Polymorphism of Angiotensis I Converting Enzyme Gene is Associated with Ossification of the Posterior Longitudinal Ligament in the Korean Population. Annals of Rehabilitation Medicine, 38(1):1-5, doi:10.5535/arm.2014.31.1.1 Abstract
Kim, S et al. (2014) Association Study of FOS-Like Antigen-2 Promoter Polymorphisms With Papillary Thyroid Cancer in Korean Population. Clinical and Experimental Otorhinolaryngology, 7(1):42-46: doi:10.3342/ceo.2014.7.1.42. Abstract
Kimura, T et al. (2014) Autophagy-Related IRGM Polymorphism Is Associated with Mortality of Patients with Severe Sepsis. PLoS ONE, doi:10.1371/journal.pone.0091522 Abstract
Klajic-Bukvic, B et al. (2014) Genetic variants in endotoxin signalling pathway, domestic endotoxin exposure and asthma exacerbations. Pediatric Allergy and Immunology, doi:10.1111/pai.12258. Abstract
Kohlhase, S et al. (2014) Mutation Analysis of the ERCC4/FANCQ Gene in Hereditary Breast Cancer. PLoS ONE, 9(1):e85334: doi:10.1371/journal.pone.0085334. Abstract
Lee, K et al. (2014) Cytokine polymorphisms are associated with fatigue in adults living with HIV/AIDS. Brain, Behavior, and Immunity, doi:10.1016/j.bbi.2014.02.017. Abstract
Luksys, G et al. (2014) BAIAP2 Is Related to Emotional Modulation of Human Memory Strength. PLoS ONE, 9(1):e83707, doi:10.1371/journal.pone.0083707. Abstract
Mayes, M et al. (2014) Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis. American Journal of Human Genetics, 94(1):47-61, doi:10.1016/j. Abstract
Mucha, S et al. (2014) Estimation of genetic parameters for milk yield across lactations in mixed-breed dairy goats. Journal of Dairy Science, doi:10.3168/jds.2013-7319. Abstract
Najafi, M et al. (2014) Matrix Gla protein (MGP) promoter polymorphic variants and its serum level in stenosis of coronary artery. Molecular Biology Reports, 41(3):1779-1786, doi:10.1007/s11033-014-3027-7. Abstract
Park, T et al. (2014) Genome-wide association study identifies ALLC polymorphisms correlated with FEV1 change by corticosteroid. Clinica Chimica Acta,436:20-26, doi:10.1016/j.cca.2014.04.023. Abstract
Pibiri, F et al. (2014) Genetic variation in vitamin D-related genes and risk of colorectal cancer in African-Americans. Cancer Causes & Control, doi:10.1007/s10552-014-0361-y. Abstract
Saad, S et al. (2014) Cytokine gene variations associated with subsyndromal depressive symptoms in patients with breast cancer. European Journal of Oncology Nursing. doi:10.1016/j.ejon.2014.03.009. Abstract
Sanchez-Dominguez, C et al. (2014) The Tumor Necrosis Factor a (-308 A/G) Polymorphism Is Associated with Cystic Fibrosis in Mexican Patients. PLoS ONE, 9(3):e90945: doi:10.1371/journal.pone.0090945. Abstract
Shaw, K et al. (2014) VKORC1 and CYP2C9 genotypes are predictors of warfarin-related outcomes in children. Pediatric Blood & Cancer, doi:10.1002/pbc.24932. Abstract
Shortt, K et al. (2014) Three Novel Single Nucleotide Polymorphisms Associated with the Susceptibility, Severity, and Outcome of Acute Respiratory Distress Syndrome. Respiratory and Critical Care Medicine, doi:10.1164/ajrccm-conference.2014.189.1. Abstract
Taylor, K et al. (2014) Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma. Nature Genetics, doi:10.1038/ng.2925. Abstract
Tindall, E et al. (2014) Clinical presentation of prostate cancer in Black South Africans. The Prostate, doi:10.1002/pros.22806. Abstract
Veerappa, A et al. (2014) Copy Number Variations Burden on miRNA Genes Reveals Layers of Complexities Involved in the Regulation of Pathways and Phenotypic Expression. PLoS ONE, 9(2):e90391: doi:10.1371/journal.pone.0090391. Abstract
Yang, S et al. (2014) A genome-wide scan for signatures of selection in Chinese indigenous and commercial pig breeds. BMC Genetics, doi:10.1186/1471-2156-15-7. Abstract

2013 Publications

Zhang, L et al. (2013) cgaTOH: Extended Approach for Identifying Tracts of Homozygosity PLoS ONE, https://doi.org/10.1371/journal.pone.0057772. Abstract
Acevedo, N et al. (2013) Interaction between Retinoid Acid Receptor-Related Orphan Receptor Alpha (RORA) and Neuropeptide S Receptor 1 (NPSR1) in Asthma. PLoS ONE, 8(4):e60111, doi:10.1371/journal.pone.0060111. Abstract
Agopian, A et al. (2013) Exon sequencing of PAX3 and T (Brachyury) in cases with spina bifida. Birth Defects Research Part A: Clinical and Molecular Teratology, doi:10.1002/bdra.23163. Abstract
Akbari, M et al. (2013) PPM1D Mutations in Circulating White Blood Cells and the Risk for Ovarian Cancer. Journal of the National Cancer Institute, doi:10.1093/jnci/djt323. Abstract
Alfaro, E et al. (2013) Associations between cytokine gene variations and self-reported sleep disturbance in women following breast cancer surgery. European Journal of Oncology Nursing, doi:10.1016/j.ejon.2013.08.004. Abstract
Alcazar-Gonzalez, G et al. (2013) Comparative study of polymorphism frequencies of the CYP2D6, CYP3A5, CYP2C8 and IL-10 genes in Mexican and Spanish women with breast cancer. Pharmacogenomics, 14(13):1583-1592, doi:10.2217/pgs.13.83. Abstract
Alsmadi, O et al. (2013) Genetic Substructure of Kuwaiti Population Reveals Migration History. PLoS ONE, 8(9):e74913, doi:10.1371/journal.pone.0074913. Abstract
Aminkeng, F et al. (2013) Higher frequency of genetic variants conferring increased risk for ADRs for commonly used drugs treating cancer, AIDS and tuberculosis in persons of African descent. Pharmacogenomics Journal, doi:10.1038/tpj.2013.13. Abstract
Aquilante, C et al. (2013) Effect of ABCB1 polymorphisms and atorvastatin on sitagliptin pharmacokinetics in healthy volunteers. European Journal of Clinical Pharmocolgy, doi:10.1007/s00228-013-1475-y. Abstract
Aragam, N et al. (2013) TMPRSS9 and GRIN2B Are Associated with Neuroticism: a Genome-Wide Association Study in a European Sample. Journal of Molecular Neuroscience, 50(2):250-256, doi:10.1007/s12031-012-9931-1. Abstract
Ardeljan, D et al. (2013) Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration. European Journal of Human Genetics, doi:10.1038/ejhg.2013.14. Abstract
Arrington, C et al. (2013) Family-based studies to identify genetic variants that cause congenital heart defects. Future Medicine, 9(4):507-518, doi:10.2217/fca.13.40. Abstract
Azad, A et al. (2013) Allelic mRNA expression imbalance in C-type lectins reveals a frequent regulatory SNP in the human surfactant protein A (SP-A) gene. Genes and Immunity, doi:10.1038/gene.2012.61. Abstract
Ban, J et al. (2013) Association of forkhead box J3 (FOXJ3) polymorphisms with rheumatoid arthritis. Molecular Medicine, doi:10.3892/mmr.2013.1623. Abstract
Bani-Fatemi, A et al. (2013) Analysis of CpG SNPs in 34 genes: Association test with suicide attempt in schizophrenia. Schizophrenia Research, doi:10.1016/j.schres.2013.04.018. Abstract
Belfer, I et al. (2013) A GCH1 Haplotype Confers Sex Specific Susceptibility to Pain Crises and Altered Endothelial Function in Adults with Sickle Cell Anemia. American Journal of Hematology, doi:0.1002/ajh.23613. Abstract
Bergstrom, P et al. (2013) Association of NFE2L2 and KEAP1 haplotypes with amyotrophic lateral sclerosis. Informa Healthcare, doi: 10.3109/21678421.2013.839708. Abstract
Blekic, M et al. (2013) 17q12-21 and asthma: interactions with early-life environmental exposures. Annals of Allergy, Asthma & Immunology, doi:10.1016/j.anai.2013.01.021. Abstract
Br?kke Norheim, K et al. (2013) A possible genetic association with chronic fatigue in primary Sj?gren's syndrome: a candidate gene study. Rheumatalogoy International, doi:10.1007/s00296-013-2850-9. Abstract
Bretherick, K et al. (2013) Sex- and Subtype-Specific Analysis of H2AFX Polymorphisms in Non-Hodgkin Lymphoma. PLoS ONE, 8(9):e74619, doi:10.1371/journal.pone.0074619. Abstract
Bukvic, B et al. (2013) Asthma severity, polymorphisms in 20p13 and their interaction with tobacco smoke exposure. Pediatric Allergy and Immunology, 24(1)10-18, doi:10.1111/pai.12019. Abstract
Canovas, A et al. (2013) RNA sequencing to study gene expression and single nucleotide polymorphism variation associated with citrate content in cow milk. Journal of Dairy Science, doi:10.3168/jds.2012-6213. Abstract
Chantratita, N et al. (2013) Screen of whole blood responses to flagellin identifies TLR5 variation associated with outcome in meliodosis. Genes and Immunity, doi:10.1038/gene.2013.60. Abstract
Chandran, V et al. (2013) Human Leukocyte Antigen Alleles And Susceptibility To Psoriatic Arthritis. Human Immunology, doi:10.1016/j.humimm.2013.07.014. Abstract
Chen, K et al. (2013) Germline Mutations in NFKB2 Implicate the Noncanonical NF-?B Pathway in the Pathogenesis of Common Variable Immunodeficiency. AJHG, doi:10.1016/j.ajhg.2013.09.009. Abstract
Cho, J et al. (2013) Genetic Polymorphism of SMAD5 is Associated With Kawasaki Disease. Pediatric Cardiology, doi:10.1007/s00246-013-0826-x. Abstract
Clifford, A et al. (2013) Single nucleotide polymorphisms in CETP, SLC46A1, SLC19A1, CD36, BCMO1, APOA5, and ABCA1 are significant predictors of plasma HDL in healthy adults. Lipids in Health and Disease, 12:66. Abstract
Concepcion, J et al. (2013) Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6. Pediatric Diabetes, doi:10.1111/pedi.12063. Abstract
Coonrod, E et al. (2013) Clinical analysis of genome next-generation sequencing data using the Omicia platform. Expert Review of Molecular Diagnostics, 13(6):529-540, doi:10.1586/14737159.2013.811907. Abstract
Darbari, D et al. (2013) Severe Painful Vaso-Occlusive Crises and Mortality in a Contemporary Adult Sickle Cell Anemia Cohort Study. PLoS ONE, 8(11):e79923, doi:10.1371/journal.pone.0079923. Abstract
Dillon, S et al. (2013) Signatures of adaptation and genetic structure among the mainland populations of Pinus radiata (D. Don) inferred from SNP loci. Tree Genetics & Genomes, doi:10.1007/s11295-013-0650-8. Abstract
Edea, Z et al. (2013) Genetic diversity, population structure and relationships in indigenous cattle populations of Ethiopia and Korean Hanwoo breeds using SNP markers. Frontiers in Genetics, doi:10.3389/fgene.2013.00035. Abstract
Eicher, J et al. (2013) Associations of Prenatal Nicotine Exposure and the Dopamine Related Genes ANKK1 and DRD2 to Verbal Language. PLoS ONE, 8(5):e63762, doi:10.1371/journal.pone.0063762. Abstract
Eun, Y et al. (2013) Association study of integrins beta 1 and beta 2 gene polymorphism and papillary thyroid cancer. American Journal of Surgery, doi:10.1016/j.amjsurg.2012.05.035. Abstract
Eun, Y et al. (2013) Interleukin 22 Polymorphisms and Papillary Thyroid Cancer. Journal of Endocrinological Investigation. Abstract
Faraco, J et al. (2013) ImmnoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy. PLoS Genetics, 9(2):e1003270, doi:10.1371/journal.pgen.1003270. Abstract
Feng, X et al. (2013) Insulin receptor substrate 1 (IRS1) variants confer risk of diabetes in the Boston Puerto Rican Health Study. Asia-Pacific Journal of Clinical Nutrition, 22(1):150-159, doi:10.6133/apjcn.2013.22.1.09. Abstract
Ferencakovic, M et al. (2013) Estimating autozygosity from high-throughput information: effects of SNP density and genotyping errors. Genetics Selection Evolution, 45:42, doi:10.1186/1297-9686-45-42. Abstract
Flanagan, J et al. (2013) Genetic mapping and exome sequencing identify two mutations associated with stroke protection in pediatric patients with sickle cell anemia. Blood, doi:10.1182/blood-2012-10-464156. Abstract
Gill, R et al. (2013) Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity. Obesity, doi:10.1002/oby.20492. Abstract
Glorioso, N et al. (2013) Sex-Specific Effects of NLRP6/AVR and ADM Loci on Susceptibility to Essential Hypertension in a Sardinian Population. PLoS ONE, 8(10):e77562, doi:10.1371/journal.pone.0077562. Abstract
Haldorsen, K et al. (2013) No association of primary Sj?gren's syndrome with Fc? receptor gene variants. Genes & Immunity, 14, 234?237, doi:10.1038/gene.2013.12. Abstract
Han, J et al. (2013) Discovery of novel non-synonymous SNP variants in 988 candidate genes from 6 centenarians by target capture and next-generation sequencing. Mechanisms of Ageing and Development, doi:10.1016/j.mad.2013.01.005. Abstract
Hanson, E et al. (2013) Genetic Variants of Coagulation Factor XI Show Association with Ischemic Stroke Up to 70 Years of Age. PLoS ONE, 8(9):e75286, doi:10.1371/journal.pone.0075286. Abstract
Hennessy, M et al. (2013) Polymorphisms of Interleukin-1 Beta and Interleukin-17Alpha Genes Are Associated With Restless Legs Syndrome. Biological Research for Nursing, doi:10.1177/1099800413478827. Abstract
Huang, H et al. (2013) Genetic variants associated with circulating MMP1 levels near matrix metalloproteinase genes on chromosome 11q21-22 in Taiwanese: interaction with obesity. BMC Medical Genetics, 14:30, doi:10.1186/1471-2350-14-30. Abstract
Johnson, A et al. (2013) Resequencing and Clinical Associations of the 9p21.3 Region: A Comprehensive Investigation in the Framingham Heart Study. Circulation, doi:10.1161/?CIRCULATIONAHA.112.111559. Abstract
Kanwal, F et al. (2013) Many Patients with IL28B Genotypes Associated with Response to Therapy are Ineligible for Treatment Because of Comorbidities. Clinical Gastroenterology and Hepatology, doi:10.1016/j.cgh.2013.08.034. Abstract
Kerner, B, Christensen, B et al. (2013) Rare genomic variants link bipolar disorder to CREB regulated intracellular signaling pathways. Frontiers in Psychiatry, doi:10.3389/fpsyt.2013.00154. Abstract
Khrunin, A et al. (2013) A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe. PLoS ONE, 8(3):e58552, doi:10.1371/journal.pone.0058552. Abstract
Kim, H et al. (2013) Semantic networks for genome-wide CNV associated with AST and ALT in Korean cohorts. Molecular & Cellular Toxicology, 9(2):103-111, doi:10.1007/s13273-013-0014-3. Abstract
Kim, J et al. (2013) A Genome-Wide Association Study of Total Serum and Mite-Specific IgEs in Asthma Patients. PLoS ONE, 8(8):e71958, doi:10.1371/journal.pone.0071958. Abstract
Kim, K et al. (2013) Assessment of NMDA receptor genes (GRIN2A, GRIN2B and GRIN2C) as candidate genes in the development of degenerative lumbar scoliosis. Experimental and Therapeutic Medicine, 5(3):977-981. Abstract
Kim, K et al. (2013) Association between regulating synaptic membrane exocytosis 2 gene polymorphisms and degenerative lumbar scoliosis. Biomedical Reports, 1(4):619-623, doi:10.3892/br.2013.101. Abstract
Kim, S et al. (2013) Missense Polymorphisms in XIAP-Associated Factor-1 (XAF1) and Risk of Papillary Thyroid Cancer: Correlation with Clinicopathological Features. Anticancer Research, 33(5):2205-2210. Abstract
Kim, T et al. (2013) TLR9 gene polymorphism (rs187084, rs352140): association with acute rejection and estimated glomerular filtration rate in renal transplant recipients. International Journal of Immunogenetics, doi:10.1111/iji.12069. Abstract
Kim, Y et al. (2013) Genome-Wide Association Study Identified New Variants Associated with the Risk of Chronic Hepatitis B. Human Molecular Genetics, doi:10.1093/hmg/ddt266. Abstract
Kirino, Y et al. (2013) Genome-wide association analysis identifies new susceptibility loci for Beh?et's disease and epistasis between HLA-B*51 and ERAP1. Nature Genetics, doi:10.1038/ng.2520. Abstract
Kirino, Y et al. (2013) Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Beh?et disease. PNAS, doi:10.1073/pnas.1306352110. Abstract
Kranis, A et al. (2013) Development of a high density 600K SNP genotyping array for chicken. BMC Genomics, 14:59, doi:10.1186/1471-2164-14-59. Abstract
Kwon, K et al. (2013) Association Study of Chemokine (C?C motif) Ligand 5 Gene Polymorphism and Papillary Thyroid Cancer. Journal of Investigative Surgery, doi:10.3109/08941939.2013.805857. Abstract
Lee, E et al. (2013) Genetic variations in regulator of G-protein signaling (RGS) confer risk of bladder cancer. Cancer, doi:10.1002/cncr.27871. Abstract
Lee, H et al. (2013) Ethnic specificity of lupus-associated loci identified in a genome-wide association study in Korean women. Annuals of Rheumatic Diseases, doi:10.1136/annrheumdis-2012-202675. Abstract
Lencz, T et al. (2013) Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder. Nature Communications, 4(2739), doi:10.1038/ncomms3739. Abstract
Lew, B et al. (2013) Association between IL16 gene polymorphisms and susceptibility to alopecia areata in the Korean population. International Journal of Dermatology, doi:10.1111/ijd.12251. Abstract
Li, M et al. (2013) A novel c.-274C>G polymorphism in bovine SIRT1 gene contributes to diminished promoter activity and is associated with increased body size. Animal Genetics, doi:10.1111/age.12048. Abstract
Li, M et al. (2013) Tetra-primer ARMS-PCR is an efficient SNP genotyping method: with an example from SIRT2. Analytical Methods, doi:10.1039/c3ay41370e. Abstract
Lin, P et al. (2013) Runs of Homozygosity Associated with Speech Delay in Autism in a Taiwanese Han Population: Evidence for the Recessive Model. PLoS ONE, 8(8):e72056, doi:10.1371/journal.pone.0072056. Abstract
Londono, C et al. (2013) An H-MRS framework predicts the onset of Alzheimer's disease symptoms in PSEN1 mutation carriers. Journal of the Alzheimer's Association, doi:10.1016/j.jalz.2013.08.282. Abstract
Maran, S et al. (2013) Gastric precancerous lesions are associated with gene variants in Helicobacter pylori-susceptible ethnic Malays. World Journal of Gastroenterology, 19(23):3615-3622, doi:10.3748/wjg.v19.i23.3615. Abstract
Martin, J et al. (2013) Systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. Human Molecular Genetics, doi:10.1093/hmg/ddt248. Abstract
Matsunami, N, Christensen, B, & Lambert, C et al. (2013) Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population. PLoS ONE, 8(1):e52239, doi:10.1371/journal.pone.0052239. Abstract
McCaffery, J et al. (2013) FTO predicts weight regain in the Look AHEAD clinical trial. International Journal of Obesity, doi:10.1038/ijo.2013.54. Abstract
McClure, M et al. (2013) Fine Mapping for Weaver Syndrome in Brown Swiss Cattle and the Identification of 41 Concordant Mutations across NRCAM, PNPLA8 and CTTNBP2. PLoS ONE, 8(3):e59251, doi:10.1371/journal.pone.0059251. Abstract
Mendes-Junior, C et al. (2013) Genetic diversity of the HLA-G coding region in Amerindian populations from the Brazilian Amazon: a possible role of natural selection. Genes & Immunity, doi:10.1038/gene.2013.47. Abstract
Meng, Q et al. (2013) Genetic Variants in the Fibroblast Growth Factor Pathway as Potential Markers of Ovarian Cancer Risk, Therapeutic Response, and Clinical Outcome. Clinical Chemistry, doi:10.1373/clinchem.2013.211490. Abstract
Miaskowski, C et al. (2013) Lymphatic and Angiogenic Candidate Genes Predict the Development of Secondary Lymphedema following Breast Cancer Surgery. PLoS ONE, 8(4):e60164, doi:10.1371/journal.pone.0060164. Abstract
Murphy, T et al. (2013) Genetic variation in DNMT3B and increased global DNA methylation is associated with suicide attempts in psychiatric patients. Genes, Brain and Behavior, 12(1):125-132, doi:10.1111/j.1601-183x.2012.00865.x. Abstract
Niu, P et al. (2013) Porcine insulin-like growth factor 1 (IGF1) gene polymorphisms are associated with body size variation. Genes & Genomics, doi:10.1007/s13258-013-0098-0. Abstract
O'Rawe, J et al. (2013) Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. GenomeMedicine, 5:28, doi:10.1186/gm432. Abstract
Pan, Y et al. (2013) Genome-wide association studies of maximum number of drinks. Journal of Psychiatric Research, doi:10.1016/j.jpsychires.2013.07.013. Abstract
Papadopoulos, P et al. (2013) Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies. Nucleic Acids Research, doi:10.1093/nar/gkt1125. Abstract
Park, B et al. (2013) Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication. Human Genetics, doi:10.1007/s00439-013-1281-8. Abstract
Park, T et al. (2013) Lack of association between AQP4 polymorphisms and risk of inflammatory demyelinating disease in a Korean population. Gene, doi:10.1016/j.gene.2013.12.007. Abstract
Petersen, D et al. (2013) Complex Patterns of Genomic Admixture within Southern Africa. PLoS Genetics, 9(3):1003309, doi:10.1371/journal.pgen.1003309. Abstract
Peterson, T et al. (2013) HLA class I associations with rates of HIV-1 seroconversion and disease progression in the Pumwani Sex Worker Cohort. Tissue Antigens, doi:10.1111/tan.12051. Abstract
Pineda, P et al. (2013) Innate immune gene variation and differential susceptibility to uterine diseases in Holstein cows. Theriogenology, doi:10.1016/j.theriogenology.2013.04.027. Abstract
Pinsonneault, J et al. (2013) Association study of the estrogen receptor gene ESR1 with postpartum depression?a pilot study. Archives of Women's Mental Health, doi:10.1007/s00737-013-0373-8. Abstract
Qwabe, S et al. (2013) Evaluation of the BovineSNP50 genotyping array in four South African cattle populations. South African Journal of Animal Science, 43(1). Abstract
Ramsey, T et al. (2013) Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study. Schizophrenia Research, doi:doi:10.1016/j.schres.2013.07.008. Abstract
Rogers, E et al. (2013) Toll-like receptor-associated sequence variants and prostate cancer risk among men of African descent. Genes & Immunity, doi:10.1038/gene.2013.22. Abstract
Sanford, J et al. (2013) Regulatory polymorphisms in CYP2C19 affecting hepatic expression. Drug Metabolism and Drug Interactions, doi:10.1515/dmdi-2012-0038. Abstract
Sapkota, Y et al. (2013) Identification of a Breast Cancer Susceptibility Locus at 4q31.22 Using a Genome-Wide Association Study Paradigm. PLoS ONE, 8(5):e62550, doi:10.1371/journal.pone.0062550. Abstract
Santos, M et al. (2013) Common Genetic Polymorphisms in the ABCB1 Gene Are Associated with Risk of Major Depressive Disorder in Male Portuguese Individuals. Genetic Testing and Molecular Biomarkers, doi:10.1089/gtmb.2013.0197. Abstract
Santos, S et al. (2013) ERBB2 in Cat Mammary Neoplasias Disclosed a Positive Correlation between RNA and Protein Low Expression Levels: A Model for erbB-2 Negative Human Breast Cancer. PLoS ONE, 8(12):e83673, doi:10.1371/journal.pone.0083673. Abstract
Schiotis, R et al. (2013) Candidate's single-nucleotide polymorphism predictors of treatment nonresponse to the first anti-TNF inhibitor in ankylosing spondylitis. Rheumatology International, doi:10.1007/s00296-013-2913-y. Abstract
Schuetz, J et al. (2013) Non-Hodgkin Lymphoma Risk and Variants in Genes Controlling Lymphocyte Development. PLoS ONE, 8(9):e75170, doi:10.1371/journal.pone.0075170. Abstract
Shalev, S et al. (2013) Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Pediatric Diabetes, doi:10.1111/pedi.12086. Abstract
Silio, L et al. (2013) Measuring inbreeding and inbreeding depression on pig growth from pedigree or SNP-derived metrics. Journal of Animal Breeding and Genetics, doi:10.1111/jbg.12031. Abstract
Singh, M et al. (2013) A susceptibility haplotype within the endothelial nitric oxide synthase gene influences bone mineral density in hypertensive women. Journal of Bone and Mineral Metabolism, doi:10.1007/s00774-013-0533-y. Abstract
Stephens, K et al. (2013) Associations between cytokine gene variations and severe persistent breast pain in women following breast cancer surgery. Journal of Pain, doi:10.1016/j.jpain.2013.09.015. Abstract
Suchankova, P et al. (2013) Genetic Variation of the Ghrelin Signalling System in Individuals with Amphetamine Dependence. PLoS ONE, 8(4):e61242, doi:10.1371/journal.pone.0061242. Abstract
Suh, J et al. (2013) A Polymorphism of Interleukin-22 Receptor Alpha-1 Is Associated with the Development of Childhood IgA Nephropathy. Journal of Interferon & Cytokine Research, doi:10.1089/jir.2012.0097. Abstract
Swoboda, K et al. (2013) A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. American Journal of Medical Genetics, doi:10.1002/ajmg.a.36189. Abstract
Teng, M et al. (2013) Mediation analysis reveals a sex-dependent association between ABO gene variants and TG/HDL-C ratio that is suppressed by sE-selectin level. Atherosclerosis, doi:10.1016/j.atherosclerosis.2013.03.032. Abstract
Thompson, I et al. (2013) Association of Complement Factor H Tyrosine 402 Histidine Genotype with Posterior Involvement in Sarcoid-Related Uveitis. American Journal of Opthalmology, doi:10.1016/j.ajo.2013.01.019. Abstract
Tian, M et al. (2013) Copy number variants in locally raised Chinese chicken genomes determined using array comparative genomic hybridization. BMC Genomics, 14:262, doi:10.1186/1471-2164-14-262. Abstract
Tsermpini, E et al. (2013) Individualizing clozapine and risperidone treatment for schizophrenia patients. Future Medicine, 15(1):95-110, doi:10.2217/pgs.13/219. Abstract
Tsongalis, G et al. (2013) Routine use of the Ion Torrent AmpliSeq Cancer Hotspot Panel for identification of clinically actionable somatic mutations. Clinical Chemistry and Laboratory Medicine, doi:10.1515/cclm-2013-0883. Abstract
Veerappa, A et al. (2013) Copy number variation-based polymorphism in a new pseudoautosomal region 3 (PAR3) of a human X-chromosome-transposed region (XTR) in the Y chromosome. Functional & Integrative Genomics, doi:10.1007/s10142-013-0323-6. Abstract
Veerappa, A et al. (2013) Genome-wide copy number scan identifies disruption of PCDH11X in developmental dyslexia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, doi:10.1002/ajmg.b.32199. Abstract
Veerappa, A et al. (2013) Unravelling the Complexity of Human Olfactory Receptor Repertoire by Copy Number Analysis across Population Using High Resolution Arrays. PLoS ONE, 8(7):e66843, doi:10.1371/journal.pone.0066843. Abstract
Venegas-Vega, C et al. (2013) Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques. BioMed Research International, doi:10.1155/2013/209204. Abstract
Visscher, H et al. (2013) Validation of Variants in SLC28A3 and UGT1A6 as Genetic Markers Predictive of Anthracycline-Induced Cardiotoxicity in Children. Pediatric Blood and Cancer, doi:10.1002/pbc.24505. Abstract
Wang, D et al. (2013) Common CYP2D6 Polymorphisms Affecting Alternative Splicing and Transcription: Long-range Haplotypes with Two Regulatory Variants Modulate CYP2D6 Activity. Human Molecular Genetics, doi:10.1093/hmg/ddt417. Abstract
Wang, K et al. (2013) Association of HS6ST3 gene polymorphisms with obesity and triglycerides: gene x gender interaction. Journal of Genetics, 92(3). Abstract
Wang, K et al. (2013) NRG3 gene is associated with the risk and age at onset of Alzheimer disease. Journal of Neural Transmission, doi:10.1007/s00702-013-1091-0. Abstract
Wang, M et al. (2013) A Novel Approach to Detect Cumulative Genetic Effects and Genetic Interactions in Crohn's Disease. Inflammatory Bowel Diseases, doi:10.1097/MIB.0b013e31828706a0. Abstract
Wang, M et al. (2013) Gene-gene and gene-environment interactions in ulcerative colitis. Human Genetics, doi:10.1007/s00439-013-1395-z. Abstract
Wang, Y et al. (2013) Genetic variants in matrix metalloproteinase genes as disposition factors for ovarian cancer risk, survival, and clinical outcome. Molecular Carciogenesis, doi:10.1002/mc.22111. Abstract
Xie, H et al. (2013) Genetic variations in base excision repair pathway and risk of bladder cancer: A case?control study in the United States. Molecular Carcinogenesis, doi:10.1002/mc.22073. Abstract
Xu, C et al. (2013) BCL9 and C9orf5 Are Associated with Negative Symptoms in Schizophrenia: Meta-Analysis of Two Genome-Wide Association Studies. PLoS ONE, 8(1):e51674, doi:10.1371/journal.pone.0051674. Abstract
Zhang, J et al. (2013) Genetic variation in BDNF is associated with antipsychotic treatment resistance in patients with schizophrenia. Schizophrenia Research, S0920-9964(13):00058-3, doi:10.1016/j.schres.2013.01.020. Abstract
Zheng, J et al. (2013) Genome-Wide Contribution of Genotype by Environment Interaction to Variation of Diabetes-Related Traits. PLoS ONE, 8(10):e77442, doi:10.1371/journal.pone.0077442. Abstract

2012 Publications

Arrington, C et al. (2012) Exome Analysis of a Family with Pleiotropic Congenital Heart Disease. Circulation: Cardiovascular Genetics, doi:10.1161/?CIRCGENETICS.111.961797. Abstract
Balasubbu, S et al. (2012) Evaluation of SNPs on chromosome 2p with Primary Open- Angle Glaucoma in the South Indian Cohort. Investigative Ophthalmology & Visual Science, doi:10.1167/iovs.11-8602. Abstract
Ban, J et al. (2012) Interleukin-1 Beta Polymorphisms are Associated with Lymph Node Metastasis in Korean Patients with Papillary Thyroid Carcinoma. Immunological Investigations, 41(8):888-905, doi:10.3109/08820139.2012.724751. Abstract
Bartolome, N et al. (2012) Genetic polymorphisms, inside and outside the MHC, improve prediction of AS radiographic severity in addition to clinical variables. Rheumatology, doi:10.1093/rheumatology/kes056. Abstract
Bolstad, A et al. (2011) Association between genetic variants in the tumour necrosis factor/lymphotoxin a/lymphotoxin ? locus and primary Sj?gren's syndrome in Scandinavian samples. Annals of the Rheumatic Diseases, doi:10.1136/annrheumdis-2011-200446. Abstract
Camargo, M et al. (2012) GWAS reveals new recessive loci associated with non-syndromic facial clefting. European Journal of Medical Genetics, doi:10.1016/j.ejmg.2012.06.005. Abstract
Cao, D et al. (2012) CDKN2B Polymorphism Is Associated with Primary Open-Angle Glaucoma (POAG) in the Afro-Caribbean Population of Barbados, West Indies. PLoS ONE, 7(6):e39278, doi:10.1371/journal.pone.0039278. Abstract
Chang, J et al. (2012) Genetic Variants in Telomere-Maintenance Genes and Bladder Cancer Risk. PLoS ONE, 7(2):e30665, doi:10.1371/journal.pone.0030665. Abstract
Chen, L et al. (2012) STK39 is an independent risk factor for male hypertension in Han Chinese. International Journal of Cardiology, 154(2):122-127, doi:10.1016/j.ijcard.2010.09.007. Abstract
Chen, X et al. (2012) ANKRD7 and CYTL1 are novel risk genes for alcohol drinking behavior. Chinese Medical Journal, 125(6):1127-1134. Abstract
Chettier, R (2012) Genome-Wide Array Study Identified Copy Number Variants Loci Associated with Adolescent Idiopathic Scoliosis. Orthopaedic Proceedings, 94-B (SUPP XXVII 45). Abstract
Cho, J et al. (2012) Association between CD40 promoter polymorphism (rs1800686, -508 C/T) and ischemic stroke with hypertension in a Korean population. Molecular & Cellular Toxicology, 8(3):257-262, doi:10.1007/s13273-012-0031-7. Abstract
Cho, S et al. (2012) Polymorphism of IGF1R Is Associated with Papillary Thyroid Carcinoma in a Korean Population. Journal of Interferon & Cytokine Research, 32(9):401-406, doi:10.1089/jir.2011.0084. Abstract
Choe, B et al. (2012) Polymorphisms of TGFBR2 contribute to the progression of papillary thyroid carcinoma. Molecular and Cellular Toxicology. 8:1-8, doi:10.1007/s13273-012-0001-0. Abstract
Choi, Y et al. (2012) Transforming growth factor beta receptor II polymorphisms are associated with Kawasaki disease. Korean Pediatric Society, 55(1):18-23, doi:10.3345/kjp.2012.55.1.18. Abstract
Coon, S et al. (2012) Polymorphisms of the SAMHD1 gene are not associated with the infection and natural control of HIV-1 in Europeans and African Americans. AIDS Research and Human Retroviruses, doi:10.1089/AID.2012.0039. Abstract
Dai, J et al. (2012) Genetic Polymorphism in a VEGF-Independent Angiogenesis Gene ANGPT1 and Overall Survival of Colorectal Cancer Patients after Surgical Resection. PLoS ONE,7(4):e34758, doi:10.1371/journal.pone.0034758. Abstract
de Quervain, D et al. (2012) PKCa is genetically linked to memory capacity in healthy subjects and to risk for posttraumatic stress disorder in genocide survivors. PNAS, doi:10.1073/pnas.1200857109. Abstract
Di Bernardo, M et al. (2012) Risk of developing chronic lymphocytic leukemia is influenced by HLA-A class I variation. Leukemia, doi:10.1038/leu.2012.173. Abstract
Dias, A et al. (2012) Genetic Variation in Putative Salt Taste Receptors and Salt Taste Perception in Humans. Chemical Senses, doi:10.1093/chemse/bjs090. Abstract
Dillon, S et al. (2012) Association genetics in Corymbia citriodora subsp. variegata identifies single nucleotide polymorphisms affecting wood growth and cellulosic pulp yield. New Phytologist, doi:10.1111/j.1469-8137.2012.04200.x. Abstract
Dotson, C et al. (2012) Variation in the Gene TAS2R13 is Associated with Differences in Alcohol Consumption in Patients with Head and Neck Cancer. Chemical Senses, doi:10.1093/chemse/bjs063. Abstract
Dunn, L et al. (2012) Cytokine gene variation is associated with depressive symptom trajectories in oncology patients and family caregivers. European Journal of Oncology Nursing, doi:10.1016/j.ejon.2012.10.004. Abstract
Edea, Z et al. (2012) Comparison of SNP Variation and Distribution in Indigenous Ethiopian and Korean Cattle (Hanwoo) Populations. Genomics & Informatics, 10(3):200-205, doi:10.5808/GI.2012.10.3.200. Abstract
Erblich, J et al. (2012) Genetic predictors of cue- and stress-induced cigarette craving: An exploratory study. Experimental and Clinical Psychopharmacology, 20(1):40-46, doi:10.1037/a0025369.
Erickson, S et al. (2012) Cheek swabs, SNP chips, and CNVs: Assessing the quality of copy number variant calls generated with subject-collected mail-in buccal brush DNA samples on a high-density genotyping microarray. BMC Medical Genetics, 13:51, doi:10.1186/1471-2350-13-51. Abstract
Ferencakovic, M et al. (2012) Estimates of autozygosity derived from runs of homozygosity: empirical evidence from selected cattle populations. Journal of Animal Breeding and Genetics, doi:10.1111/jbg.12012. Abstract
Ferraresso, M et al. (2012) The potential of steroids and xenobiotic receptor polymorphisms in forecasting cyclosporine pharmacokinetic variability in young kidney transplant recipients. Pediatric Transplantation, doi:10.1111/j.1399-3046.2012.01751.x. Abstract
Fortes, M et al. (2012) Gene network analyses of first service conception in Brangus heifers: Use of genome and trait associations, hypothalamic-transcriptome information, and transcription factors. Journal of Animal Science, doi:10.2527/jas.2011-4601. Abstract
Gan-Or, Z et al. (2012) Association of Sequence Alterations in the Putative Promoter of RAB7L1 With a Reduced Parkinson Disease Risk. Archives of Neurology, 69(1):105-110, doi:10.1001/archneurol.2011.924. Abstract
Guha, S et al. (2012) Implications for health and disease in the genetic signature of the Ashkenazi Jewish population. Genome Biology, 13:R2, doi:10.1186/gb-2012-13-1-r2. Abstract
Han, S et al. (2012) A genetic association analysis of polymorphisms, rs2282695 and rs12373539, in the FOSB gene and papillary thyroid cancer. Experimental and Therapeutic Medicine, 4(3):519-523. Abstract
Hanson, E et al. (2012) No evidence for an association between ABO blood group and overall ischemic stroke or any of the major etiologic subtypes. Thrombosis Research, doi:10.1016/j.thromres.2012.03.016. Abstract
Hanson, E et al. (2012) Plasma FVII-activating protease (FSAP) antigen and activity levels are increased in ischemic stroke. Journal of Thrombosis and Haemostasis, doi:10.1111/j.1538-7836.2012.04692.x. Abstract
Havik, B et al. (2012) DCLK1 Variants Are Associated across Schizophrenia and Attention Deficit/Hyperactivity Disorder. PLoS ONE, 7(4):e35424. doi:10.1371/journal.pone.0035424. Abstract
Henderson, L et al. (2012) Variation in MSRA Modifies Risk of Neonatal Intestinal Obstruction in Cystic Fibrosis. PLoS Genetics, 8(3):e1002580. doi:10.1371/journal.pgen.1002580. Abstract
Hong, H & Lambert, C et al. (2012) Technical Reproducibility of Genotyping SNP Arrays Used in Genome-Wide Association Studies. PLoS ONE, 7(9):e44483, doi:10.1371/journal.pone.0044483. Abstract
Illi, J et al. (2012) Association between pro- and anti-inflammatory cytokine genes and a symptom cluster of pain, fatigue, sleep disturbance, and depression. Cytokine, doi:10.1016/j.cyto.2012.02.015. Abstract
Jiao, X et al. (2012) Association of markers at chromosome 15q14 in Chinese patients with moderate to high myopia. Molecular Vision, 18:2633-2646. Abstract
Jun, J et al. (2012) Association Study of Fibroblast Growth Factor 2 and Fibroblast Growth Factor Receptors Gene Polymorphism in Korean Ossification of the Posterior Longitudinal Ligament Patients. Journal of Korean Neurosurgical Society, 52(1):7-13, doi:10.3340/jkns.2012.52.1.7. Abstract
Kang, W et al. (2012) Genetic variants of GRIA1 are associated with susceptibility to schizophrenia in Korean population. Molecular Biology Reports, 39(12):10697-10703, doi:10.1007/s11033-012-1960-x. Abstract
Karoly, H et al. (2012) Genetic Influences on Physiological and Subjective Responses to an Aerobic Exercise Session among Sedentary Adults. Journal of Cancer Epidemiology, doi:10.1155/2012/540563. Abstract
Kim, D et al. (2012) Genome-wide Association Analysis of Blood Biomarkers in COPD. American Journal of Respiratory and Critical Care Medicine, doi:10.1164/rccm.201206-1013OC. Abstract
Kim, J et al. (2012) Variations in the Vascular Endothelial Growth Factor Pathway Predict Pulmonary Complications. The Annals of Thoracic Surgery, doi:10.1016/j.athoracsur.2012.05.048. Abstract
Kim, H et al. (2012) Cerebral vasospasm after sub-arachnoid hemorrhage as a clinical predictor and phenotype for genetic association study. International Journal of Stroke, doi:10.1111/j.1747-4949.2012.00823.x. Abstract
Kim, H et al. (2012) Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians. Obesity, doi:10.1002/oby.20153. Abstract
Kim, K et al. (2012) Association of Estrogen Receptor 2(ESR 2) Gene Polymorphisms with Ossification of the Posterior Longitudinal Ligament of the Spine. Journal of Korean Society of Spine Surgery, 19(1):1-7, doi:10.4184/jkss.2012.19.1.1. Abstract
Kim, K et al. (2012) Copy Number Variations in Normal Karyotype Acute Myeloid Leukemia and Their Association with Treatment Response. Basic & Clinical Pharmacology & Toxicology, doi:10.1111/j.1742-7843.2012.00904.x. Abstract
Kim, S et al. (2012) Association study between polymorphisms of the PARD3 gene and schizophrenia. Experimental Therapeutic Medicine, 3(5):881-885, doi:10.3892/etm.2012.496. Abstract
Kim, S et al. (2012) A missense polymorphism (rs11466653, Met326Thr) of toll-like receptor 10 (TLR10) is associated with tumor size of papillary thyroid carcinoma in the Korean population. Endocrine, doi:10.1007/s12020-012-9783-z. Abstract
Kim, Y et al. (2012) Polymorphisms in bone morphogenetic protein 3 and the risk of papillary thyroid cancer. Oncology Letters, 5(1):336-340, doi:10.3892/ol.2012.962. Abstract
Koizumi, A et al. (2012) P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure. Environmental Health and Preventive Medicine, doi:10.1007/s12199-012-0299-1. Abstract
Kotulicova, D et al. (2012) Variability of GP6 gene in patients with sticky platelet syndrome and deep venous thrombosis and/or pulmonary embolism. Blood Coagulation & Fibrinolysis, 23(6):543-547, doi:10.1097/MBC.0b013e328355a808. Abstract
Kubisz, P et al. (2012) The prevalence of the platelet glycoprotein VI polymorphisms in patients with sticky platelet syndrome and ischemic stroke. Hematology, 17(6):355-362(8). Abstract
Lambert, C et al. (2012) Learning from our GWAS mistakes: from experimental design to scientific method. Biostatistics, doi:10.1093/biostatistics/kxr055. Abstract
Landgren, S et al. (2012) A novel ARC gene polymorphism is associated with reduced risk of Alzheimer's disease. Journal of Neural Transmission, doi:10.1007/s00702-012-0823-x. Abstract
Lavender, N et al. (2012) Interaction among apoptosis-associated sequence variants and joint effects on aggressive prostate cancer. BMC Medical Genomics, 5:11, doi:10.1186/1755-8794-5-11. Abstract
Lee, B et al. (2012) Genome-wide analysis of copy number variations reveals that aging processes influence body fat distribution in Korea Associated Resource (KARE) cohorts. Human Genetics, doi:10.1007/s00439-012-1203-1. Abstract
Lee, S et al. (2012) Association Study of 27 Annotated Genes for Clozapine Pharmacogenetics: Validation of Preexisting Studies and Identification of a New Candidate Gene, ABCB1, for Treatment Response. Journal of Clinical Psychpharmacology, doi:10.1097/JCP.0b013e31825ac35c. Abstract
Lew, B et al. (2012) Association between IL17A/IL17RA Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population. Annals of Dermatology, 24(1), doi:10.5021/ad.2012.24.1.61. Abstract
Li, Q et al. (2012) ATP-Binding Cassette Transporter G5 and G8 Polymorphisms and Several Environmental Factors with Serum Lipid Levels. PLoS ONE, 7(5):e37972, doi:10.1371/journal.pone.0037972. Abstract
Lin, J et al. (2012) Systematic Evaluation of Apoptotic Pathway Gene Polymorphisms and Lung Cancer Risk. Carcinogenesis, doi:10.1093/carcin/bgs192. Abstract
Lin, M et al. (2012) Genetic variants within ultraconserved elements and susceptibility to right- and left-sided colorectal adenocarcinoma. Carcinogenesis, doi:10.1093/carcin/bgs096. Abstract
Liu, Q et al. (2012) Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study. Pharmacogenomics, 13(11):1227-1237, doi:10.2217/pgs.12.105. Abstract
Loo, S et al. (2012) Genome-Wide Association Study of Intelligence: Additive Effects of Novel Brain Expressed Genes. Child and Adolescent Psychiatry, doi:10.1016/j.jaac.2012.01.006. Abstract
Luo, M et al. (2012) A genetic polymorphism of FREM1 is associated with resistance against HIV infection in the Pumwani Sex Worker Cohort. Journal of Virology, doi:10.1128/?JVI.01499-12. Abstract
Manjarrez-Orduno, N et al. (2012) CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation. Nature Genetics, 44:1227-1230, doi:10.1038/ng.2439. Abstract
Maran, S et al. (2012) Deleted in Colorectal Cancer (DCC) Gene Polymorphism is Associated with H. pylori Infection among Susceptible Malays from the North-Eastern Region of Peninsular Malaysia. Hepato-Gastroenterology, 60(121), doi:10.5754/hge12471. Abstract
Marinho, S et al. (2012) 17q12-21 Variants are associated with asthma and interact with active smoking in an adult population from the United Kingdom. Annals of Allergy, Asthma & Immunology, doi:10.1016/j.anai.2012.03.002. Abstract
McCaffery, J et al. (2012) Obesity susceptibility loci and dietary intake in the Look AHEAD Trial. American Journal of Clinical Nutrition, doi:10.3945/?ajcn.111.026955. Abstract
McCann, B et al. (2012) Associations Between Pro- and Anti-Inflammatory Cytokine Genes and Breast Pain in Women Prior to Breast Cancer Surgery. Journal of Pain, doi:10.1016/j.jpain.2011.02.358. Abstract
McClure, M et al. (2012) Imputation of Microsatellite Alleles from Dense SNP Genotypes for Parental Verification. Frontiers in Genetics, 3:140, doi:10.3389/fgene.2012.00140. Abstract
Miaskowski, C et al. (2012) Evidence of Associations between Cytokine Genes and Subjective Reports of Sleep Disturbance in Oncology Patients and Their Family Caregivers. PLoS ONE, 7(7):e40560, doi:10.1371/journal.pone.0040560. Abstract
Mikacenic, C et al. (2012) Variation in the TLR10/TLR1/TLR6 locus is the major genetic determinant of interindividual difference in TLR1/2-mediated responses. Genes & Immunity, doi:10.1038/gene.2012.53. Abstract
Moran, C et al. (2012) IL-10R polymorphisms are associated with very-early-onset ulcerative colitis. Inflammatory Bowel Diseases, doi:10.1002/ibd.22974. Abstract
Newman, J et al. (2012) High-altitude pulmonary hypertension in cattle (brisket disease): Candidate genes and gene expression profiling of peripheral blood mononuclear cells. Pulmonary Circulation, 1(4):462-469, doi:10.4103/2045-8932.93545. Abstract
Nishida, N et al. (2012) Genome-Wide Association Study Confirming Association of HLA-DP with Protection against Chronic Hepatitis B and Viral Clearance in Japanese and Korean. PLoS ONE, 7(6):e39175. doi:10.1371/journal.pone.0039175. Abstract
O'Mahony, S et al. (2012) Inflammation and Immune-Related Candidate Gene Associations with Acute Lung Injury Susceptibility and Severity: A Validation Study. PLoS ONE, 7(12):e51104, doi:10.1371/journal.pone.0051104. Abstract
Paik, et al. (2012) Gene mapping study for constitutive skin color in an isolated Mongolian population. Experimental & Molecular Medicine, 44(3):241-249, doi:10.3858/emm.2012.44.3.020. Abstract
Pap, D et al. (2012) Genetic variants in the catechol-o-methyltransferase gene are associated with impulsivity and executive function: Relevance for major depression. Neuropsychiatric Genetics, doi:10.1002/ajmg.b.32098. Abstract
Papp, A et al. (2012) Cholesteryl Ester Transfer Protein (CETP) Polymorphisms Affect mRNA Splicing, HDL Levels, and Sex-Dependent Cardiovascular Risk. PLoS ONE, 7(3):e31930, doi:10.1371/journal.pone.0031930. Abstract
Park, B et al. (2012) Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population. Human Genetics, doi:10.1007/s00439-012-1247-2. Abstract
Park, H et al. (2012) Assessment of two missense polymorphisms (rs4762 and rs699) of the angiotensinogen gene and stroke. Experimental and Therapeutic Medicine, 5(1):343-349, doi:10.3892/etm.2012.790. Abstract
Park, H et al. (2012) Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population. Journal of Medical Genetics, doi:10.1136/jmedgenet-2012-101209. Abstract
Park, H et al. (2012) A family-based association study after genome-wide linkage analysis identified two genetic loci for renal function in a Mongolian population. Kidney International, doi: 0.1038/ki.2012.389. Abstract
Park, S et al. (2012) LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls. Korean Journal of Pediatrics, 55(10):388-392, doi:10.3345/kjp.2012.55.10.388. Abstract
Park, T et al. (2012) Associations of CD6, TNFRSF1A, and IRF8 polymorphisms with risk of inflammatory demyelinating diseases. Neuropathology and Applied Neurobiology, doi:10.1111/j.1365-2990.2012.01304.x. Abstract
Peter, I et al. (2012) Association of Type 2 Diabetes Susceptibility Loci With One-Year Weight Loss in the Look AHEAD Clinical Trial. Obesity, doi:10.1038/oby.2012.11. Abstract
Pfenniger, A et al. (2012) Lack of association between connexin40 polymorphisms and coronary artery disease. Atherosclerosis, doi:10.1016/j.atherosclerosis.2012.01.050. Abstract
Rizk, N et al. (2012) Association of Adiponectin Gene Polymorphism (+T45G) With Acute Coronary Syndrome and Circulating Adiponectin Levels. Angiology, doi:10.1177/0003319712455497. Abstract
Rizk, N et al. (2012) Genetic polymorphisms of ICAM 1 and IL28 as predictors of liver fibrosis severity and viral clearance in hepatitis C genotype 4. Clinics and Research in Hepatology and Gastroenterology, doi:10.1016/j.clinre.2012.09.012. Abstract
Rosenfeld, J et al. (2012) Limitations of the Human Reference Genome for Personalized Genomics. PLoS ONE, 7(7):e40294. doi:10.1371/journal.pone.0040294. Abstract
Salem, S et al. (2012) IGF2BP2 Alternative Variants Associated with Glutamic Acid Decarboxylase Antibodies Negative Diabetes in Malaysian Subjects. PLoS ONE, 7(9):e45573, doi:10.1371/journal.pone.0045573. Abstract
Santos, S et al. (2012) Sequence Variants and Haplotype Analysis of Cat ERBB2 Gene: A Survey on Spontaneous Cat Mammary Neoplastic and Non-Neoplastic Lesions. International Journal of Molecular Sciences, 13:2783-2800, doi:10.3390/ijms13032783. Abstract
Sapkota, Y et al. (2012) A two-stage association study identifies methyl-CpG-binding domain protein 2 gene polymorphisms as candidates for breast cancer susceptibility. European Journal of Human Genetics, doi:10.1038/ejhg.2011.273. Abstract
Schiotis, R et al. (2012) Both Baseline Clinical Factors and Genetic Polymorphisms Influence the Development of Severe Functional Status in Ankylosing Spondylitis. PLoS ONE, 7(9):e43428, doi:10.1371/journal.pone.0043428. Abstract
Schuetz, J et al. (2012) Genetic Variation in Cell Death Genes and Risk of Non-Hodgkin Lymphoma. PLoS ONE, 7(2):e31560,doi:10.1371/journal.pone.0031560. Abstract
Sokol, J et al. (2012) Platelet aggregation abnormalities in patients with fetal losses: the GP6 gene polymorphism. Fertility and Sterility, doi:10.1016/j.fertnstert.2012.07.1108. Abstract
Sokolowski, M et al. (2012) Glutamatergic GRIN2B and polyaminergic ODC1 genes in suicide attempts: associations and gene?environment interactions with childhood/adolescent physical assault. Molecular Psychiatry, doi:10.1038/mp.2012.112. Abstract
Thean, L et al. (2012) Association of Caucasian-Identified Variants with Colorectal Cancer Risk in Singapore Chinese. PLoS ONE, 7(8):e42407, doi:10.1371/journal.pone.0042407. Abstract
Tiwari, V et al. (2012) Infantile Spasms Are Associated With Abnormal Copy Number Variations. Journal of Child Neurology, doi:10.1177/0883073812453496. Abstract
Toncheva, A et al. (2012) Genetic variants in Protocadherin-1, bronchial hyper-responsiveness, and asthma subphenotypes in German children. Pediatric Allergy and Immunology, 23(7):636-641, doi:10.1111/j.1399-3038.2012.01334.x. Abstract
Tupitsyna, T et al. (2012) Association of rs10912745 and rs4916375 polymorphisms located in the cluster of flavin-containing monooxygenase genes, with ischaemic cardioembolic stroke. Russian Journal of Genetics, 48(5):572-574, doi:10.1134/S1022795412040138. Abstract
Vazquez-Mena, O et al. (2012) Amplified Genes May Be Overexpressed, Unchanged, or Downregulated in Cervical Cancer Cell Lines. PLoS ONE, 7(3):e32667. doi:10.1371/journal.pone.0032667. Abstract
Velez, J et al. (2012) Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease. Molecular Psychiatry, doi:10.1038/mp.2012.81. Abstract
Vermehren, J et al. (2012) A Common HLA-DPA1 Variant Is Associated with Hepatitis B Virus Infection but Fails to Distinguish Active from Inactive Caucasian Carriers. PLoS ONE, 7(3):e32605. doi:10.1371/journal.pone.0032605. Abstract
Wang, D et al. (2012) Polymorphism in glutamate cysteine ligase catalytic subunit (GCLC) is associated with sulfamethoxazole-induced hypersensitivity in HIV/AIDS patients. BMC Medical Genomics, 5:32, doi:10.1186/1755-8794-5-32. Abstract
Wang, K et al. (2012) ANAPC1 and SLCO3A1 are associated with nicotine dependence: Meta-analysis of genome-wide association studies. Drug and Alcohol Dependence, doi:10.1016/j.drugalcdep.2012.02.003. Abstract
Wang, K et al. (2012) A novel locus for body mass index on 5p15.2: A meta-analysis of two genome-wide association studies. Gene, 500(1):80-84, doi:10.1016/j.gene.2012.03.046. Abstract
Wang, K et al. (2012) PKNOX2 is Associated with Formal Thought Disorder in Schizophrenia: a Meta-Analysis of Two Genome-wide Association Studies. Journal of Molecular Neuroscience, doi:10.1007/s12031-012-9787-4. Abstract
Wang, L et al. (2012) Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer. Cancer Research, doi:10.1158/0008-5472.CAN-12-1915. Abstract
Wang, V et al. (2012) Suggestive association between PLA2G12A single nucleotide polymorphism rs2285714 and response to anti-vascular endothelial growth factor therapy in patients with exudative age-related macular degeneration. Molecular Vision, 18:2578-2585. Abstract
Wei, H et al. (2012) Genetic Variations in the Transforming Growth Factor Beta Pathway as Predictors of Bladder Cancer Risk. PLoS ONE, 7(12):e51758, doi:10.1371/journal.pone.0051758. Abstract
Wei, H et al. (2012) MicroRNA target site polymorphisms in the VHL-HIF1a pathway predict renal cell carcinoma risk. Molecular Carcinogenesis, doi:10.1002/mc.21917. Abstract
Wong, M et al. (2012) Prediction of susceptibility to major depression by a model of interactions of multiple functional genetic variants and environmental factors. Molecular Psychiatry, 17:624-633, doi:10.1038/mp.2012.13. Abstract
Wu, S et al. (2012) Association of SELE genotypes/haplotypes with sE-selectin levels in Taiwanese individuals: interactive effect of MMP9 level. BMC Medical Genetics, 3:115, doi:10.1186/1471-2350-13-115. Abstract
Xu, C et al. (2012) Polymorphisms in seizure 6-like gene are associated with bipolar disorder I: Evidence of gene?gender interaction. Journal of Affective Disorders, doi:10.1016/j.jad.2012.07.017. Abstract
Yang, H et al. (2012) A Genome-Wide Homozygosity Association Study Identifies Runs of Homozygosity Associated with Rheumatoid Arthritis in the Human Major Histocompatibility Complex. PLoS ONE, 7(4):e34840, doi:10.1371/journal.pone.0034840. Abstract
Yang, S et al. (2012) Genetic Variation in CYP17A1 Is Associated with Arterial Stiffness in Diabetic Subjects. Experimental Diabetes Research, doi:10.1155/2012/827172. Abstract
Zhou, Z et al. (2012) Genetic variants of NOXA and MCL1 modify the risk of HPV16-associated squamous cell carcinoma of the head and neck. BMC Cancer, 12:159, doi:10.1186/1471-2407-12-159. Abstract

2011 Publications

Zhang, D et al. (2011) NAccuracy of CNV Detection from GWAS Data Plos One, https://doi.org/10.1371/journal.pone.0014511 Abstract
Abramsson, A et al. (2011) No Association of LOXL1 Gene Polymorphisms with Alzheimer's Disease. Neuromolecular Medicine, doi:10.1007/s12017-011-8144-z. Abstract
Acosta, M et al. (2011) A two-locus genetic interaction between LPHN3 and 11q predicts ADHD severity and long-term outcome. Translational Psychiatry, doi:10.1038/tp.2011.14. Abstract
Adkins, R et al. (2011) Parental ages and levels of DNA methylation in the newborn are correlated. BMC Medical Genetics, 12:47, doi:10.1186/1471-2350-12-47. Abstract
Adkins, R et al. (2011) Racial differences in gene-specific DNA methylation levels are present at birth. Birth Defects Research Part A: Clinical and Molecular Teratology, doi:10.1002/bdra.20770. Abstract
Akbari, M et al. (2011) Mutations in Fanconi anemia genes and the risk of esophageal cancer. Human Genetics, doi:10.1007/s00439-011-0951-7. Abstract
Akkermann, K et al. (2011) Food restriction leads to binge eating dependent upon the effect of the brain-derived neurotrophic factor Val66Met polymorphism. Psychiatry Research, 185(1-2):39-43, doi:10.1016/j.psychres.2010.04.024. Abstract
Aggarwal, S et al. (2011) Genetic Variations and Interactions in Anti-inflammatory Cytokine Pathway Genes in the Outcome of Leprosy: A Study Conducted on a MassARRAY Platform. Journal of Infectious Diseases, 204(8):1264-1273, doi:10.1093/infdis/jir516. Abstract
Alkalay, A et al. (2011) Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11. 2 deletion syndrome. American Journal of Medical Genetics, Part A, doi:10.1002/ajmg.a.33861. Abstract
Alkelai, A et al. (2011) Identification of new schizophrenia susceptibility loci in an ethnically homogeneous, family-based, Arab-Israeli sample. FASEB Journal, doi:10.1096/fj.11-184937. Abstract
Alliey-Rodriguez, N et al. (2011) Genome-wide association of personality traits in bipolar patients. Psychatric Genetics, doi:10.1097/YPG.0b013e3283457a31. Abstract
Aouizerat, B et al. (2011) GWAS for discovery and replication of genetic loci associated with SCA in patients with CAD. BMC Cardiovascular Disorders, 11:29, doi:10.1186/1471-2261-11-29. Abstract
Appel, S et al. (2011) Potential association of muscarinic receptor 3 gene variants with primary Sj?gren's syndrome. Annals of Rheumatic Diseases, doi:10.1136/ard.2010.138966. Abstract
Aquilante, C et al. (2011) Influence of SLCO1B1 Polymorphisms on the Drug-Drug Interaction Between Darunavir/Ritonavir and Pravastatin. Journal of Clinical Pharmacology, doi:10.1177/0091270011427907. Abstract
Bae, J et al. (2011) Association between polymorphisms of TAL1 gene and schizophrenia in a Korean population. Psychatric Genetics, doi:10.1097/YPG.0b013e328345464b. Abstract
Bae, J et al. (2011) The Genetic Effect of Copy Number Variations on the Risk of Type 2 Diabetes in a Korean Population. PLoS ONE, 6(4):e19091, doi:10.1371/journal.pone.0019091. Abstract
Bakke, P et al. (2011) Candidate genes for COPD in two large data sets. European Respiratory Journal, 37(2):255-263, doi: 10.1183/?09031936.00091709. Abstract
Bossini-Castillo, L et al. (2011) A GWAS follow-up study reveals the association of IL12RB2 gene with Systemic Sclerosis in Caucasian populations. Human Molecular Genetics, doi:10.1093/hmg/ddr522. Abstract
Bulayeva, K et al. (2011) Mapping Genes Related to Early Onset Major Depressive Disorder in Dagestan Genetic Isolates. Turkish Journal of Psychiatry. Abstract
Bunyavanich, S et al. (2011) Gene-by-environment effect of house dust mite on purinergic receptor P2Y12 (P2RY12) and lung function in children with asthma. Clinical and Experimental Allergy, doi:10.1111/j.1365-2222.2011.03874.x. Abstract
Bunyavanich, S et al. (2011) Thymic stromal lymphopoietin (TSLP) is associated with allergic rhinitis in children with asthma. Clinical and Molecular Allergy, doi:10.1186/1476-7961-9-1. Abstract
C?liz, R et al. (2011) The C677T polymorphism in the MTHFR gene is associated with the toxicity of methotrexate in a Spanish rheumatoid arthritis population. Scandinavian Journal of Rheumatology, doi:10.3109/03009742.2011.617312. Abstract
Cantor, R et al. (2011) Detecting rare variant associations: methods for testing haplotypes and multiallelic genotypes. Genetic Epidemiology, 35(Suppl. 1):S85-S91, doi:10.1002/gepi.20656. Abstract
Carlsten, C et al. (2011) GSTP1 polymorphism modifies risk for incident asthma associated with nitrogen dioxide in a high-risk birth cohort. Occupational and Environmental Medicine, doi:10.1136/oem.2010.063560. Abstract
Carrol, E et al. (2011) The IL1RN Promoter rs4251961 Correlates with IL-1 Receptor Antagonist Concentrations in Human Infection and Is Differentially Regulated by GATA-1. Journal of Immunology, doi:10.4049/?jimmunol.1002402. Abstract
Chen, C et al. (2011) Association study of catechol-O-methyltransferase gene polymorphisms with schizophrenia and psychopathological symptoms in Han Chinese. Genes, Brain, and Behavior, doi:10.1111/j.1601-183X.2011.00670.x. Abstract
Chen, J et al. (2011) Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts. American Journal of Human Genetics, 88(6):827-838, doi:10.1016/j.ajhg.2011.05.008. Abstract
Chen, J et al. (2011) Susceptibility Locus for Lung Cancer at 15q25.1 Is Not Associated with Risk of Pancreatic Cancer. Pancreas, 40(6):872-875, doi:10.1097/MPA.0b013e318219dafe. Abstract
Chen, Y et al. (2011) Copy Number Variations at the Prader?Willi Syndrome Region on Chromosome 15 and associations with Obesity in Whites. Obesity, 19(6):1229-1234, doi:10.1038/oby.2010.323. Abstract
Cheong, H et al. (2011) Screening of genetic variations of SLC15A2, SLC22A1, SLC22A2 and SLC22A6 genes. Journal of Human Genetics, 56:666-670, doi:10.1038/jhg.2011.77. Abstract
Christensen, G & Lambert, C (2011) Search for compound heterozygous effects in exome sequence of unrelated subjects. BMC Proceedings, 5(Suppl 9):S95, doi: 10.1186/1753-6561-5-S9-S95. Abstract
Chung, W et al. (2011) Association of Toll-Like Receptor 5 Gene Polymorphism with Susceptibility to Ossification of the Posterior Longitudinal Ligament of the Spine in Korean Population. Journal of Korean Neurosurgical Society, 49:8-12, 10.3340/jkns.2011.49.1.8. Abstract
De Luca, V et al. (2011) Genetic interactions in the adrenergic system genes: analysis of antipsychotic-induced weight gain. Human Psychopharmacology: Clinical & Experimental, doi:10.1002/hup.1219. Abstract
Delgado-Lista, J et al. (2011) Gene variations of nitric oxide synthase regulate the effects of a saturated fat rich meal on endothelial function. Clinical Nutrition, 30(2):234-238, doi:10.1016/j.clnu.2010.08.006. Abstract
Doehring, A et al. (2011) Role of nucleoside transporters SLC28A2/3 and SLC29A1/2 genetics in ribavirin therapy: protection against anemia in patients with chronic hepatitis C. Pharmacogenetics and Genomics, doi:10.1097/FPC.0b013e32834412e7. Abstract
Eder, L et al. (2011) IL13 gene polymorphism is a marker for psoriatic arthritis among psoriasis patients. Annals of the Rheumatic Diseases, doi:10.1136/ard.2010.147421. Abstract
Eun, Y et al. (2011) Associations between promoter polymorphism -106A/G of interleukin-11 receptor alpha and papillary thyroid cancer in Korean population. Surgery, doi:10.1016/j.surg.2011.07.014. Abstract
Favis, R et al. (2011) Genetic variation associated with bortezomib-induced perpheral neuropathy. Pharmacogenetics and Genomics, doi:10.1097/FPC.0b013e3283436b45. Abstract
Fernandez, T et al. (2011) Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism. Biological Psychiatry, doi:10.1016/j.biopsych.2011.09.034. Abstract
Gan-Or, Z et al. (2011) The Age at Motor Symptoms Onset in LRRK2-Associated Parkinson's Disease is Affected by a Variation in the MAPT Locus: A Possible Interaction. Journal of Molecular Neuroscience, doi:10.1007/s12031-011-9641-0. Abstract
Garaulet, M et al. (2011) PPAR? Pro12Ala interacts with fat intake for obesity and weight loss in a behavioural treatment based on the Mediterranean diet. Molecular Nutrition & Food Research, 55(12):1771-1779, doi:10.1002/mnfr.201100437. Abstract
Gautam, P et al. (2011) Spectrum of large copy number variations in 26 diverse Indian populations: potential involvement in phenotypic diversity. Human Genetics, doi:10.1007/s00439-011-1050-5. Abstract
Go, Y et al. (2011) Genome-Wide Association Study Among Four Horse Breeds Identifies a Common Haplotype Associated with the In Vitro CD3+ T Cell Susceptibility/Resistance to Equine Arteritis Virus Infection. Journal of Virology, doi:10.1128/JVI.06068-11. Abstract
Goodarzi, M et al. (2011) Replication of association of a novel insulin receptor gene polymorphism with polycystic ovary syndrome. Fertility and Sterility, doi:10.1016/j.fertnstert.2011.01.015. Abstract
Gorlova, O et al. (2011) Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy. PLoS Genetics, 7(7):e1002178, doi:10.1371/journal.pgen.1002178. Abstract
Greenbaum, L et al. (2011) Support for association of HSPG2 with tardive dyskinesia in Caucasian populations. Pharmacogenomics Journal, doi:10.1038/tpj.2011.32. Abstract
Hallman, D et al. (2011) The association of variants in the FTO gene with longitudinal body mass index profiles in non-Hispanic white children and adolescents. International Journal of Obesity, doi:10.1038/ijo.2011.190. Abstract
Hamza, T et al. (2011) Genome-Wide Gene-Environment Study Identifies Glutamate Receptor Gene GRIN2A as a Parkinson's Disease Modifier Gene via Interaction with Coffee. PLoS Genetics, 7(8):e1002237, doi:10.1371/journal.pgen.1002237. Abstract
Havik, B et al. (2011) The Complement Control-Related Genes CSMD1 and CSMD2 Associate to Schizophrenia. Biological Psychiatry, doi:10.1016/j.biopsych.2011.01.030. Abstract
Hersh, C et al. (2011) SOX5 is a Candidate Gene for COPD Susceptibility and is Necessary for Lung Development. American Journal of Respiratory and Critical Care Medicine, doi:10.1164/rccm.201010-1751OC. Abstract
Hickey, J et al. (2011) Factors Affecting the Accuracy of Genotype Imputation in Populations from Several Maize Breeding Programs. Crop Science, 52(2):654-663, doi:10.2135/cropsci2011.07.0358. Abstract
Himes, B et al. (2011) Association of SERPINE2 with Asthma. CHEST, doi:10.1378/chest.10-2973. Abstract
Hong, I et al. (2011) Association of the Oncostatin M Receptor Gene Polymorphisms with Papillary Thyroid Cancer in the Korean Population. Clinical & Experimental Otorhinolaryngology, 4(4):193-198, doi:10.3342/ceo.2011.4.4.193. Abstract
Hosking, F et al. (2011) Search for inherited susceptibility to radiation-associated meningioma by genomewide SNP linkage disequilibrium mapping. British Journal of Cancer, 104:1049-1054, doi:10.1038/bjc.2011.61. Abstract
Janicki, P et al. (2011) Genome-wide Association Study Using Pooled DNA to Identify Candidate Markers Mediating Susceptibility to Postoperative Nausea and Vomiting. Anesthesiology, doi:10.1097/ALN.0b013e31821810c7. Abstract
Jones, M et al. (2011) Metabolic and cardiovascular genes in polycystic ovary syndrome: A candidate-wide association study (CWAS). Steroids, doi:10.1016/j.steroids.2011.12.005. Abstract
Juko-Pecirep, I et al. (2011) Evaluation of Fanconi anaemia genes FANCA, FANCC and FANCL in cervical cancer susceptibility. Gynecologic Oncology, 122(2):377-381, doi:10.1016/j.ygyno.2011.04.014. Abstract
Kerner, B et al. (2011) Genome-Wide Association Study in Bipolar Patients Stratified by Co-Morbidity. PLoS ONE, 6(12):e28477, doi:10.1371/journal.pone.0028477. Abstract
Kim, D et al. (2011) Association between interleukin 15 receptor, alpha (IL15RA) polymorphism and Korean patients with ossification of the posterior longitudinal ligament. Cytokine, doi:10.1016/j.cyto.2011.05.016. Abstract
Kim, D et al. (2011) A Promoter polymorphism (rs17222919, ?1316T/G) of ALOX5AP is associated with intracerebral hemorrhage in Korean population. Prostaglandins, Leukotrienes and Essential Fatty Acids, doi:10.1016/j.plefa.2011.07.004. Abstract
Kim, H et al. (2011) A replication study of genome-wide CNV association for hepatic biomarkers identifies nine genes associated with liver function. BMB Reports, 44(9):578-583. Abstract
Kim, H et al. (2011) Polymorphisms of IGFI contribute to the development of ischemic stroke. Experimental and Therapeutic Medicine, 3(1):93-98, doi:10.3892/etm.2011.372. Abstract
Kim, S et al. (2011) A missense polymorphism (rs11895564, Ala380Thr) of integrin alpha 6 is associated with the development and progression of papillary thyroid carcinoma in Korean population. Journal of the Korean Surgical Society, 81(5):308-315, doi:10.4174/jkss.2011.81.5.308. Abstract
Kim, S et al. (2011) Associations of EPHB1 polymorphisms with hepatocellular carcinoma in the Korean population. Human Immunology, doi:10.1016/j.humimm.2011.06.014. Abstract
Kim, S et al. (2011) Coding Single-Nucleotide Polymorphisms of Interleukin-1 Gene Cluster Are Not Associated with Kawasaki Disease in the Korean Population. Pediatric Cardiology, doi:10.1007/s00246-010-9858-7. Abstract
Kim, S et al. (2011) Lack of association between promoter polymorphisms of HLA-G gene and rheumatoid arthritis in Korean population. Rheumatology International, doi:10.1007/s00296-010-1735-4. Abstract
Kim, S et al. (2011) Matrix Metalloproteinase-3 Gene Polymorphisms Are Associated with Ischemic Stroke. Journal of Interferon & Cytokine Research, doi:10.1089/jir.2011.0022. Abstract
Kim, S et al. (2011) Promoter polymorphisms of the HLA-G gene, but not the HLA-E and HLA-F genes, is associated with non-segmental vitiligo patients in the Korean population. Archives of Dermatological Research, doi:10.1007/s00403-011-1160-x. Abstract
Landgren, S et al. (2011) The Ghrelin Signalling System Is Involved in the Consumption of Sweets. PLoS ONE, 6(3):e18170, doi:10.1371/journal.pone.0018170. Abstract
Landwehr, R et al. (2011) Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer. Breast Cancer Research and Treatment, doi:10.1007/s10549-011-1681-1. Abstract
Lange, N et al. (2011) Comprehensive genetic assessment of a functional TLR9 promoter polymorphism: no replicable association with asthma or asthma-related phenotypes. BMC Medical Genetics, doi:10.1186/1471-2350-12-26. Abstract
Lau, D et al. (2011) HLA-G polymorphisms, genetic susceptibility, and clinical outcome in childhood neuroblastoma. Tissue Antigens, doi:10.1111/j.1399-0039.2011.01781.x. Abstract
Lett, T et al. (2011) ANK3, CACNA1C and ZNF804A gene variants in bipolar disorders and psychosis subphenotype. World Journal of Biological Psychiatry, 12(5):392-397, doi:10.3109/15622975.2011.564655. Abstract
Li, W et al. (2011) Association study of RELN polymorphisms with schizophrenia in Han Chinese population. Progress in Neuro-Psychopharmacology and Biological Psychiatry, doi:10.1016/j.pnpbp.2011.04.007. Abstract
Lim, Y et al. (2011) Association between TGFBR2 Gene Polymorphism (rs2228048, Asn389Asn) and Intracerebral Hemorrhage in Korean Population. Immunological Investigations, doi:10.3109/08820139.2011.559498. Abstract
Lin, C et al. (2011) Propensity score analysis in the Genetic Analysis Workshop 17 simulated data set on independent individuals. BMC Proceedings, 5(Suppl 9):s71, doi:10.1186/1753-6561-5-S9-S71. Abstract
Lin, M et al. (2011) Genetic variations in the transforming growth factor beta pathway as predictors of survival in advanced non-small cell lung cancer. Carcinogenesis, doi:10.1093/carcin/bgr067. Abstract
Liu, W et al. (2011) Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development. PLoS ONE, 6(7):e22542, doi:10.1371/journal.pone.0022542. Abstract
Liu, X et al. (2011) 2p15?p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders. European Journal of Human Genetics, doi:10.1038/ejhg.2011.112. Abstract
Meyer, A et al. (2011) Apoptosis gene polymorphisms and risk of prostate cancer: A hospital-based study of German patients treated with brachytherapy. Urologic Oncology: Seminars and Original Investigations, doi:10.1016/j.urolonc.2010.09.011. Abstract
Millan Sanchez, M et al. (2011) BDNF polymorphism predicts the rate of decline in skilled task performance and hippocampal volume in healthy individuals. Translational Psychiatry, doi:10.1038/tp.2011.47. Abstract
Murphy, T et al. (2011) Risk and protective genetic variants in suicidal behaviour: association with SLC1A2, SLC1A3, 5-HTR1B &NTRK2 polymorphisms. Behavioral and Brain Functions, 7:22, doi:10.1186/1744-9081-7-22. Abstract
Nair, A et al. (2011) Association analysis of common variants in FOXO3 with type 2 diabetes in a South Indian Dravidian population. Gene, doi:10.1016/j.gene.2011.09.032. Abstract
Oh, I et al. (2011) Association of CFTR gene polymorphisms with papillary thyroid cancer. Oncology Letters, doi:10.3892/ol.2011.479. Abstract
Olsson, S et al. (2011) Genetic variation in complement component C3 shows association with ischaemic stroke. European Journal of Neurology, doi:10.1111/j.1468-1331.2011.03377.x. Abstract
Olsson, S et al. (2011) No evidence for an association between genetic variation at the MMP2 and MMP9 loci and aneurysmal subarachnoid haemorrhage. Journal of Neurology, doi:10.1007/s00415-011-6157-z. Abstract
Park, H et al. (2011) A polymorphism (rs2073287) of glutamate receptor, metabotropic 1 (GRM1) is associated with an increased risk of stroke in Korean population. Molecular & Cellular Toxicology, 7(3):243-250, doi:10.1007/s13273-011-0030-0. Abstract
Park, H et al. (2011) Polymorphisms of Integrin, Alpha 6 Contribute to the Development and Neurologic Symptoms of Intracerebral Hemorrhage in Korean Population. Journal of Korean Neurosurgical Society, 50(4):293-298. Abstract
Park, S et al. (2011) Impact of IL2 and IL2RB Genetic Polymorphisms in Kidney Transplantation. Transplantation Proceedings, doi:10.1016/j.transproceed.2011.06.014. Abstract
Park, T et al. (2011) Possible Association of SRC22A2 Polymorphisms with Aspirin-Intolerant Asthma. International Archives of Allergy and Immunology, 155:395?402, doi:10.1159/000321267. Abstract
Papassotiropoulos, A et al. (2011) A genome-wide survey and functional brain imaging study identify CTNNBL1 as a memory-related geneA genome-wide survey and functional brain imaging study identify CTNNBL1 as a memory-related gene. Molecular Psychiatry, doi:10.1038/mp.2011.148. Abstract
Permuth-Wey, J et al. (2011) MicroRNA Processing and Binding Site Polymorphisms are not Replicated in the Ovarian Cancer Association Consortium. Cancer Epidemiology Biomarkers and Prevention, doi:10.1158/1055-9965.EPI-11-0397. Abstract
Pinsonneault, J et al. (2011) Dopamine Transporter Gene Variant Affecting Expression in Human Brain is Associated with Bipolar Disorder. Neuropsychopharmacology,36:1644-1655, doi:10.1038/npp.2011.45. Abstract
Pollock, R et al. (2011) Differential major histocompatibility complex class I chain-related A allele associations with skin and joint manifestations of psoriatic disease. Tissue Antigens, doi:10.1111/j.1399-0039.2011.01670.x. Abstract
Qu, C et al. (2011) Cost?effective prediction of gender-labeling errors and estimation of gender-labeling error rates in candidate-gene association studies. Frontiers in Statistical Genetics and Methodology, doi:10.3389/fgene.2011.00031. Abstract
Ramsey, T et al. (2011) Evidence for a SULT4A1 haplotype correlating with baseline psychopathology and atypical antipsychotic response. Pharmacogenomics, 12(4):471-480, doi:10.2217/pgs.10.205. Abstract
Ramu, P et al. (2011) Candidate Gene Polymorphisms of Renin Angiotensin System and Essential Hypertension in a South Indian Tamilian Population. International Journal of Human Genetics, 11(1):31-40. Abstract
Rainero, I et al. (2011) Evidence for an association between migraine and the hypocretin receptor 1 gene. Journal of Headache and Pain, doi:10.1007/s10194-011-0314-8. Abstract
Rempel, J et al. (2011) The potential influence of KIR cluster profiles on disease patterns of Canadian Aboriginals and other indigenous peoples of the Americas. European Journal of Human Genetics, 19:1276-1280, doi:10.1038/ejhg.2011.114. Abstract
Repnik, K et al. (2011) Haplotype in the IBD5 region is associated with refractory Crohn's disease in Slovenian patients and modulates expression of the SLC22A5 gene. Journal of Gastroenterology, 46(9):1081-1091, doi:10.1007/s00535-011-0426-6. Abstract
Rincon, G et al. (2011) Comparison of buccal and blood-derived canine DNA either native or whole genome amplified, for arraybased genome-wide association studies. BMC Research Notes, 4:226, doi:10.1186/1756-0500-4-226. Abstract
Rincon, G et al. (2011) Performance of bovine high-density genotyping platforms in Holsteins and Jerseys. Journal of Dairy Science, 94(12):6116-6121, doi:10.3168/jds.2011-4764. Abstract
Rincon, G et al. Polymorphisms in genes in the SREBP1 signalling pathway and SCD are associated with milk fatty acid composition in Holstein cattle. Journal of Dairy Science, doi:10.1017/S002202991100080X. Abstract
Saif-Ali, R et al. (2011) Association of Hepatocyte Nuclear Factor 4 Alpha Polymorphisms with Type 2 Diabetes With or Without Metabolic Syndrome in Malaysia. Biochemical Genetics, doi:10.1007/s10528-011-9472-2. Abstract
Saif-Ali, R et al. (2011) Hepatocyte nuclear factor 4 alpha P2 promoter variants associate with insulin resistance. Acta Biochimica Polonica. Abstract
Saif-Ali, R et al. (2011) KCNQ1 Haplotypes Associate with Type 2 Diabetes in Malaysian Chinese Subjects. International Journal of Molecular Sciences, 12(9):5705-5718, doi:10.3390/ijms12095705. Abstract
Salinas-S?nchez, A et al. (2011) GSTT1, GSTM1, and CYP1B1 gene polymorphisms and susceptibility to sporadic renal cell cancer. Urologic Oncology: Seminars and Original Investigations, doi:10.1016/j.urolonc.2010.10.001. Abstract
Sanchez, M et al. (2011) BDNF polymorphism predicts the rate of decline in skilled task performance and hippocampal volume in healthy individuals. Translational Psychiatry, 1(51), doi:10.1038/tp.2011.47. Abstract
Sehrawat, B et al. (2011) Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility. Human Genetics, doi:10.1007/s00439-011-0973-1. Abstract
Shen, G et al. (2011) Human genetic variants of homologous recombination repair genes first found to be associated with Epstein?Barr virus antibody titers in healthy Cantonese. International Journal of Cancer, doi:10.1002/ijc.25759. Abstract
Stanescu, H et al. (2011) Risk HLA-DQA1 and PLA2R1 Alleles in Idiopathic Membranous Nephropathy. The New England Journal of Medicine, 364:616-26. Abstract
Stoltenberg, S et al. (2011) Associations among types of impulsivity, substance use problems and Neurexin-3 polymorphisms. Drug and Alcohol Dependence, doi:10.1016/j.drugalcdep.2011.05.025. Abstract
Szczypiorska, M et al. (2011) ERAP1 polymorphisms and haplotypes are associated with ankylosing spondylitis susceptibility and functional severity in a Spanish population. Rheumatology, doi:10.1093/rheumatology/ker229. Abstract
Taylor, K et al. (2011) Risk Alleles for Systemic Lupus Erythematosus in a Large Case-Control Collection and Associations with Clinical Subphenotypes. PLoS Genetics, 7(2):e1001311, doi:10.1371/journal.pgen.1001311. Abstract
Tayo, B et al. (2011) Genetic Background of Patients from a University Medical Center in Manhattan: Implications for Personalized Medicine. PLoS ONE, 6(5):e19166, doi:10.1371/journal.pone.0019166. Abstract
Tejeodr, M et al. (2011) New contributions to the study of common double mutants in the human LDL receptor gene. Naturwissenschaften, doi:10.1007/s00114-011-0845-5. Abstract
Teltsh, O et al. (2011) Oxytocin and vasopressin genes are significantly associated with schizophrenia in a large Arab-Israeli pedigree. International Journal of Neuropsychopharmacology, doi:10.1017/S1461145711001374. Abstract
Tjarnlund-Wolf, A et al. (2011) No evidence for an association between genetic variation at the SERPINI1 locus and ischemic stroke. Journal of Neurology, doi:10.1007/s00415-011-6022-0. Abstract
Van Steen, K (2011) Perspectives on genome-wide multi-stage family-based association studies. Statistics in Medicine, doi:10.1002/sim.4259. Abstract
Visscher, H et al. (2011) Pharmacogenomic Prediction of Anthracycline-Induced Cardiotoxicity in Children. Journal of Clinical Oncology, doi:10.1200/JCO.2010.34.3467. Abstract
Wang, D et al. (2011) Human N-acetyltransferase 1 *10 and *11 alleles increase protein expression through distinct mechanisms and associate with sulfamethoxazole-induced hypersensitivity. Pharmacogenetics and Genomics, 21(10):652-664, doi:10.1097/FPC.0b013e3283498ee9. Abstract
Wang, K et al. (2011) Genome-wide association analysis of age at onset in schizophrenia in a European-American sample. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, doi:10.1002/ajmg.b.31209. Abstract
Wang, K et al. (2011) Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms. Journal of Neural Transmission, doi:10.1007/s00702-011-0729-z. Abstract
Wang, K et al. (2011) A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence. Journal of Psychiatric Research, doi:10.1016/j.jpsychires.2011.06.005. Abstract
Wickramasinghe, S et al. (2011) Variants in the pregnancy-associated plasma protein-A2 gene on Bos taurus autosome 16 are associated with daughter calving ease and productive life in Holstein cattle. Journal of Dairy Science, 94(3):1552-1558, doi:10.3168/jds.2010-3237. Abstract
Wu, X et al. (2011) A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23. Human Molecular Genetics, doi:10.1093/hmg/ddr479. Abstract
Yesavage, J et al. (2011) Circadian Clock Gene Polymorphisms and Sleep?Wake Disturbance in Alzheimer Disease. Journal of Geratric Psychiatry, doi:10.1097/JGP.0b013e31820d92b2. Abstract
Yin, J et al. Genetic Variants in TGF-? Pathway Are Associated with Ovarian Cancer Risk. PLoS ONE, 6(9):e25559, doi:10.1371/journal.pone.0025559. Abstract
Yin, R et al. (2011) Apolipoprotein A1/C3/A5 haplotypes and serum lipid levels. Lipids in Health and Disease, 10:140, doi:10.1186/1476-511X-10-140. Abstract
Yin, R et al. (2011) Interactions of the Apolipoprotein A5 Gene Polymorphisms and Alcohol Consumption on Serum Lipid Levels. PLoS ONE, 6(3):e17954. doi:10.1371/journal.pone.0017954. Abstract
Yoo, K et al. (2011) Association of IL10, IL10RA, and IL10RB Polymorphisms with Benign Prostate Hyperplasia in Korean Population. Journal of Korean Medical Science, 26(5):659-664, doi:10.3346/jkms.2011.26.5.659. Abstract

2010 Publications

Alonso-Villaverde, C et al. (2010) Host?pathogen interactions in the development of metabolic disturbances and atherosclerosis in HIV infection: The role of CCL2 genetic variants. Cytokine, 51(3):251-258, doi:10.1016/j.cyto.2010.05.008. Abstract
Alpman, A et al. (2010) Multidrug Resistance 1 (MDR1) Gene Polymorphisms in Childhood Drug-Resistant Epilepsy. Journal of Child Neurology, 0: 0883073810368997v1. Abstract
Andersson, N et al. (2010) A variant near the interleukin-6 gene is associated with fat mass in Caucasian men. International Journal of Obesity, doi:10.1038/ijo.2010.27. Abstract
Aston, K et al. (2010) Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. Human Reproduction, 25(6):1383-1397, doi:10.1093/humrep/deq081. Abstract
Bae, J et al. (2010) Identification of Genome-wide Copy Number Variations and a Family-based Association Study of Avellino Corneal Dystrophy. Ophthalmology, doi:10.1016/j.ophtha.2009.11.021. Abstract
Balasubbu, S et al. (2010) Association Analysis of Nine Candidate Gene Polymorphisms in Indian Patients with Type 2 Diabetic Retinopathy. BMC Medical Genetics, 11:158, doi:10.1186/1471-2350-11-158. Abstract
Ban, J et al. (2010) Association between polymorphisms of matrix metalloproteinase 11 (MMP-11) and Kawasaki disease in the Korean population. Life Sciences, 86(19-20): 756-759. Abstract
Belisle, S et al. (2010) IL-2 and IL-10 gene polymorphisms are associated with respiratory tract infection and may modulate the effect of vitamin E on lower respiratory tract infections in elderly nursing home residents. American Journal of Clinical Nutrition, doi:10.3945/ajcn.2010.29207. Abstract
Blaut, M et al. (2010) TOPBP1 missense variant Arg309Cys and breast cancer in a German hospital-based case-control study. Journal of Negative Results in Biomedicine, doi:10.1186/1477-5751-9-9. Abstract
Burdick, K et al. (2010) Genetic Variation in the MET Proto-oncogene is Associated with Schizophrenia and General Cognitive Ability. American Journal of Psychiatry, 167(4):436-443, doi:10.1176/appi.ajp.2009.09050615. Abstract
Buxens, A et al. (2010) Can we predict top-level sports performance in power vs endurance events? A genetic approach. Scandinavian Journal of Medicine & Science in Sports, doi:10.1111/j.1600-0838.2009.01079.x. Abstract
Cathomas, F et al. (2010) Fine-mapping of the brain-derived neurotrophic factor (BDNF) gene supports an association of the Val66Met polymorphism with episodic memory. International Journal of Neuropsychopharmacology, doi:10.1017/S146114571000051. Abstract
Castelar, L et al. (2010) Interleukin-18 and interferon-gamma polymorphisms in Brazilian human immunodeficiency virus-1-infected patients presenting with lipodystrophy syndrome. Tissue Antigens, doi:10.1111/j.1399-0039.2010.01471.x. Abstract
Cenarro, A et al. (2010) A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22. Clinical Genetics, doi:10.1111/j.1399-0004.2010.01485.x. Abstract
Crawford, K et al. (2010) Pharmacokinetic/Pharmacodynamic Modeling of the Antiretroviral Activity of the CCR5 Antagonist Vicriviroc in Treatment Experienced HIV-Infected Subjects (ACTG Protocol 5211). JAIDS Journal of Acquired Deficiency Syndromes, 53(5):598-605, doi:10.1097/QAI.0b013e3181c9caac. Abstract
Daborg, J et al. (2010) Association of the RAGE G82S polymorphism with Alzheimer's disease. Journal of Neural Transmission, doi:10.1007/s00702-010-0437-0. Abstract
Delgado-Lista, J et al. (2010) ABCA1 Gene Variants Regulate Postprandial Lipid Metabolism in Healthy Men. Arteriosclerosis, Thrombosis, and Vascular Biology, doi:10.1161/ATVBAHA.109.202580. Abstract
Dellinger, A et al. (2010) Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays. Nucleic Acids Research, doi:10.1093/nar/gkq040. Abstract
Dillon, S et al. (2010) Allelic Variation in Cell Wall Candidate Genes Affecting Solid Wood Properties in Natural Populations and Land Races of Pinus radiata. Genetics, doi:10.1534/genetics.110.116582. Abstract
Doshi, A et al. (2010) A Promoter Polymorphism of the Endothelial Nitric Oxide Synthase Gene is Associated With Reduced mRNA and Protein Expression in Failing Human Myocardium. Journal of Cardiac Failure. Abstract
Earl, J et al. (2010) Single-Nucleotide Polymorphism (SNP) Analysis to Associate Cancer Risk. Methods in Molecular Biology, Cancer Gene Profiling, doi:10.1007/978-1-59745-545-9. Abstract
Emanuelli, F et al. (2010) A candidate gene association study on muscat flavor in grapevine (Vitis vinifera L.). BMC Plant Biology, 10:241, doi:10.1186/1471-2229-10-241. Abstract
Fallin, M et al. (2010) Linkage and association on 8p21.2-p21.1 in schizophrenia. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 156(2):188-197, doi:10.1002/ajmg.b.31154. Abstract
Figg, W et al. (2010) A Phase I Clinical Study of High Dose Ketoconazole Plus Weekly Docetaxel for Metastatic Castration Resistant Prostate Cancer. Journal of Urology, 183(6):2219-2226, doi:10.1016/j.juro.2010.02.020. Abstract
Garaulet, M et al. (2010) CLOCK gene is implicated in weight reduction in obese patients participating in a dietary programme based on the Mediterranean diet. International Journal of Obesity, doi:10.1038/ijo.2009.255. Abstract
Gaudet, M et al. (2010) Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer. PLoS Genetics, 6(10):e1001183, doi:10.1371/journal.pgen.1001183. Abstract
Greenbaum, L et al. (2010) Evidence for association of the GLI2 gene with tardive dyskinesia in patients with chronic schizophrenia. Movement Disorders, 25(16):2809-2817, doi:10.1002/mds.23377. Abstract
Guo, Y et al. (2010) Genome-Wide Association Study Identifies ALDH7A1 as a Novel Susceptibility Gene for Osteoporosis. PLoS Genetics, 6(1):e1000806, doi:10.1371/journal.pgen.1000806. Abstract
Hahn, W et al. (2010) Linkage and Association Study of Neurotrophins and their receptors as Novel Susceptibility Genes for Childhood IgA Nephropathy. Pediatric Research, doi:10.1203/PDR.0b013e31820b9365. Abstract
Hamza, T et al. (2010) Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. Nature Genetics, doi:10.1038/ng.642. Abstract
Haritunians, T et al. (2010) Genetic Predictors of Medically Refractory Ulcerative Colitis. Inflammatory Bowel Syndrome, 16(11):1830-40, doi:10.1002/ibd.21293. Abstract
Hashikata, H et al. (2010) Confirmation of an Association of Single-Nucleotide Polymorphism rs1333040 on 9p21 With Familial and Sporadic Intracranial Aneurysms in Japanese Patients. Stroke, doi:10.1161/STROKEAHA.109.576694. Abstract
Hellard, S et al. (2010) Polymorphisms in SREBF1 and SREBF2, two antipsychotic-activated transcription factors controlling cellular lipogenesis, are associated with schizophrenia in German and Scandinavian samples. Molecular Psychiatry, 15:463-472, doi:10.1038/mp.2008.110. Abstract
Hersh, C et al. (2010) Multi-Study Fine Mapping of Chromosome 2q Identifies XRCC5 as a COPD Susceptibility Gene. Respiratory and Critical Care Medicine, doi:10.1164/rccm.200910-1586OC. Abstract
Himes, B et al. (2010) Asthma-susceptibility variants identified using probands in case-control and family-based analyses. BMC Medical Genetics, 11:122, doi:10.1186/1471-2350-11-122. Abstract
Hong, H et al. (2010) Assessing sources of inconsistencies in genotypes and their effects on genome-wide association studies with HapMap samples. Parmacogenomics Journal, doi:10.1038/tpj.2010.24. Abstract
Hong, H et al. (2010) Evaluating variations of genotype calling: a potential source of spurious associations in genome-wide association studies. Journal of Genetics, 89(1):55-64. Abstract
Hosking, F et al. (2010) MHC variation and risk of childhood B-cell precursor acute lymphoblastic leukemia. Blood, 117(5):1633-1640, doi:10.1182/blood-2010-08-301598. Abstract
Huhtaniemi, I et al. (2010) Effect of Polymorphisms in Selected Genes Involved in Pituitary-Testicular Function on Reproductive Hormones and Phenotype in Aging Men. Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2009-2071. Abstract
Hung, S et al. (2010) Common risk allele in aromatic antiepileptic-drug induced Stevens?Johnson syndrome and toxic epidermal necrolysis in Han Chinese. Pharmacogenomics, Future Medicine, doi:10.2217/pgs.09.162. Abstract
Hunninghake, G et al. (2010) TSLP polymorphisms are associated with asthma in a sex-specific fashion. Allergy, doi:10.1111/j.1398-9995.2010.02415.x. Abstract
Jeong, T et al. (2010) Association of UVRAG polymorphisms with susceptibility to non-segmental vitiligo in a Korean sample. Experimental Dermatology, doi:10.1111/j.1600-0625.2009.01039.x. Abstract
Juhasz, G et al. (2010) Risk-Taking Behavior in a Gambling Task Associated with Variations in the Tryptophan Hydroxylase 2 Gene: Relevance to Psychiatric Disorders. Neuropsychopharmacology, 35:1109-1119, doi:10.1038/npp.2009.216. Abstract
Jung, M et al. (2010) The interleukin-1 family gene polymorphisms in Korean patients with rheumatoid arthritis. Scandinavian Journal of Rheumatology, 39(3):190-196, doi:10.3109/03009740903447028. Abstract
Junyent, M et al. (2010) A composite scoring of genotypes discriminates coronary heart disease risk beyond conventional risk factors in the Boston Puerto Rican Health Study. Nutrition, Metabolism & Cardiovascular Diseases, 20(3):157-164, doi:10.1016/j.numecd.2009.03.016. Abstract
Kaitz, M et al. (2010) Mothers' dopamine receptor polymorphism modulates the relation between infant fussiness and sensitive parenting. Developmental Psychobiology, 52(2):149-157, doi:10.1002/dev.20423. Abstract
Kang, S et al. (2010) Notch Homolog 4 Polymorphism and Kawasaki Disease. Indian Journal of Pediatrics, doi:10.1007/s12098-010-0317-5. Abstract
Kang, S et al. (2010) A Promoter SNP (rs1800682, -670C/T) of FAS Is Associated with Stroke in a Korean Population. Genomics & Informatics, 8(4):206-2011. Abstract
Karns, R et al. (2010) Replication of genetic variants from genome-wide association studies with metabolic traits in an island population of the Adriatic coast of Croatia. European Journal of Human Genetics, doi:10.1038/ejhg.2010.178. Abstract
Kesavan, R et al. (2010) Influence of CYP2C9 and CYP2C19 genetic polymorphisms on phenytoin-induced neurological toxicity in Indian epileptic patients. European Journal of Clinical Pharmacology, 66(7):689-696, doi:10.1007/s00228-010-0817-2. Abstract
Kim, H et al. (2010) Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT. BMB Reports, 43(8):547-553. Abstract
Kim, H et al. (2010) Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica. Neurobiology of Disease, 37(2):349-355, doi:10.1016/j.nbd.2009.10.013. Abstract
Kim, H et al. (2010) RNesoea rachs asrtiocleciation between polymorphisms of WNT2 and schizophrenia in a Korean population. BMC Medical Genetics, 11:78, doi:10.1186/1471-2350-11-78. Abstract
Kim, J et al. (2010) Putative association of SMAPIL polymorphisms with risk of aspirin intolerance in asthmatics. Journal of Asthma, doi:10.3109/02770903.2010.514637. Abstract
Kim, S et al. (2010) Association of Niemann-Pick disease, type C2 (NPC2) polymorphisms with obesity in Korean population. Molecular & Cellular Toxicology, 6(4):391-396, doi:10.1007/s13273-010-0052-z. Abstract
Kim, Y et al. (2010) Association of the CD28/CTLA4/ICOS polymorphisms with susceptibility to rheumatoid arthritis. Clinical Chemistry and Laboratory Medicine, 48(3):345-53. Abstract
Ladhani, S et al. (2010) Association between Single-Nucleotide Polymorphisms in Mal/TIRAP and Interleukin-10 Genes and Susceptibility to Invasive Haemophilus influenzae Serotype b Infection in Immunized Children. Clinical Infectious Diseases, 51(7):761-767, doi:10.1086/656236. Abstract
Landgren, S et al. (2010) Genetic Variation of the Ghrelin Signaling System in Females With Severe Alcohol Dependence. Alcoholism: Clinical and Experimental Research, doi:10.1111/j.1530-0277.2010.01236.x. Abstract
Lai, C et al. (2010) MAT1A variants are associated with hypertension, stroke, and markers of DNA damage and are modulated by plasma vitamin B-6 and folate. American Journal of Clinical Nutrition, 91(5):1377-1386, doi:10.3945/ajcn.2009.28923. Abstract
Lampreabe, I et al. (2010) Toward Personalized Medicine in Renal Transplantation. Transplantation Proceedings, 42(8):2864-2867, doi:10.1016/j.transproceed.2010.08.009. Abstract
Lee, B et al. (2010) Genome-wide association study of copy number variations associated with pulmonary function measures in Korea Associated Resource (KARE) cohorts. Genomics, doi:10.1016/j.ygeno.2010.11.001. Abstract
Lee, J et al. (2010) Toll-like receptor 1 gene polymorphisms in childhood IgA nephropathy: a case-control study in the Korean population. International Journal of Immunogenetics, doi:10.1111/j.1744-313X.2010.00978.x. Abstract
Levy, H, & Lambert, C et al. (2010) Integration of Genomics with Genetics Molecular Phenotypes for Cystic Fibrosis (CF) Lung Disease. American Journal of Respiratory and Critical Care Medicine, 181:A6577. Abstract
Liang, D et al. (2010) Genetic Variants in MicroRNA Biosynthesis Pathways and Binding Sites Modify Ovarian Cancer Risk, Survival, and Treatment Response. Cancer Research, doi:10.1158/0008-5472.CAN-10-0130. Abstract
Lim, J et al. (2010) Pharmacogenetics of CYP1A2, Novel Polymorphisms and Haplotypes in Three Distinct Asian Populations. Drug Metabolism and Pharmacokinetics, 25(6):616-623, doi:10.2133/dmpk.DMPK-10-SC-051. Abstrac
Lin, J et al. (2010) Energy Balance, the PI3K-AKT-mTOR Pathway Genes, and the Risk of Bladder Cancer. Cancer Prevention Research, doi:10.1158/1940-6207.CAPR-09-0263. Abstract
Lin, J et al. (2010) Genetic Variations in MicroRNA-Related Genes Are Associated with Survival and Recurrence in Patients with Renal Cell Carcinoma. Carcinogenesis, doi:10.1093/carcin/bgq168. Abstract
Londin, E et al. (2010) CoAIMs: A Cost-Effective Panel of Ancestry Informative Markers for Determining Continental Origins. PLoS ONE, 5(10):e13443, doi:10.1371/journal.pone.0013443. Abstract
Lotsch, J et al. (2010) A KCNJ6 (Kir3.2, GIRK2) gene polymorphism modulates opioid effects on analgesia and addiction but not on pupil size. Pharmacogenetics and Genomics, 20(5):291-297, doi:10.1097/FPC.0b013e3283386bda. Abstract
Lu, W et al. (2010) Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study. BMC Medical Genetics, 11:141, doi:10.1186/1471-2350-11-141. Abstract
Magri, C et al. (2010) New Copy Number Variations in Schizophrenia. PLoS ONE, 5(10):e13422, doi:10.1371/journal.pone.0013422. Abstract
MAQC Consortium (2010) The MicroArray Quality Control (MAQC)-II study of common practices for the development and validation of microarray-based predictive models. Nature Biotechnology, doi:10.1038/nbt.1665. Abstract
Maran, S et al. (2010) Association of cadherin superfamily genes and Helicobacter pylori infection among Malays at north-eastern peninsular Malaysia: a preliminary genome wide association study. Journal of Gastroenterology and Hepatology, 25(Suppl. 2):A23-A78. Abstract
Mekli, K et al. (2010) The HTR1A and HTR1B receptor genes influence stress-related information processing. European Neuropsychopharmacology, doi:10.1016/j.euroneuro.2010.06.013. Abstract
Miclaus, K & Lambert, C et al. (2010) Batch effects in the BRLMM genotype calling algorithm influence GWAS results for the Affymetrix 500K array. Pharmacogenomics, 10:336-346, doi:10.1038/tpj.2010.36. Abstract
Miclaus, K & Lambert, C et al. (2010) Variability in GWAS analysis: the impact of genotype calling algorithm inconsistencies. Pharmacogenomics, 10:324-335, doi:10.1038/tpj.2010.46. Abstract
Mizuki, N et al. (2010) Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Beh?et's disease susceptibility loci. Nature Genetics, doi:10.1038/ng.624. Abstract
Moyer, R et al. (2010) Intronic Polymorphisms Affecting Alternative Splicing of Human Dopamine D2 Receptor Are Associated with Cocaine Abuse. Neuropsychopharmacology, doi:10.1038/npp.2010.208. Abstract
Murphy, A et al. (2010) Two-Stage Testing Strategies for Genome-Wide Association Studies in Family-Based Designs. Statistical Methods in Molecular Biology, 620:485-496, doi:0.1007/978-1-60761-580-4_17. Abstract
Nair, A et al. (2010) Case-Control Analysis of SNPs in GLUT4, RBP4 and STRA6: Association of SNPs in STRA6 with Type 2 Diabetes in a South Indian Population. PloS One, 5(7):e11444, doi:10.1371/journal.pone.0011444. Abstract
Ni, W et al. (2010) Flavopiridol Pharmacogenetics: Clinical and Functional Evidence for the Role of SLCO1B1/OATP1B1 in Flavopiridol Disposition. PLoS ONE, 5(11):e13792, doi:10.1371/journal.pone.0013792. Abstract
Nishizawa, D et al. (2010) Genetic Polymorphisms and Human Sensitivity to Opioid Analgesics. Methods in Molecular Biology, Analygesia, 617:395-420, doi:10.1007/978-1-60327-323-7_29. Abstract
Noel, S et al. (2010) Variants of the CD36 gene and metabolic syndrome in Boston Puerto Rican adults. Atherosclerosis, doi:10.1016/j.atherosclerosis.2010.02.009. Abstract
Novak, G et al. (2010) Association of polymorphisms in the BDNF, DRD1 and DRD3 genes with tobacco smoking in schizophrenia. Annals of Human Genetics, 74(4):291-298, doi:10.1111/j.1469-1809.2010.00578.x. Abstract
Park, H et al. (2010) Association between toll-like receptor 10 (TLR10) gene polymorphisms and childhood IgA nephropathy. European Journal of Pediatrics, doi:10.1007/s00431-010-1325-1. Abstract
Petukhova, L et al. (2010) Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. Nature, 466(7302):113-117, doi:10.1038/nature09114. Abstract
Poduslo, S et al. (2010) A genome screen of successful aging without cognitive decline identifies LRP1B by haplotype analysis. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, doi:10.1002/ajmg.b.30963. Abstract
Radstake, T et al. (2010) Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nature Genetics, 42:426-429, doi:10.1038/ng.565. Abstract
Ramu, P et al. (2010) Polymorphic variants of ?1 adrenergic receptor gene (Ser49Gly & Arg389Gly) in healthy Tamilian volunteers. Indian Journal of Medical Research, 132:62-66. Abstract
Remmers, E et al. (2010) Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Beh?et's disease. Nature Genetics, doi:10.1038/ng.625. Abstract
Salinas-Sanchez, A et al. (2010) Polymorphic deletions of the GSTT1 and GSTM1 genes and susceptibility to bladder cancer. BJU International, doi:10.1111/j.1464-410X.2010.09683.x. Abstract
Sanchez, A et al. (2010) Association of the Intergenic Single-Nucleotide Polymorphism rs10865331 (2p15) with Ankylosing Spondylitis in a Spanish Population. Journal of Rheumatology, doi:10.3899/jrheum.100211. Abstract
Sanchez, E et al. (2010) Genetically determined amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus. Arthritis & Rheumatism, doi:10.1002/art.27753. Abstract
Sandoval, A et al. (2010) Identification and characterization of small compound inhibitors of human FATP2. Biochemical Pharmacology, 79(7):990-999, doi:10.1016/j.bcp.2009.11.008. Abstract
Schwienbacher, C et al. (2010) Copy number variation and association over T-cell receptor genes?influence of DNA source. Immunogenetics, doi:10.1007/s00251-010-0459-7. Abstract
Selvi, N et al. (2010) Genetic Polymorphism of Methylenetetrahydrofolate Reductase as a Risk Factor for Lumbosacral Neural Tube Defects. Middle-East Journal of Scientific Research, 6(1):93-98. Abstract
Shoa, Y et al. (2010) Replication Of An Association Of The Interleukin-1 Receptor Antagonist Gene With Asthma In An Adult Urban Admixed Population. Respiratory and Critical Care Medicine. Abstract
Silva, M et al. (2010) TNF microsatellite alleles may confer protection against the development of lipodystrophy syndrome in Brazilian HIV patients. International Journal of Immunogenetics, doi:10.1111/j.1744-313X.2010.00937.x. Abstract
Sissung, T et al. (2010) Impact of ABCB1 allelic variants on QTc interval prolongation. Clinical Cancer Research, doi:10.1158/1078-0432.CCR-10-0925. Abstract
Skelding, K et al. (2010) Association of an INSIG2 obesity allele with cardiovascular phenotypes is gender and age dependent. BMC Cardiovascular Disorders, doi:10.1186/1471-2261-10-46. Abstract
Smith, R et al. (2010) Nicotinic alpha-5 receptor subunit mRNA expression is associated with distant 5' upstream polymorphisms. European Journal of Human Genetics, doi:10.1038/ejhg.2010.120. Abstract
Sombekke, et al. (2010) Analysis of multiple candidate genes in association with phenotypes of multiple sclerosis. Multiple Sclerosis, 0:1352458510364633v1. Abstract
Souza, R et al. (2010) Are serotonin 3A and 3B receptor genes associated with suicidal behavior in schizophreniasubjects? Neuroscience Letters, doi:10.1016/j.neulet.2010.11.079. Abstract
Souza, R et al. (2010) Schizophrenia severity and clozapine treatment outcome association with oxytocinergic genes. International Journal of Neuropsychopharmacology, doi:10.1017/S1461145710000167. Abstract
Sundaram, S et al. (2010) Tourette syndrome is associated with recurrent exonic copy number variants. Neurology, doi:10.1212/WNL.0b013e3181e0f147. Abstract
Tan, L et al. (2010) A genome-wide association analysis implicates SOX6 as a candidate gene for wrist bone mass. Science China Life Sciences, 53(9):1065-1072, doi:10.1007/s11427-010-4056-7. Abstract
Tejedor, M et al. (2010) Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene. Molecular Genetics and Genomics, doi:10.1007/s00438-010-0541-8. Abstract
Turolo, S et al. (2010) Frequencies and roles of CYP3A5, CYP3A4 and ABCB1 single nucleotide polymorphisms in Italian teenagers after kidney transplantation. Pharmacological Reports, 2010(62):1159-1169. Abstract
von Otter, M et al. (2010) Association of Nrf2-encoding NFE2L2 haplotypes with Parkinson's disease. BMC Medical Genetics, 11:36. Abstract
Vogler, C et al. (2010) Microarray-Based Maps of Copy-Number Variant Regions in European and Sub-Saharan Populations. PLoS ONE, 5(12):e15246, doi:10.1371/journal.pone.0015246. Abstract
von Otter, M et al. (2010) Nrf2-encoding NFE2L2 haplotypes influence disease progression but not risk in Alzheimer's disease and age-related cataract. Mechanisms of Ageing and Development, 131(2):105-110, doi:10.1016/j.mad.2009.12.007. Abstract
Wang, D et al. (2010) Intronic polymorphism in CYP3A4 affects hepatic expression and response to statin drugs. Parmacogenomics Journal, doi:10.1038/tpj.2010.28. Abstract
Watanabe, E et al. (2010) Association between lymphotoxin-[alpha] (tumor necrosis factor-[beta]) intron polymorphism and predisposition to severe sepsis is modified by gender and age. Critical Care Medicine, 38(1):181-193, doi:10.1097/CCM.0b013e3181bc805d. Abstract
Wu, A et al. (2010) Development of a Pharmacogenetic Predictive Test in asthma: proof of concept. Pharmacogenet Genomics, 20(2):86-93. Abstract
Yeh, Y et al. (2010) A possible association of the norepinephrine transporter gene in the development of heroin dependence in Han Chinese. Pharmacogenetics & Genomics, doi:10.1097/FPC.0b013e32833ef418. Abstract
Yoo, K et al. (2010) Nitric oxide synthase 2 gene polymorphisms are associated with prostatic volume in Korean men with benign prostatic hyperplasia. Asian Journal of Andrology, doi:10.1038/aja.2010.37. Abstract
Zai, C et al. (2010) Association study of BDNF and DRD3 genes in schizophrenia diagnosis using matched case?control and family based study designs. Progress in Neuro-Psychopharmacology and Biological Psychiatry, 31(8):1412-1418, doi:10.1016/j.pnpbp.2010.07.019. Abstract
Zhang, J et al. (2010) Meta-Analysis of Genetic Variation in DTNBP1 and General Cognitive Ability. Biological Psychiatry, 68(12):1126-1133, doi:10.1016/j.biopsych.2010.09.016. Abstract
Zhang, L & Lambert, C et al. (2010) Assessment of Variability in GWAS with CRLMM genotyping algorithm on WTCCC coronary artery disease. Pharmacognemoics, 10:347-354, doi:10.1038/tpj.2010.27. Abstract

2009 Publications

Akbari, M et al. (2009) Candidate Gene Association Study of Esophageal Squamous Cell Carcinoma in a High-Risk Region in Iran. Cancer Research, 69(20):7994?8000, doi:10.1158/0008-5472.CAN-09-1149. Abstract
Alkelai, A et al. (2009) Genome-wide association study of antipsychotic-induced parkinsonism severity among schizophrenia patients. Psychopharmacology, 206(3):491-499, doi:10.1007/s00213-009-1627-z. Abstract
Anderson, P et al. (2009) Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors. Journal of Antimicrobial Chemotherapy, 64(5):1071-1079, doi:10.1093/jac/dkp317. Abstract
Andersson, N et al. (2009) Variants of the interleukin-1 receptor antagonist gene are associated with fat mass in men. International Journal of Obesity, 33:525-533, doi:10.1038/ijo.2009.47. Abstract
Aston, K. et al. (2009) Genome-Wide Study of Single-Nucleotide Polymorphisms Associated With Azoospermia and Severe Oligozoospermia. Journal of Andrology. Abstract
Balakin, K et al. (2009) Application of Data Mining Algorithms in Pharmaceutical Research and Development. Pharmaceutical Data Mining: Approaches and Applications for Drug Discovery. Abstract
Balsa, A et al. (2009) Prediction of functional impairment and remission in rheumatoid arthritis patients by biochemical variables and genetic polymorphisms. Rheumatology, doi:10.1093/rheumatology/kep380. Abstract
Ban, J et al. (2009) Promoter Polymorphism (rs3755724, -55C/T) of Tissue Inhibitor of Metalloproteinase 4 (TIMP4) as a Risk Factor for Kawasaki Disease with Coronary Artery Lesions in a Korean Population. Pediatric Cardiology, 30(3):331-335, doi:10.1007/s00246-008-9341-x. Abstract
Barnes, A et al. (2009) Association of canine anal furunculosis with TNFA is secondary to linkage disequilibrium with DLA-DRB1. Tissue Antigens, 73(3):218-224, doi:10.1111/j.1399-0039.2008.01188.x. Abstract
Bertolino, A et al. (2009) Functional variants of the dopamine receptor D2 gene modulate prefronto-striatal phenotypes in schizophrenia. Brain, 132(2):417-425, doi:10.1093/brain/awn248. Abstract
Betteridge, Z et al. (2009) Clinical and human leucocyte antigen class II haplotype associations of autoantibodies to small ubiquitin-like modifier enzyme, a dermatomyositis-specific autoantigen target, in UK Caucasian adult-onset myositis. Annals of Rheumatic Diseases, 68:1621-1625, doi:10.1136/ard.2008.097162. Abstract
Beuselinck, B et al. (2009) Weekly paclitaxel versus weekly docetaxel in elderly or frail patients with metastatic breast carcinoma: A randomized phase-II study of the Belgian Society of Medical Oncology. Critical Reviews in Oncology/Hematology, doi:10.1016/j.critrevonc.2009.07.001. Abstract
Brennan, R et al. (2009) Network and Pathway Analysis of Compound-Protein Interactions. Chemogenomics, doi:10.1007/978-1-60761-274-2. Abstract
Burgner, D. et al. (2009) A Genome-Wide Association Study Identifies Novel and Functionally Related Susceptibility Loci for Kawasaki Disease. PloS Genetics. Abstract
Chen, M et al. (2009) Genetic variations in PI3K-AKT-mTOR pathway and bladder cancer risk. Carcinogenesis, doi:10.1093/carcin/bgp258. Abstract
Chinoy, H et al. (2009) HLA?DPB1 associations differ between DRB1*03 positive anti-Jo-1 and anti-PM-Scl antibody positive idiopathic inflammatory myopathy. Rheumatology, doi:10.1093/rheumatology/kep248. Abstract
Crosier, M et al. (2009) Association of Sequence Variations in Vitamin K Epoxide Reductase and ?-Glutamyl Carboxylase Genes with Biochemical Measures of Vitamin K Status. Journal of Nutritional Science and Vitaminology, 55(2):112-119, doi:10.3177/jnsv.55.112. Abstract
Crosier, M et al. (2009) Matrix Gla Protein Polymorphisms are Associated with Coronary Artery Calcification in Men. Journal of Nutritional Science and Vitaminology, 55(1):59-65, doi:10.3177/jnsv.55.59. Abstract
De Luca, V et al. (2009) HOMER1 Promoter Analysis in Parkinson's Disease: Association Study with Psychotic Symptoms. Neuropsychobiology, 59:239-245, doi:10.1159/000230689. Abstract
Deghaide, N et al. (2009) Tumor necrosis factor region polymorphisms are associated with AIDS and with cytomegalovirus retinitis. AIDS, 23(13):1641-1647, doi:10.1097/QAD.0b013e32832e5591. Abstract
Delgado-Lista, J et al. (2009) Effects of variations in the APOA1/C3/A4/A5 gene cluster on different parameters of postprandial lipid metabolism in healthy young men. Journal of Lipid Research, 10:28, doi:10.1194/jlr.M800527-JLR200. Abstract
Deng, F et al. (2009) Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians. Osteoporosis International, 21(4):579-587, doi:10.1007/s00198-009-0998-7. Abstract
Djurovic, S et al. (2009) Association of MCTP2 gene variants with schizophrenia in three independent samples of Scandinavian origin (SCOPE). Psychiatry Research, 168(3):256-258, doi:10.1016/j.psychres.2008.08.007. Abstract
Doehring, A et al. (2009) Genetic variants altering dopamine D2 receptor expression or function modulate the risk of opiate addiction and the dosage requirements of methadone substitution. Pharmacogenetics and Genomics, 19(6):407-414, doi:10.1097/FPC.0b013e328320a3fd. Abstract
Elmore, J et al. (2009) Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association. Journal of Vascular Surgery, doi:10.1016/j.jvs.2009.01.041. Abstract
Garaulet, M et al. (2009) CLOCK genetic variation and metabolic syndrome risk: modulation by monounsaturated fatty acids. American Journal of Clinical Nutrition, 90(6):1466-1475, doi:10.3945/ajcn.2009.27536. Abstract
Glatt, S et al. (2009) Family-based association testing strongly implicates DRD2 as a risk gene for schizophrenia in Han Chinese from TaiwanDominant effect of DRD2 on schizophrenia. Molecular Psychiatry, 14:885-893, doi:10.1038/mp.2008.30. Abstract
Goldstein, I et al. (2009) Association between Sodium- and Potassium-Activated Adenosine Triphosphatase [alpha] Isoforms and Bipolar Disorders. Biological Psychiatry, 65(11)985-991. Abstract
Gu, Y et al. (2009) Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease. Nature, doi:10.1038/nature07811. Abstract
Gunawardena, H et al. (2009) Autoantibodies to a 140-kd protein in juvenile dermatomyositis are associated with calcinosis. Arthritis & Rheumatism, 60(6):1807-1814. doi:10.1002/art.24547. Abstract
Hellard, S et al. (2009) Variants in Doublecortin- and Calmodulin Kinase Like 1, a Gene Up-Regulated by BDNF, Are Associated with Memory and General Cognitive Abilities. PLoS One, 4(10):e7534, doi:10.1371/journal.pone.0007534. Abstract
Hennessy, S et al. (2009) CYP2C9, CYP2C19, and ABCB1 Genotype and Hospitalization for Phenytoin Toxicity. Journal of Clinical Pharmacology, 49: 1483-1487.
Himes, B et al. (2009) Genome-wide Association Analysis Identifies PDE4D as an Asthma-Susceptibility Gene. American Journal of Human Genetics. Abstract
Hunninghake, G et al. (2009) MMP12, Lung Function, and COPD in High-Risk Populations. New England Journal of Medicine, doi:10.1056/NEJMoa0904006. Abstract
Israel, S et al. (2009) The Oxytocin Receptor (OXTR) Contributes to Prosocial Fund Allocations in the Dictator Game and the Social Value Orientations Task. PLoS One, 4(5):e5535, doi:10.1371/journal.pone.0005535. Abstract
Jeong, K et al. (2009) Association of TXNDC5 gene polymorphisms and susceptibility to nonsegmental vitiligo in the Korean population. British Journal of Dermatology, 162(4): 759-764, doi:10.1111/j.1365-2133.2009.09574.x. Abstract
Johnson A (2009) Promoter Polymorphisms in ACE (Angiotensin I?Converting Enzyme) Associated With Clinical Outcomes in Hypertension. Clinical Pharmacology & Therapeutics, 85:36-44, doi:10.1038/clpt.2008.194. Abstract
Juhasz, G et al. (2009) CNR1 Gene is Associated with High Neuroticism and Low Agreeableness and Interacts with Recent Negative Life Events to Predict Current Depressive Symptoms. Neuropsychopharmacology, 34,2019?2027; doi:10.1038/npp.2009.19. Abstract
Juhasz, G et al. (2009) Variations in the cannabinoid receptor 1 gene predispose to migraine. Neuroscience Letters, 461(2):116-120, doi:10.1016/j.neulet.2009.06.021. Abstract
Junyent, M et al. (2009) ADAM17_i33708A > G polymorphism interacts with dietary n-6 polyunsaturated fatty acids to modulate obesity risk in the Genetics of Lipid Lowering Drugs and Diet Network study. Nutrition, Metabolism, and Cardiovascular Diseases, doi:10.1016/j.numecd.2009.06.011. Abstract
Junyent, M et al. (2009) The effects of ABCG5/G8 polymorphisms on HDL-cholesterol concentrations depend on ABCA1 genetic variants in the Boston Puerto Rican Health Study. Nutrition, Metabolism, and Cardiovascular Diseases, doi:10.1016/j.numecd.2009.05.005. Abstract
Junyent, M et al. (2009) Genetic Variants at the PDZ-Interacting Domain of the Scavenger Receptor Class B Type I Interact with Diet to Influence the Risk of Metabolic Syndrome in Obese Men and Women. Journal of Nutrition, 139(5):842-848, doi:10.3945/jn.108.101196. Abstract
Junyent, M et al. (2009) Novel variants at KCTD10, MVK, and MMAB genes interact with dietary carbohydrates to modulate HDL-cholesterol concentrations in the Genetics of Lipid Lowering Drugs and Diet Network Study. American Journal of Clinical Nutrition, 90:686-694,doi:10.3945/ajcn.2009.27738. Abstract
Kanazawa, T et al. (2009) Family-based association study of SELENBP1 in schizophrenia. Schizophrenia Research, 113(2):268-272. Abstract
Kerner, B et al. (2009) Growth mixture modelling in families of the Framingham Heart Study. BMC Proceedings, 3(Suppl 7):S114. Abstract
Kibriya, M et al. (2009) A pilot genome-wide association study of early-onset breast cancer. Breast Cancer Research and Treatment, 114(3):463-477, doi:10.1007/s10549-008-0039-9. Abstract
Kim, D et al. (2009) A Gonadotropin-Releasing Hormone-II Antagonist Induces Autophagy of Prostate Cancer Cells. Cancer Research, 69(3):923-31, doi:10.1158/0008-5472.CAN-08-2115. Abstract
Kim, H et al. (2009) Genome-wide association study of acute post-surgical pain in humans. Pharmacogenomics, 10(2):171-179. Abstract
Kim, T et al. (2009) Association of histone deacetylase genes with schizophrenia in Korean population. Psychiatry Research, doi:10.1016/j.psychres.2009.05.007. Abstract
Kosoy, R et al. (2009) Ancestry Informative Marker Sets for Determining Continental Origin and Admixture Proportions in Common Populations in America. Human Mutation, Human Genome Variation Society, 30(1):69-78, doi:10.1002/humu.20822. Abstract
Lai, C et al. (2009) Population admixture associated with disease prevalence in the Boston Puerto Rican health study. Human Genetics, 125(2):199-209, doi:10.1007/s00439-008-0612-7. Abstract
Landgren, S et al. (2009) Association of nAChR gene haplotypes with heavy alcohol use and body mass. Brain Research, 1305(1):S72-S79, doi:10.1016/j.brainres.2009.08.026. Abstract
Landgren, S et al. (2009) No Association of VEGF Polymorphims with Alzheimer's Disease. Neuromolecular Medicine, 12(3):224-228, doi:10.1007/s12017-009-8096-8. Abstract
Le Hellerd, S, et al. (2009) Variants in Doublecortin- and Calmodulin Kinase Like 1, a Gene Up-Regulated by BDNF, Are Associated with Memory and General Cognitive Abilities. PLoS ONE, 4(10):e7534, doi:doi:10.1371/journal.pone.0007534. Abstract
Lee, I et al. (2009) Cladosporium sphaerospermum as a new plant growth-promoting endophyte from the roots of Glycine max (L.) Merr. World Journal of Microbiology and Biotechnology, doi:10.1007/s11274-009-9982-9. Abstract
Lee, K et al. (2009) Clusterin regulates transthyretin amyloidosis. Biochemical and Biophysical Research Communications, doi:10.1016/j.bbrc.2009.07.166. Abstract
Lei, S et al. (2009) Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci. Human Genetics, 125:1-9. Abstract
Levin, R et al. (2009) Association between arginine vasopressin 1a receptor (AVPR1a) promoter region polymorphisms and prepulse inhibition. Psychoneuroendocrinology, 34(6):901-908, doi:10.1016/j.psyneuen.2008.12.014. Abstract
Limer, K et al. (2009) Genetic Variation in Sex Hormone Genes Influences Heel Ultrasound Parameters in Middle-Aged and Elderly Men: Results From the European Male Aging Study (EMAS). Journal of Bone and Mineral Research, 24(2):314-323, doi:10.1359/jbmr.080912. Abstract
Liu, X et al. (2009) Genome-wide Association and Replication Studies Identified TRHR as an Important Gene for Lean Body Mass. American Journal of Human Genetics, 84(3):418-423, doi:10.1016/j.ajhg.2009.02.004. Abstract
Liu, Y et al. (2009) Association and Interactions between DNA Repair Gene Polymorphisms and Adult Glioma. Cancer Epidemiology Biomarkers & Prevention, 18(1):204-214. Abstract
Liu, Y et al. (2009) Genome-Wide Association Analyses Identify SPOCK as a Key Novel Gene Underlying Age at Menarche. PLoS One, 5(3): e1000420. Abstract
Lotsch, J et al. (2009) Cross-sectional analysis of the influence of currently known pharmacogenetic modulators on opioid therapy in outpatient pain centers. Pharmacogenetics and Genomics, 19(6):429-436, doi:10.1097/FPC.0b013e32832b89da. Abstract
Maheshwari, M et al. (2009) Common and Rare Variants of DAOA in Bipolar Disorder. American Journal Medical Genetics Part B: Neuropsychiatric Genetics, 150B(7):960-966, doi:10.1002/ajmg.b.30925. Abstract
Maney, P et al. (2009) Neutrophil Formylpeptide Receptor Single Nucleotide Polymorphism 348T>C in Aggressive Periodontitis. Journal of Periodontology Online, 80(3):492-498. Abstract
Marques, A et al. (2009) Low-density lipoprotein receptor variants are associated with spontaneous and treatment-induced recovery from hepatitis C virus infection. Infection, Genetics, and Evolution, 9(5):847-852, doi:10.1016. Abstract
Melistas, L et al. (2009) Association of the +45T>G and +276G>T polymorphisms in the adiponectin gene with insulin resistance in non-diabetic Greek women. European Journal of Endocrinology, doi:10.1530/EJE-09-0492. Abstract
Merikangas, A et al. (2009) Copy-number variants in neurodevelopmental disorders: promises and challenges. Trends in Genetics, 25(12):536-544, dio:10.1016/j.tig.2009.10.006. Abstract
Nassir, R et al. (2009) An ancestry informative marker set for determining continental origin: validation and extension using human genome diversity panels. BMC Genetics, 10:39, doi:10.1186/1471-2156-10-39. Abstract
Naylor, M et al. (2009) Recommendations for using standardised phenotypes in genetic association studies. Human Genomics, 3(4):308-319. Abstract
Nelis, M et al. (2009) Genetic Structure of Europeans: A View from the North?East. PLoS One, 4(5):e5472, dio:10.1371/journal.pone.0005472. Abstract
Nikolsky, Y et al. (2009) Functional Analysis of OMICs Data and Small Molecule Compounds in an Integrated "Knowledge-Based" Platform. Methods in Molecular Biology, Protein Networks and Pathway Analysis, 563:177-196, doi:10.1007/978-1-60761-175-2. Abstract
Paisan-Ruiz, C et al. (2009) Parkinson's Disease and Low Frequency Alleles Found Together Throughout LRRK2. Annals of Human Genetics, 73(4):391-403, doi:10.1111/j.1469-1809.2009.00524.x. Abstract
Pan, J et al. (2009) Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway. Carcinogensis, 30(5):785-792, doi:10.1093/carcin/bgp058. Abstract
Papassotiropoulos, A et al. (2009) A genome-wide survey of human short-term memory. Molecular Psychiatry, doi:10.1038/mp.2009.133. Abstract
Park, M et al. (2009) Genetic associations of common deletion polymorphisms in families with Avellino corneal dystrophy. Biochemical and Biophysical Research Communications, 387(4):688-693, doi:10.1016/j.bbrc.2009.07.084. Abstract
Park, S et al. (2009) Involvement of tryptophan hydroxylase 2 (TPH2) gene polymorphisms in susceptibility to coronary artery lesions in Korean children with Kawasaki disease. European Journal of Pediatrics, 169(4):457-461, doi:10.1007/s00431-009-1056-3. Abstract
Payton, A et al. (2009) Nitric oxide synthase 2A (NOS2A) polymorphisms are not associated with invasive pneumococcal disease. BMC Medical Genetics, doi:10.1186/1471-2350-10-28. Abstract
Phillips, C et al. (2009) Leptin Receptor Polymorphisms Interact with Polyunsaturated Fatty Acids to Augment Risk of Insulin Resistance and Metabolic Syndrome in Adults. Journal of Nutrition, doi:10.3945/jn.109.115329. Abstract
Phillips, C et al. (2009) Complement component 3 polymorphisms interact with polyunsaturated fatty acids to modulate risk of metabolic syndrome. American Journal of Clinical Nutrition, doi:10.3945/ajcn.2009.28101. Abstract
Plagnol, V (2009) Association tests and software for copy number variant data. Human Genomics, 3(2):191-194. Abstract
Pi, M et al. (2010) Impaired osteoblast function in GPRC6A null mice. Journal of Bone and Mineral Research, 25(5):1092-1102, doi:10.1359/jbmr.091037. Abstract
Poduslo, S et al. (2009) The frequency of the TRPC4AP haplotype in Alzheimer's patients. Neuroscience Letters, 450(3):344-346, doi:10.1016/j.neulet.2008.11.050. Abstract
Pu, X et al. (2009) Cyclooxygenase-2 gene polymorphisms reduce the risk of oral premalignant lesions. Cancer, doi: 10.1002/cncr.24157. Abstract
Rastogi, A et al. (2009) Genetic association and post-mortem brain mRNA analysis of DISC1 and related genes in schizophrenia. Schizophrenia Research, 114(1):39-49. Abstract
Rincon, G et al. (2009) Fine mapping and association analysis of a quantitative trait locus for milk production traits on Bos taurus autosome 4. Journal of Dairy Science, 92:758-764. doi:10.3168/jds.2008-1395. Abstract
Rincon, G et al. (2009) Polymorphisms in the STAT6 gene and their association with carcass traits in feedlot cattle. Animal Genetics, 40(6):878-82, doi:10.1111/j.1365-2052.2009.01934.x. Abstract
Roe, B et al. (2009) Financial and Psychological Risk Attitudes Associated with Two Single Nucleotide Polymorphisms in the Nicotine Receptor (CHRNA4) Gene. PLoS One, 4(8):e6704, doi:10.1371/journal.pone.0006704. Abstract
Rogers, A et al. (2009) Assessing the Reproducibility of Asthma Candidate Gene Associations, Using Genome-wide Data. American Journal of Respiratory and Critical Care Medicine, 179:1084-1090, doi:10.1164/rccm.200812-1860OC. Abstract
Rosner, G et al. (2009) Genetic Testing in Israel: An Overview. Annual Reviews of Genomics and Human Genetics, 10:175-192, doi:10.1146/annurev.genom.030308.111406. Abstract
Ross, C et al. (2009) Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. Nature Genetics, 41:1345-1349, doi:10.1038/ng.478. Abstract
Roy, M et al. (2009) Assessment of 193 Candidate Genes for Retinopathy in African Americans With Type 1 Diabetes. Archives of Ophthalmology, 127(5):605-612. Abstract
Saiz, P et al. (2009) Interactions between functional serotonergic polymorphisms and demographic factors influence personality traits in healthy Spanish Caucasians. Psychiatric Genetics, doi:10.1097/YPG.0b013e32833a20b9. Abstract
Sandanarj, E et al. (2009) VKORC1 Diplotype-Derived Dosing Model to Explain Variability in Warfarin Dose Requirements in Asian Patients. Drug Metabolism and Pharmacokinetics, 24(4):365-375, doi:10.2133/dmpk.24.365. Abstract
Santiago, J et al. (2009) Localization of Type 1 Diabetes susceptibility in the ancestral haplotype 18.2 by high density SNP mapping. Genomics, 94(4):228-232, doi:10.1016/j.ygeno.2009.06.007. Abstract
Satyanarayana, C et al. (2009) Influence of the Genetic Polymorphisms in the 5' Flanking and Exonic Regions of CYP2C19 on Proguanil Oxidation. Drug Metabolism and Pharmacokinetics, 24(6):537-548, doi:10.2133/dmpk.24.537. Abstract
Scharpf, R et al. (2009) A multilevel model to address batch effects in copy number estimation using SNP arrays. Berkeley Electronic Press. Abstract
Sharma, S et al. (2009) Association of VEGF polymorphisms with childhood asthma, lung function and airway responsiveness. European Respiratory Journal, 33:1287-1294. Abstract
Sharma, S et al. (2009) A Role for Wnt Signaling Genes in the Pathogenesis of Impaired Lung Function in Asthma. American Journal of Respiratory and Critical Care Medicine, 181:328-336, doi:10.1164/rccm.200907-1009OC. Abstract
Shtir, C et al. (2009) Copy number variation in the Framingham Heart Study. BMC Proceedings, 3(Suppl 7):S133. Abstract
Sombekke, M et al. (2009) HLA-DRB1*1501 and Spinal Cord Magnetic Resonance Imaging Lesions in Multiple Sclerosis. Archives of Neurology, 66(12):1531-1536. Abstract
Sun, Y et al. (2009) A Common CNV on Chr 6 Association With the Gene Expression Level of Endothelin 1 in Transformed B Lymphocytes From Three Racial Groups. Circulation: Cardiovascular Genetics. Abstract
Tian, C et al. (2009) European Population Genetic Substructure: Further Definition of Ancestry Informative Markers for Distinguishing among Diverse European Ethnic Groups. Molecular Medicine, 15(11-12):371-383, doi:10.2119/molmed.2009.00094. Abstract
Trivedit, N et al. (2009) Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations. Journal of Allergy and Clinical Immunology, 124(4):1099-1105, doi:10.1016/j.jaci.2009.07.026. Abstract
Tse, K et al. (2009) Genome-wide Association Study Reveals Multiple Nasopharyngeal Carcinoma-Associated Loci within the HLA Region at Chromosome 6p21.3. American Journal of Human Genetics, 85(2):194-203, doi:10.1016/j.ajhg.2009.07.007. Abstract
Tseng, Z et al. (2009) Association of TGFBR2 polymorphism with risk of sudden cardiac arrest in patients with coronary artery disease. HeartRhythm, 6(12):1745-1750. Abstract
Visscher, H et al. (2009) Application of principal component analysis to pharmacogenomic studies in Canada Use of principal component analysis in pharmacogenomics. Pharmacogenomics Journal, doi:10.1038/tpj.2009.36. Abstract
von Otter, M et al. (2009) Kinesin Light Chain 1 Gene Haplotypes in Three Conformational Diseases. Neuromolecular Medicine, 12(3):229-236, doi:10.1007/s12017-009-8103-0. Abstract
Voyiaziakis, E et al. (2009) Association of SLC6A4 variants with obsessive-compulsive disorder in a large multicenter US family study. Molecular Psychiatry, doi:10.1038/mp.2009.100. Abstract
Warodomwichit, D et al. (2009) ADIPOQ Polymorphisms, Monounsaturated Fatty Acids, and Obesity Risk: The GOLDN Study Obesity, doi:10.1038/oby.2008.583. Abstract
Warodomwichit, D et al. (2009) Polyunsaturated Fatty Acids Modulate the Effect of TCF7L2 Gene Variants on Postprandial Lipemia. Journal of Nutrition, 139(3):439-46. Abstract
Webb, E et al. (2009) Association Studies. Statistics and Informatics in Molecular Cancer Research. Abstract
Woo, S et al. (2009) Population Pharmacokinetics of Romidepsin in Patients with Cutaneous T-Cell Lymphoma and Relapsed Peripheral T-Cell Lymphoma. Clinical Cancer Research. Abstract
Xiong, D et al. (2009) Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups. American Journal of Human Genetics. Abstract
Yancey, S et al. (2009) Acute and chronic lung function responses to salmeterol and salmeterol plus fluticasone propionate in relation to Arg16Gly ?2-adrenergic polymorphisms. Current Medical Research and Opinion, 25(4):1011-1018. Abstract
Yang, H et al. (2009) Genome-Wide Association Study of Young-Onset Hypertension in the Han Chinese Population of Taiwan. PLoS One, 4(5):e5459, doi:10.1371/journal.pone.0005459. Abstract
Zai, C et al. (2009) Association study of the gamma-aminobutyric acid type a receptor ?2 subunit gene with schizophrenia. Schizophrenia Research, 114(1):33-38, doi:10.1016/j.schres.2009.07.010. Abstract
Zai, C et al. (2009) Genetic study of BDNF, DRD3, and the interaction in tardive dyskinesia. European Neuropsychopharmacology, 19(5):317-328, doi:10.1016/j.euroneuro.2009.01.001. Abstract
Zhang, H et al. (2009) Pro-Opiomelanocortin Gene Variation Related to Alcohol or Drug Dependence: Evidence and Replications Across Family- and Population-based Studies. Biological Psychiatry, 66(2):128-136, doi:10.1016/j.biopsych.2008.12.021. Abstract
Zhang, Z et al. (2009) Common variants of the glial cell-derived neurotrophic factor gene do not influence kidney size of the healthy newborn. Pediatric Nephrology, 24(6):1151-1157, doi:10.1007/s00467-008-1097-2. Abstract
Zhao, L et al. (2009) Genome-wide association study for femoral neck bone geometry. Journal of Bone and Mineral Research, 25(2):320-329, doi:10.1359/jbmr.090726. Abstract
Zhu, G et al. (2009) CTLA4 gene polymorphisms are associated with chronic bronchitis. European Respiratory Journal, 34:598-604. Abstract

2008 Publications

Abatepaulo, A et al. (2008) Detection of SNPs in bovine immune-response genes that may mediate resistance to the cattle tick Rhipicephalus (Boophilus) microplus. Animal Genetics, 39(3):328?329.
Alachkar, H et al. (2008) Allelic mRNA expression of sortilin-1 (SORL1) mRNA in Alzheimer's autopsy brain tissues. Neuroscience Letters, 448(1):120-124, doi:10.1016/j.neulet.2008.10.034.
Amos, C et al. (2008) Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1. Nature Genetics, 40(5):616-22.
Aquilante, C et al. (2008) Influence of SLCO1B1 and CYP2C8 gene polymorphisms on rosiglitazone pharmacokinetics in healthy volunteers. Human Genomics, 3(1):7-16.
Ashworth, J et al. (2008) Polymorphisms spanning the 0N exon and promoter of the estrogen receptor-beta (ER?) gene ESR2 are associated with venous ulceration. Clinical Genetics, 73(1):55-61.
Bae, J et al. (2008) Identification of SNP markers for common CNV regions and association analysis of risk of subarachnoid aneurysmal hemorrhage in Japanese population. Biochemical and Biophysical Research Communications, 373(4):593-596, doi:10.1016/j.bbrc.2008.06.083.
Ban, J et al. (2008) Association between Interleukin 31 Receptor A Gene Polymorphism and Schizophrenia in Korean Population. Korean Journal of Physiology and Pharmacology, 12(4):205-209, doi:10.4196/kjpp.2008.12.4.205.
Bourguinat, C et al. (2008) P-glycoprotein-like protein, a possible genetic marker for ivermectin resistance selection in Onchocerca volvulus. Molecular and Biochemical Parasitology, 158(2):101-111, doi:10.1016/j.molbiopara.2007.11.017.
Castelli, E et al. (2008) HLA-G polymorphism and transitional cell carcinoma of the bladder in a Brazilian population. Tissue Antigens, 72(2):149-157.
Chang, S et al. (2008) A Polymorphism of Fibrinogen Beta Chain (FGB) Gene is Not Associated with Autistic Spectrum Disorder in Korean Population. Experimental Neurobiology, 17(1):7-10.
Chen, H et al. (2008) Association of Skin Barrier Genes within the PSORS4 Locus Is Enriched in Singaporean Chinese with Early-Onset Psoriasis. Journal of Investigative Dermatology, 129:606-614, doi:10.1038/jid.2008.273.
Chinoy, H et al. (2008) The protein tyrosine phosphatase N22 gene is associated with juvenile and adult idiopathic inflammatory myopathy independent of the HLA 8.1 haplotype in British Caucasian patients. Arthritis & Rheumatism, 58(10):3247-3254, doi:10.1002/art.23900.
Chu, X et al. (2008) Association of Morbid Obesity With FTO and INSIG2 Allelic Variants. Archives of Surgery, 143(3):235-240.
Cogulu, O et al. (2008) Role of angiotensin-converting enzyme gene polymorphisms in children with sepsis and septic shock. Pediatrics International, 50(4):477-480.
Dai, Z et al. (2008) Genotyping panel for assessing response to cancer chemotherapy. BMC Medical Genomics, 1:24, doi:10.1186/1755-8794-1-24.
Davila, S et al. (2008) Genetic Association and Expression Studies Indicate a Role of Toll-Like Receptor 8 in Pulmonary Tuberculosis. PLoS Genetics, 4(10):e1000218, doi:10.1371/journal.pgen.1000218.
Davis, L et al. (2008) Cortical enlargement in autism is associated with a functional VNTR in the monoamine oxidase A gene. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 147B(7):1145-1151, doi:10.1002/ajmg.b.30738.
De Luca, V et al. (2008) Association of HPA axis genes with suicidal behaviour in schizophrenia. Journal of Psychopharmacology, 24(5):677-682, doi:10.1177/0269881108097817.
DeRosse, P et al. (2008) The Genetics of Symptom-Based Phenotypes: Toward a Molecular Classification of Schizophrenia. Schizophrenia Bulletin, 34(6):1047-1053, doi:10.1093/schbul/sbn076.
DeVos, L et al. (2008) Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations. American Journal of Clinical Nutrition, 88(4):1149-1158.
Donn, R et al. (2008) Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis. Arthritis & Rheumatism, 58(3):869-874, doi:10.1002/art.23270.
Duzovali, O et al. (2008) Glutathione S-Transferases CYP2C9 and CYP2C19 Polymorphisms in Turkish Children with Cancer. International Journal of Hematology and Oncology, 4(18):201-207.
Garcia-Fructuoso, F et al. (2008) Identification of differential genetic profiles in severe forms of fibromyalgia and chronic fatigue syndrome/myalgic encephalomyelitis: a population-based genetic association study. Journal of Clinical Research, 11:1-24.
Golledge, J et al. (2008) Relationship between two sequence variations in the gene for peroxisome proliferator-activated receptor-gamma and plasma homocysteine concentration. Human Genetics, 123(1):35-40.
Han, D et al. (2008) Matrix Metallopeptidase 2 Gene Polymorphism is Associated with Obesity in Korean Population. Korean Journal of Physiology and Pharmacology, 12(3):125-129, doi:10.4196/kjpp.2008.12.3.125.
Hellard, S et al. (2008) Association between the insulin-induced gene 2 (INSIG2) and weight gain in a German sample of antipsychotic-treated schizophrenic patients: perturbation of SREBP-controlled lipogenesis in drug-related metabolic adverse effects? Molecular Psychiatry, doi:10.1038/sj.mp.4002133.
Hellard, S et al. (2008) Polymorphisms in SREBF1 and SREBF2, two antipsychotic-activated transcription factors controlling cellular lipogenesis, are associated with schizophrenia in German and Scandinavian samples. Molecular Psychiatry, doi:10.1038/mp.2008.110.
Hong, M et al. (2008) A Polymorphism (rs10920568, A102A) of Adenosine A1 Receptor (ADORA1) Gene is Associated with Schizophrenia in Korean Population. Experimental Neurobiology, 17(1):1-5.
Hunninghake, G et al. (2008) Dust mite exposure modifies the effect of functional IL10 polymorphisms on allergy and asthma exacerbations. Journal of Allergy and Clinical Immunology, doi:10.1016/j.jaci.2008.03.015.
Ionita-Laza, I et al. (2008) On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test. Genetic Epidemiology. 32(3):273-284.
Johnson, D et al. (2008) Genetic associations with thalidomide mediated venous thrombotic events in myeloma identified using targeted genotyping. Blood, 112(13):4924-4934, doi:10.1182/blood-2008-02-140434.
Jung, M et al. (2008) Assessment of Relationship between Fyn-related Kinase Gene Polymorphisms and Overweight/Obesity in Korean Population. Korean Journal of Physiology & Pharmacology, 12(2):83-87, doi:10.4196/kjpp.2008.12.2.83.
Lai, C et al. (2008) PPARGC1A Variation Associated With DNA Damage, Diabetes, and Cardiovascular Diseases. Diabetes, 57:809-816.
Lai, C et al. (2008) WDTC1, the Ortholog of Drosophila Adipose Gene, Associates With Human Obesity, Modulated by MUFA Intake. Obesity, 17(3):593-600, doi:10.1038/oby.2008.561.
Lal, S et al. (2008) CBR1 and CBR3 pharmacogenetics and their influence on doxorubicin disposition in Asian breast cancer patients. Cancer Science, 99(10):2045-2054, doi:10.1111/j.1349-7006.2008.00903.x.
Landgren, S et al. (2008) Association of Pro-Ghrelin and GHS-R1A Gene Polymorphisms and Haplotypes With Heavy Alcohol Use and Body Mass. Alcoholism: Clinical and Experimental Research, 32(12):2054-2061. doi:10.1111/j.1530-0277.2008.00793.x.
Lasky-Su, J et al. (2008) On the Replication of Genetic Associations: Timing Can Be Everything! The American Journal of Human Genetics, 82(4):849-858, doi:10.1016/j.ajhg.2008.01.018.
Lee, H et al. (2008) Several Regions in the Major Histocompatibility Complex Confer Risk for Anti-CCP-Antibody Positive Rheumatoid Arthritis, Independent of the DRB1 Locus. Molecular Medicine, 14(5-6):293-300, doi:10.2119/2007-00123.Lee.
Lei, S et al. (2008) Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation. Human Molecular Genetics, 18(9):1661-1669, doi:10.1093/hmg/ddn405.
Lin, G et al. (2008) SNP Combinations in Chromosome-Wide Genes Are Associated with Bone Mineral Density in Taiwanese Women. Chinese Journal of Physiology, 51(1):32-41.
Lin, J et al. (2008) Case?control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma. Carcinogenesis, 29(11):2112-2119.
Liu, Y et al. (2008) Genome-wide association scans identified CTNNBL1 as a novel gene for obesity. Human Molecular Genetics, 17(12):1803-1813.
Liu, Y et al. (2008) Identification of PLCL1 Gene for Hip Bone Size Variation in Females in a Genome-Wide Association Study. PLoS ONE,3(9):e3160, doi:10.1371/journal.pone.0003160.
Manor, I et al. (2008) Association between trypotphan hydroxylase 2, performance on a continuance performance test and response to methylphenidate in ADHD participants. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 147B(8):1501-1508, doi:10.1002/ajmg.b.30702.
Mercader, J et al. (2008) Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders. Human Molecular Genetics, 17(9):1234-1244, doi:10.1093/hmg/ddn013.
Miyajima, F et al. (2008) Additive effect of BDNF and REST polymorphisms is associated with improved general cognitive ability. Genes, Brain, and Behavior, 7(7):714-719, doi:10.1111/j.1601-183X.2008.00409.x.
Nam, R et al. (2008) A genome-wide association screen identifies regions on chromosomes 1q25 and 7p21 as risk loci for sporadic prostate cancerSporadic prostate cancer. Prostate Cancer and Prostatic Diseases, 11:241-246, doi:10.1038/sj.pcan.4501010.
Nexo, B et al. (2008) Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPP1R13L/iASPP. BMC Medical Genetics, 9:56, doi:10.1186/1471-2350-9-56.
Paiva, L et al. (2008) Polymorphism of glutathione transferase Omega 1 in a population exposed to a high environmental arsenic burden. Pharmacogenetics & Genomics, 18(1):1-10.
Pushpakom, S et al. (2008) Polymorphisms in COL15 Gene Are Not Associated with Systemic Sclerosis. Journal of Rheumatology, 35(2):251-3.
Ramu, P et al. (2008) Genetic Variants of ?1-Adrenoceptor Gene Polymorphisms (Ser49gly And Arg389gly) And Essential Hypertension In A South Indian Tamil Population. Clinical and Experimental Pharmacology and Physiology, 36(5-6):576-582, doi: 10.1111/j.1440-1681.2008.05117.x.
Sharma, S et al. (2008) Variants in TGFB1, Dust Mite Exposure, and Disease Severity in Children with Asthma. American Journal of Respiratory and Critical Care Medicine, 179(5):356-362, doi:10.1164/rccm.200808-1268OC.
Shen, J et al. (2008) Association of Common C-Reactive Protein (CRP) Gene Polymorphisms With Baseline Plasma CRP Levels and Fenofibrate Response. Diabetes Care, 31(5):910-915, doi:10.2337/dc07-1687.
Sissung, T et al. (2008) ABCB1 Genetic Variation Influences the Toxicity and Clinical Outcome of Patients with Androgen-Independent Prostate Cancer Treated with Docetaxel. Clinical Cancer Research, 14:4543-4549.
Smith, R et al. (2008) Polymorphisms in the PTPN22 region are associated with psoriasis of early onset. British Journal of Dermatology 158(5):962?968.
Sun, Y et al. (2008) Application of machine learning algorithms to predict coronary artery calcification with a sibship-based design. Genetic Epidemiology, 32(4):350-360, doi:10.1002/gepi.20309.
Sun, Y et al. (2008) Imputing missing genotypic data of single-nucleotide polymorphisms using neural networks. European Journal of Human Genetics, 16:487-495.
Tian, C et al. (2008) Analysis and application of European genetic substructure using 300 K SNP information. PLoS Genetics, 4(1):e5.
Tian, C et al. (2008) Analysis of East Asia Genetic Substructure Using Genome-Wide SNP Arrays. PLoS ONE, 3(12):e3862, doi:10.1371/journal.pone.0003862.
Turner, S et al. (2008) Genomic Association Analysis Suggests Chromosome 12 Locus Influencing Antihypertensive Response to Thiazide Diuretic. Hypertension, 52:359, doi:10.1161/HYPERTENSIONAHA.107.104273.
Voetsch, B et al. (2008) Role of promoter polymorphisms in the plasma glutathione peroxidase (GPx-3) gene as a risk factor for cerebral venous thrombosis. Stroke, 39(2):303-7.
Wang, D et al (2008) Regulatory polymorphism in vitamin K epoxide reductase complex subunit 1 (VKORC1) affects gene expression and warfarin dose requirement. Blood, 112(11):1013-1021.
Wood, C et al. (2008) Association of chromosome 9p21 SNPs with cardiovascular phenotypes in morbid obesity using electronic health record data. Genomic Medicine, 2(1-2):33-43, doi:10.1007/s11568-008-9023-z.
Yang, H et al. (2008) Evaluation of Genetic Variants in MicroRNA-Related Genes and Risk of Bladder Cancer. Cancer Research, 68:2530-2537.
Yang, H et al. (2008) Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions. European Journal of Cancer, 44(11):1603-1611, doi:10.1016/j.ejca.2008.05.006.
Yang, H et al. (2008) Profiling of Genetic Variations in Inflammation Pathway Genes in Relation to Bladder Cancer Predisposition. Clinical Cancer Research, 14:2236-2244.
Ye, Y et al. (2008) Genetic variants in cell cycle control pathway confer susceptibility to bladder cancer. Cancer, 112(11):2467-2474, doi:10.1002/cncr.23472.
Ye, Y et al. (2008) Genetic variations in cell-cycle pathway and the risk of oral premalignant lesions. Cancer, 113(9):2488-2495, doi:10.1002/cncr.23854.
Zai, C et al. (2008) Genetic study of eight AKT1 gene polymorphisms and their interaction with DRD2 gene polymorphisms in tardive dyskinesia. Schizophrenia Research, 106(2-3):248-252, doi:10.1016/j.schres.2008.08.036.
Zhu, Y et al. (2008) Modulation of DNA damage/DNA repair capacity by XPC polymorphisms. DNA Repair, 7(2):141-148.

2007 Publications

Banerji, N et al. (2007) Association of Germ-line Polymorphisms in the Feline p53 Gene with Genetic Predisposition to Vaccine-Associated Feline Sarcoma. Journal of Heredity, 98(5):421-427.
Beretta, L et al. (2007) Interleukin-1 gene complex polymorphisms in systemic sclerosis patients with severe restrictive lung physiology. Human Immunology, 68(7):603-609.
Chen, M et al. (2007) High-order interactions among genetic polymorphisms in nucleotide excision repair pathway genes and smoking in modulating bladder cancer risk. Carcinogenesis, 28(10):2160.
Chinoy, H et al. (2007) Interferon-gamma and interleukin-4 gene polymorphisms in Caucasian idiopathic inflammatory myopathy patients in UK. British Medical Journal, 66(7):970-973.
Chinoy, H et al. (2007) Tumour necrosis factor- single nucleotide polymorphisms are not independent of HLA class I in UK Caucasians with adult onset idiopathic inflammatory myopathies. Rheumatology.
Chinoy, H et al. (2007) STK15 F31I polymorphism is associated with increased uterine cancer risk: A pilot study. Rheumatology, 46(4):604.
Corella, D et al. (2007) APOA5 gene variation modulates the effects of dietary fat intake on body mass index and obesity risk in the Framingham Heart Study. Journal of Molecular Medicine, 85(2):119-128.
Desai, M et al. (2007) An association analysis of the HLA gene region in latent autoimmune diabetes in adults. Diabetologia, 50(1):68-73.
Donn, R et al. (2007) Glucocorticoid receptor gene polymorphisms and susceptibility to rheumatoid arthritis. Clinical Endocrinology, 67(3):342?345.
Engels, E et al. (2007) Systematic Evaluation of Genetic Variants in the Inflammation Pathway and Risk of Lung Cancer. Cancer Research, 67(13):6520.
Glatt, S et al. (2007) Evaluation of OPRM1 variants in heroin dependence by family-based association testing and meta-analysis. Drug and Alcohol Dependence, 90(2-3):159-165, doi:10.1016/j.drugalcdep.2007.02.022.
Glorioso, N et al. (2007) Association of ATP1A1 and Dear Single-Nucleotide Polymorphism Haplotypes with Essential Hypertension. Circulation Research, 100(10):1522.
Hinks, A et al. (2007) Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK. Annals of Rheumatic Diseases, 66:683-686.
Ho, P et al. (2007) HLA-Cw6 and HLA-DRB1*07 together are associated with less severe joint disease in psoriatic arthritis. British Medical Journal, 66(6):807-811.
Ho, P et al. (2007) Investigating the role of the HLA-Cw*06 and HLA-DRB1 genes in susceptibility to psoriatic arthritis: comparison with psoriasis and undifferentiated inflammatory arthritis. Annals of the Rheumatic Diseases, doi:10.1136/ard.2007.071399.
Huang, M et al. (2007) High-Order Interactions among Genetic Variants in DNA Base Excision Repair Pathway Genes and Smoking in Bladder Cancer Susceptibility. Cancer Epidemiology Biomarkers & Prevention, 16:84-91.
Jones, D et al. (2007) Computational Approaches That Predict Metabolic Intermediate Complex Formation with CYP3A4 (+b5). Drug Metabolism & Disposition, 35(9):1466-1475, doi:10.1124/dmd.106.014613.
Kalra, M et al. (2007) Association of ApoE genetic variants with obstructive sleep apnea in children. Sleep Medicine, 9(3):260-265, doi:10.1016/j.sleep.2007.05.001.
Kaushal, R et al. (2007) Association of ALOX5AP with ischemic stroke: a population-based case-control study. Human Genetics, 121(5):601-607.
Knafo, A et al. (2007) Individual Differences in Allocation of Funds in the Dictator Game Associated with Length of the Arginine Vasopressin 1a Receptor (AVPR1a) RS3 Promoter-region and Correlation between RS3 Length and Hippocampal mRNA. Genes, Brain and Behavior.
Lamb, R et al. (2007) Positive association of SLC26A2 gene polymorphisms with susceptibility to systemic-onset juvenile idiopathic arthritis. Arthritis & Rheumatism, 56(4):1286-1291, doi:10.1002/art.22444.
Lencz, T, & Lambert, C et al. (2007) Runs of Homozygosity Reveal Highly Penetrant Recessive Loci in Schizophrenia. Proceedings of the National Academy of Sciences, v.104 no.50 pp19942-7 .
Lencz, T et al. (2007) Converging evidence for a pseudoautomal cytokin receptor gene locus in schizophrenia. Molecular Psychiatry, 12:572-580.
Li,H et al. (2007) High-throughput screening for fatty acid uptake inhibitors in humanized yeast identifies atypical antipsychotic drugs that cause dyslipidemias. Journal of Lipid Research, 49:230-244, doi:10.1194/jlr.D700015-JLR200.
Lim, J et al. (2007) Tryptophan hydroxylase 2 (TPH2) haplotypes predict levels of TPH2 mRNA expression in human ponsTPH2 mRNA allelic expression imbalance in pons. Molecular Psychiatry, 12:491-501, doi:10.1038/sj.mp.4001923.
Lin, J et al. (2007) Mutagen Sensitivity and Genetic Variants in Nucleotide Excision Repair Pathway: Genotype-Phenotype Correlation. Cancer Epidemiology Biomarkers & Prevention, 16(10):2065.
Mesa, J et al. (2007) Lamin A/C Polymorphisms, Type 2 Diabetes, and the Metabolic Syndrome. Diabetes, 56(3):884-889, doi:10.2337/db06-1055.
Milam, M et al. (2007) STK15 F31I polymorphism is associated with increased uterine cancer risk: A pilot study. Gynecologic Oncology, 107(1):71-74, doi:10.1016/j.ygyno.2007.05.025.
Miyajima, F et al. (2007) Brain-derived neurotrophic factor polymorphism Val66Met influences cognitive abilities in the elderly. Genes, Brain and Behavior, 7(4):411-417, doi:10.1111/j.1601-183X.2007.00363.x.
Owen, K etal. (2007) Common Variation in the LMNA Gene (Encoding Lamin A/C) and Type 2 Diabetes. Diabetes, 56(3):579-883, doi: 0.2337/db06-0930.
Pirmohamed, M et al. (2007) Investigation into the multidimensional genetic basis of drug-induced Stevens?Johnson syndrome and toxic epidermal necrolysis. Pharmacogenomics, 8(12):1661-1691, doi:10.2217/14622416.8.12.1661.
Potter, C et al. (2007) Investigation of association between the TRAF family genes and RA susceptibility. Annals of the Rheumatic Diseases, 66:1322-1326, doi:10.1136/ard.2006.065706.
Rampersaud, C et al. (2007) Identification of Novel Candidate Genes for Type 2 Diabetes From a Genome-Wide Association Scan in the Old Order Amish. Diabetes, 56(12):3053-3062, doi:10.2337/db07-0457.
Rogers, A et al. (2007) Filaggrin mutations confer susceptibility to atopic dermatitis but not to asthma. Journal of Allergy and Clinical Immunology, 120(6):1332-1337, doi:10.1016/j.jaci.2007.09.037.
Rukin, N et al. (2007) Prostate cancer susceptibility is mediated by interactions between exposure to ultraviolet radiation and polymorphisms in the 5 haplotype block of the vitamin D receptor gene. Cancer Letters, 247(2):328-335.
Sandanaraj, E et al. (2007) Influence of UGT1A9 intronic I399C>T polymorphism on SN-38 glucuronidation in Asian cancer patients. Pharmacogenomics Journal, 8:174-185, doi:10.1038/sj.tpj.6500473.
Shen, J et al. (2007) Interleukin1? Genetic Polymorphisms Interact with Polyunsaturated Fatty Acids to Modulate Risk of the Metabolic Syndrome. Journal of Nutrition, 137(8):1846.
Short, A et al. (2007) Analysis of Candidate Susceptibility Genes in Canine Diabetes. Journal of Heredity, 98(5):518-525, doi:10.1093/jhered/esm048.
Smith, R et al. (2007) Polymorphisms in the IL-12? and IL-23R Genes Are Associated with Psoriasis of Early Onset in a UK Cohort. Journal of Investigative Dermatology, 128:1325-1327, doi:10.1038/sj.jid.5701140.
Sun, Y et al. (2007) Classification of rheumatoid arthritis status with candidate gene and genome-wide single-nucleotide polymorphisms using random forests. BMC Proceedings, 1(Suppl1):S62.
Tanaka, T et al. (2007) Peroxisome proliferator-activated receptor a polymorphisms and postprandial lipemia in healthy men. Journal of Lipid Research, 48:1402-1408, doi:10.1194/jlr.M700066-JLR200.
Taylor, M et al. (2007) Management, presentation and interpretation of genome scans using GSCANDB. Bioinformatics, 23(12):1545.
Tejedor, T et al. (2007) Introgression of Alectoris chukar Genes into a Spanish Wild Alectoris rufa Population. Journal of Heredity, 98(2):179-182.
Voetsch, B et al. (2007) Promoter Polymorphisms in the Plasma Glutathione Peroxidase (GPx-3) Gene. A Novel Risk Factor for Arterial Ischemic Stroke Among Young Adults and Children. Stroke, 38:41.
Voineskos, S et al. (2007) Association of a4?2 nicotinic receptor and heavy smoking in schizophrenia. Journal of Psychiatry & Neuroscience, 32(6):412-416.
Wang, W et al (2007) Genetic Variants in Cell Cycle Control Pathway Confer Susceptibility to Lung Cancer. Clinical Cancer Research, 13(19):5974.
Warren, L et al. (2007) Use of pairwise marker combination and recursive partitioning in a pharmacogenetic genome-wide scan. The Pharmacogenomics Journal, 7:180-189.
Wedderburn, L et al. (2007) HLA class II haplotype and autoantibody associations in children with juvenile dermatomyositis and juvenile dermatomyositis?scleroderma overlap. Rheumatology, 46(12):1786-1791, doi:10.1093/rheumatology/kem265.
Wu, X et al. (2007) Projecting Individualized Probabilities of Developing Bladder Cancer in White Individuals. Journal of Clinical Oncology, 25(31):4974-4981, doi:10.1200/JCO.2007.10.7557.
Yang, H et al. (2007) ATM sequence variants associate with susceptibility to non-small cell lung cancer. International Journal of Cancer, 121(10):2254-2259, doi:10.1002/ijc.22918.
Zhang, H et al. (2007) The OPRD1 and OPRK1 loci in alcohol or drug dependence: OPRD1 variation modulates substance dependence risk. Molecular Psychiatry.
Zhang, Y et al. (2007) Polymorphisms in human dopamine D2 receptor gene affect gene expression, splicing, and neuronal activity during working memory. Proceedings of the National Academy of Sciences, 104(51):20552-20557, doi:10.1073/pnas.0707106104.

2006 Publications

Alfirevic, A et al. (2006) Serious carbamazepine-induced hypersensitivity reactions associated with the HSP70 gene cluster. Pharmacogenetics and Genomics, 16(4):287-296, doi:10.1097/01.fpc.0000189800.88596.7a.
Ardelli, B et al. (2006) Ivermectin imposes selection pressure on P-glycoprotein from Onchocerca volvulus: linkage disequilibrium and genotype diversity. Parasitology, 132(3):375-386, doi:10.1017/S0031182005008991.
Bleecker, E et al. (2006) Salmeterol response is not affected by ?2-adrenergic receptor genotype in subjects with persistent asthma. Journal of Allergy and Clinical Immunology, 118(4):809-816, doi:10.1016/j.jaci.2006.06.036.
Brown, J et al. (2006) TNF-a SNP haplotype frequencies in equidae. Tissue Antigens, 67(5):377-382.
Bugeja, M et al. (2006) An investigation of polymorphisms in the 17q11. 2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians. BMC Medical Genetics, 7(1):64.
Calle, R et al. (2006) Paraoxonase 2 (PON2) polymorphisms and development of renal dysfunction in type 2 diabetes: UKPDS 76. Diabetologia, 49(12):2892-2899.
Carrick, D et al. (2006) Genetic variations in ZFP36 and their possible relationship to autoimmune diseases. Journal of Autoimmunity, 26(3):182-196, doi:10.1016/j.jaut.2006.01.004.
Chia, S et al. (2006) Possibilities of newer ALAD polymorphism influencing human susceptibility to effects of inorganic lead on the neurobehavioral functions. NeuroToxicology, 28(2):312-317, doi:10.1016/j.neuro.2006.04.003.
Chinoy, H et al. (2006) Monocyte chemotactic protein-1 single nucleotide polymorphisms do not confer susceptibility for the development of adult onset polymyositis/dermatomyositis in UK Caucasians. Rheumatology.
Chinoy, H et al. (2006) In adult onset myositis, the presence of interstitial lung disease and myositis specific/associated antibodies are governed by HLA class II haplotype, rather than by myositis subtype. Arthritis Research & Therapy, 8:R13.
Corella, D et al. (2006) Perilipin Gene Variation Determines Higher Susceptibility to Insulin Resistance in Asian Women When Consuming a High?Saturated Fat, Low-Carbohydrate Diet. Diabetes Care, 29(6):1313-1319, doi:10.2337/dc06-0045.
De Luca, V et al. (2006) Association study between the novel functional polymorphism of the serotonin transporter gene and suicidal behaviour in schizophrenia. European Neuropsychopharmacology, 16(4):268-271, doi:10.1016/j.euroneuro.2005.09.007.
Desai, M et al. (2006) The Variable Number of Tandem Repeats Upstream of the Insulin Gene Is a Susceptibility Locus for Latent Autoimmune Diabetes in Adults. Diabetes, 55(6):1890-1894.
Eyre, S et al. (2006) Association of the FCRL3 gene with rheumatoid arthritis: a further example of population specificity? Arthritis Research & Therapy, 8:R117.
Eyre, S et al. (2006) Investigation of the MHC2TA gene, associated with rheumatoid arthritis in a Swedish population, in a UK rheumatoid arthritis cohort. Arthritis & Rheumatism, 54(11):3417-3422.
Gu, J et al. (2006) Polymorphisms of STK15 (Aurora-A) gene and lung cancer risk in Caucasians. Carcinogenesis, 28(2):350-355.
Hallman, D et al. (2006) Longitudinal analysis of haplotypes and polymorphisms of the APOA5 and APOC3 genes associated with variation in serum triglyceride levels: the Bogalusa Heart Study. Human Molecular Genetics, 55(12):1574-1581.
Herbert, A et al. (2006) A Common Genetic Variant Is Associated with Adult and Childhood Obesity. Science, 312:279-283.
Hinks, A et al. (2006) Fine mapping of genes within the IDDM8 region in rheumatoid arthritis. Arthritis Research & Therapy, 8:R145.
Huang, R et al. (2006) CYP19 haplotypes increase risk for Alzheimer?s disease. Journal of Medical Genetics, 43(8):42.
Johnson, A et al. (2006) Allelic Expression Imbalance Analysis in Heart Failure Samples Finds Novel cis-acting Alleles in ACE and SOD2. Circulation, 114:II_590.
Jones, D et al. (2006) Nature of allelic sequence polymorphism at the KIR3DL3 locus. Immunogenetics, 58(8):614-627.
Kader, A et al. (2006) Matrix Metalloproteinase Polymorphisms and Bladder Cancer Risk. Cancer Research, 66:11644, doi:10.1158/0008-5472.CAN-06-1212.
Klos, K et al. (2006) Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants. Arteriosclerosis, Thrombosis, and Vascular Biology, 26(8):1828.
Lotsch, J et al. (2006) Modulation of the central nervous effects of levomethadone by genetic polymorphisms potentially affecting its metabolism, distribution, and drug action. Clinical Pharmacology & Therapeutics, 79(1):72-89.
Lai, C et al. (2006) Dietary Intake of n-6 Fatty Acids Modulates Effect of Apolipoprotein A5 Gene on Plasma Fasting Triglycerides, Remnant Lipoprotein Concentrations, and Lipoprotein Particle Size. The Framingham Heart Study, Circulation.
Lim, J et al. (2006) Allelic expression of serotonin transporter (SERT) mRNA in human pons: lack of correlation with the polymorphism SERTLPR. Molecular Psychiatry, 11:649-662.
Moon, S et al. (2006) Associations Between G/A1229, A/G3944, T/C30875, C/T48200 and C/T65013 Genotypes and Haplotypes in the Vitamin D Receptor Gene, Ultraviolet Radiation and Susceptibility to Prostate Cancer. Annals of Human Genetics, 70(2):226-236.
Nam, R et al. (2006) Variants of the hK2 Protein Gene (KLK2) Are Associated with Serum hK2 Levels and Predict the Presence of Prostate Cancer at Biopsy. Clinical Cancer Research, 12(21):6452.
Page, N et al. (2006) Genetic Association Studies between the T Cell Immunoglobulin Mucin (TIM) Gene Locus and Childhood Atopic Dermatitis. International Archives of Allergy and Immunology, 141(4), doi:10.1159/000095459.
Pal, P et al. (2006) Variants in the HEPSIN gene are associated with prostate cancer in men of European origin. Human Genetics, 120(2):187-192.
Pinsonneault, J et al. (2006) Allelic mRNA expression of X-linked monoamine oxidase a (MAOA) in human brain: dissection of epigenetic and genetic factors. Human Molecular Genetics, 15(17):2636.
Plant, D et al. (2006) The CX3CL1?CX3CR1 system and psoriasis. Experimental Dermatology, 15(11):900-903.
Saeed, M et al. (2006) Paraoxonase cluster polymorphisms are associated with sporadic ALS. Neurology, 67(5):771.
Shephard, N et al. (2006) Will the real disease gene please stand up? BMC Genetics, 6(Suppl1):S66.
Suneetha, P et al. (2006) Association between vitamin D receptor, CCR5, TNF-a and TNF-? gene polymorphisms and HBV infection and severity of liver disease. Journal of Hepatology, 44(5):856-863, doi:10.1016/j.jhep.2006.01.028.
Woo, D et al. (2006) Association of Phosphodiesterase 4D With Ischemic Stroke A Population-Based Case-Control Study. Stroke, 37:371.
Wu, X et al. (2006) Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes. American Journal of Human Genetics, 78(3):464-479.
Zeggini, E et al. (2006) Association of HLA-DRB1* 13 with susceptibility to uveitis in juvenile idiopathic arthritis in two independent data sets. Rheumatology, 45(8):972.
Zeggini, E et al. (2006) Characterisation of the genomic architecture of human chromosome 17q and evaluation of different methods for haplotype block definition. BMC Genetics, 6:21.
Zeggini, E et al. (2006) Variation Within the Gene Encoding the Upstream Stimulatory Factor 1 Does Not Influence Susceptibility to Type 2 Diabetes in Samples From Populations With Replicated Evidence of Linkage to Chromosome 1q. Diabetes, 55(9):2541-2548, doi:10.2337/db06-0088.
Zhu, Y et al. (2006) Genotypes, haplotypes, and diplotypes of XPC and risk of bladder cancer. Carcinogenesis.

2005 Publications

Amoli, M et al. (2005) MCP-1 gene haplotype association in biopsy proven giant cell arteritis. Journal of Rheumatology, 32(3):507-510.
Ardelli, B et al. (2005) Characterization of a half-size ATP-binding cassette transporter gene which may be a useful marker for ivermectin selection in Onchocerca volvulus. Molecular and Biochemical Parasitology, 145(1):94-100, doi:10.1016/j.molbiopara.2005.09.011.
Barton, A et al. (2005) Investigation of the SLC22A4 gene (associated with rheumatoid arthritis in a Japanese population) in a United Kingdom population of rheumatoid arthritis patients. Arthritis & Rheumatism, 52(3):752-758.
Bugeja, M et al. (2005) An investigation of NOS2A promoter polymorphisms in Australian multiple sclerosis patients. European Journal of Human Genetics, 13:815-822.
Bull, S et al. (2005) Fine Mapping by Linkage and Association in Nuclear Family and Case-Control Designs. Genetic Epidemiology, 29(1):S48-S58.
Carroll, W et al. (2005) Maternal glutathione S-transferase GSTP 1 genotype is a specific predictor of phenotype in children with asthma. Pediatric Allergy and Immunology, 16(1):32-39.
Chia, S et al. (2005) Possible Influence of d-Aminolevulinic Acid Dehydratase Polymorphism and Susceptibility to Renal Toxicity of Lead: A Study of a Vietnamese Population. Environmental Health Perspectives, 113(10):1313-1317, doi:10.1289/ehp.7904.
Dong, L et al. (2005) Early B cell factor associated zinc finger protein gene mutation and the pathogenesis of lupus nephritis in Chinese population correlation. Chinese Medicine, 14(85):949-954.
Ho, P et al. (2005) Evidence for common genetic control in pathways of inflammation for Crohn?s disease and psoriatic arthritis. Arthritis and Rheumatism, 52(11):3596-3602.
Kuo, N et al. (2005) TNF-857T, A Genetic Risk Marker for Acute Anterior Uveitis. Investigative Ophthalmology & Visual Science, 46(5):1565-1571.
Lamb, R et al. (2005) Toll-like receptor 4 gene polymorphisms and susceptibility to juvenile idiopathic arthritis. Annals of Rheumatic Diseases, 64:767-769.
Lamb, R et al. (2005) Wnt-1?inducible signaling pathway protein 3 and susceptibility to juvenile idiopathic arthritis. Arthritis & Rheumatism, 52(11):3548-3553, doi:10.1002/art.21392.
Liang, D et al (2005) Variations within OLF1/EBF-associated zinc finger protein gene confer susceptibility to lupus nephritis in Chinese population. Zhonghua Yi Xue Za Zhi, 85(14):949-954.
Lovatt, T et al. (2005) Polymorphism in the nuclear excision repair geneERCC 2/XPD: association between an exon 6-exon 10 haplotype and susceptibility to cutaneous basal cell carcinoma. Human Mutation, 25(4):353-359.
Moon, S et al. (2005) Ultraviolet radiation: effects on risks of prostate cancer and other internal cancers. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 571(1-2):207-219, doi:10.1016/j.mrfmmm.2004.09.015.
Moore, R et al. (2005) Selecting cases from nuclear families for case-control association analysis. BMC Genetics, 6(Suppl1):S105.
Potter, C et al. (2005) TNFR2 is not associated with rheumatoid arthritis susceptibility in a Caucasian population. Arthritis & Rheumatism, 52(8):2579-2581.
Spraggs, C et al. (2005) Pharmacogenetics and obesity: common gene variants influence weight loss response of the norepinephrine/dopamine transporter inhibitor GW320659 in obese subjects. Pharmacogenetics and Genomics, 15(12):883-889.
Stephens, R et al. (2005) Polymorphisms in IGF-Binding Protein 1 Are Associated With Impaired Renal Function in Type 2 Diabetes. Diabetes, 54:3547-3553.
Woo, D et al. (2005) Association of Apolipoprotein E4 and Haplotypes of the Apolipoprotein E Gene With Lobar Intracerebral Hemorrhage. Stroke, 36:1874.
Young, S et al. (2005) Recursive partitioning analysis of complex disease pharmacogenetic studies. I. Motivation and overview. Pharmacogenomics, 6(1):65-75.
Zaykin, D et al. (2005) Large recursive partitioning analysis of complex disease pharmacogenetic studies. II. Statistical considerations. Pharmacogenomics, 6(1):77-89.
Zeggini, E et al. (2005) Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes. Diabetologia, 48(10):2013-2017.
Zeggini, E et al. (2005) Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samples. Diabetic Medicine, 22(12):1696-1700.

2004 Publications

Amoli, M et al. (2004) Epistatic interactions between HLA-DRB1 and interleukin 4, but not interferon-gamma, increase susceptibility to giant cell arteritis. Journal of Rheumatology, 31(12):2413-2417.
Barrows, C et al. (2004) The sumatriptan/naratriptan aggregated patient(SNAP) database: aggregation, validation and application. Cephalalgia, 24(7):586-595.
Barton, A et al. (2004) Association of protein kinase C alpha (PRKCA) gene with multiple sclerosis in a UK population. Brain, 127(8):1717-1722, doi:10.1093/brain/awh193.
Barton, A et al. (2004) A functional haplotype of the PADI4 gene associated with rheumatoid arthritis in a Japanese population is not associated in a United Kingdom population. Arthritis & Rheumatism, 50(4):1117-1121.
Barton, A et al. (2004) Haplotype analysis in simplex families and novel analytic approaches in a case-control cohort reveal no evidence of association of the CTLA-4 gene with rheumatoid arthritis. Arthritis & Rheumatism, 50(3):748-752.
Barton, A et al (2004) Polymorphisms in the tumour necrosis factor gene are not associated with severity of inflammatory polyarthritis. Annals of Rheumatic Diseases, 63(3):280.
Bodiwala, D et al. (2004) Polymorphisms in the vitamin D receptor gene, ultraviolet radiation, and susceptibility to prostate cancer. Environmental and Molecular Mutagenesis, 43(2):121-127.
Jones, P et al. (2004) p16 INK4a polymorphism: Associations with tumour progression in patients with sporadic colorectal cancer. International Journal of Oncology, 25:1447-1452.
John, S et al. (2004) Whole-Genome Scan, in a Complex Disease, Using 11, 245 Single-Nucleotide Polymorphisms: Comparison with Microsatellites. The American Journal of Human Genetics, 75(1):54-64.
Klotsman, M et al. (2004) A case-based evaluation of SRD5A1, SRD5A2, AR, and ADRA1A as candidate genes for severity of BPH. Pharmacogenomics Journal, 4:251-259.
Lai, C et al. (2004) Influence of the APOA5 locus on plasma triglyceride, remnant-like particles, lipoprotein subclasses and cardiovascular disease risk in the Framingham Heart Study. Journal of Lipid Research.
Lanier, E et al. (2004) Antiviral efficacy of abacavir in antiretroviral therapyexperienced adults harbouring HIV-1 with specific patterns of resistance to nucleoside reverse transcriptase inhibitors. Antiviral Therapy, 9(1):37-45.
Liew, C et al. (2004) Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearoyl-CoA desaturase, a key regulator of lipid and carbohydrate metabolism. Diabetologia, 47(12):2168-2175.
Strange, R et al. (2004) PTCH Polymorphism Is Associated With the Rate of Increase in Basal Cell Carcinoma Numbers During Follow-Up. Environmental and Molecular Mutagenesis, 44:469-476.
Strange, R et al. (2004) Susceptibility to Basal Cell Carcinoma: Associations with PTCH Polymorphisms. Annals of Human Genetics, 68(6):536-545.
Teutsch, S et al. (2004) Association of common T cell activation gene polymorphisms with multiple sclerosis in Australian patients. Journal of Neuroimmunology, 148(1-2):218-230, doi:10.1016/j.jneuroim.2003.12.003.
Woolmore, J et al. (2004) High Density Single Nucleotide Polymorphism Mapping of Protein Kinase C Alpha Gene in a UK Population of Multiple Sclerosis Patients. J ournal of Neurology Neurosurgery and Psychiatry, 75:516-522.
Zeggini, E et al. (2004) Association Studies of Insulin Receptor Substrate 1 Gene (IRS1) Variants in Type 2 Diabetes Samples Enriched for Family History and Early Age of Onset. Diabetes, 53(12):3319-3322, doi:10.2337/diabetes.53.12.3319.
Zeggini, E et al. (2004) Linkage and association studies of discoidin domain receptor 1 (DDR1) single nucleotide polymorphisms (SNPs) in juvenile oligoarthritis. Rheumatology, 43(9):1138-1141.

2003 Publications

Bodiwala, D et al. (2003) Associations between prostate cancer susceptibility and parameters of exposure to ultraviolet radiation. Cancer Letters, 200(2):141-148.
Bodiwala, D et al. (2003) Susceptibility to prostate cancer: studies on interactions between UVR exposure and skin type. Carcinogenesis, 24(4):711-717.
Glossop, J et al. (2003) Association of Polymorphism In Exon 1 of the Tumor Necrosis Factor Receptor Super Family 1A Gene with Haemoglobin Levels in Patients with Rheumatoid Arthritis. Rheumatology.
Lai, C et al. (2003) The APOA5 locus is a strong determinant of plasma triglyceride concentrations across ethnic groups in Singapore. Journal of Lipid Research, 44(12):2365-2373.

PUBLISHED ARTICLES

The following is a list of peer reviewed publications in which Golden Helix® software has been cited.

2024 Publications

2023 Publications

2022 Publications

2021 Publications

2020 Publications

2019 Publications

2018 Publications

2017 Publications

2016 Publications

2015 Publications

2014 Publications

2013 Publications

2012 Publications

2011 Publications

2010 Publications

2009 Publications

2008 Publications

2007 Publications

2006 Publications

2005 Publications

2004 Publications

2003 Publications