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Published Articles

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

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2015 Publications

  • 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
  • Folefac, A. 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 (NR3C1α). 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 Abstract
  • 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 α 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 TNFα 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

  • 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

  • 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
  • Brække Norheim, K et al. (2013) A possible genetic association with chronic fatigue in primary Sjögren'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-κB 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 Sjögren's syndrome with Fcγ 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 Behçet'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 Behçet 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 α/lymphotoxin β locus and primary Sjögren'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) PKCα 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. Abstract
  • 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-HIF1α 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

  • 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 Sjögren'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 Jounal, 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
  • Cáliz, 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) PPARγ 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
  • Nielsen, K et al. (2011) Promoter polymorphisms in the chitinase 3-like 1 gene influence the serum concentration of YKL-40 in Danish patients with rheumatoid arthritis and in healthy subjects. Arthritis Research & Therapy, 13:R109, doi:10.1186/ar3391. 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 Methodolgy, 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-Sánchez, 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-β 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 Behçet'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 β1 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 Behçet'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 γ-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. Abstract
  • 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, 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 β2-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 γ2 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 (ERβ) 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 β1-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) Interleukin1ß 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-12β 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 α 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 α4β2 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 β2-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-α 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 AlzheimerÆs 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 CX3CL1ûCX3CR1 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-α and TNF-β 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 δ-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. Journal 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.

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