PUBLISHED ARTICLES

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

For information on citing SVS in journal articles, visit our How to Cite SVS page.

For information on citing GenomeBrowse in journal articles, visit our GenomeBrowse® Resources page.

2018 Publications

  • Malomane, D et al. (2018) Efficiency of different strategies to mitigate ascertainment bias when using SNP panels in diversity studies BMC Genomics, DOI: oi.org/10.1186/s12864-017-4416-9 Abstract
  • Gueant, J et al. (2018) APRDX1 mutant allele causes a MMACHCsecondary epimutation in cblC patients Nature Communications, DOI: 10.1038/s41467-017-02306-5 Abstract
  • Gorlova, O et al. (2018) Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations PLoS One, DOI: doi.org/10.1371/journal.pone.0189498 Abstract

2017 Publications

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

2016 Publications


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

2015 Publications

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

2014 Publications

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

2012 Publications

  • Arrington, C et al. (2012) Exome Analysis of a Family with Pleiotropic Congenital Heart Disease. Circulation: Cardiovascular Genetics, doi:10.1161/?CIRCGENETICS.111.961797. Abstract
  • Balasubbu, S et al. (2012) Evaluation of SNPs on chromosome 2p with Primary Open- Angle Glaucoma in the South Indian Cohort. Investigative Ophthalmology & Visual Science, doi:10.1167/iovs.11-8602. Abstract
  • Ban, J et al. (2012) Interleukin-1 Beta Polymorphisms are Associated with Lymph Node Metastasis in Korean Patients with Papillary Thyroid Carcinoma. Immunological Investigations, 41(8):888-905, doi:10.3109/08820139.2012.724751. Abstract
  • Bartolome, N et al. (2012) Genetic polymorphisms, inside and outside the MHC, improve prediction of AS radiographic severity in addition to clinical variables. Rheumatology, doi:10.1093/rheumatology/kes056. Abstract
  • Bolstad, A et al. (2011) Association between genetic variants in the tumour necrosis factor/lymphotoxin a/lymphotoxin ? locus and primary Sj?gren's syndrome in Scandinavian samples. Annals of the Rheumatic Diseases, doi:10.1136/annrheumdis-2011-200446. Abstract
  • Camargo, M et al. (2012) GWAS reveals new recessive loci associated with non-syndromic facial clefting. European Journal of Medical Genetics, doi:10.1016/j.ejmg.2012.06.005. Abstract
  • Cao, D et al. (2012) CDKN2B Polymorphism Is Associated with Primary Open-Angle Glaucoma (POAG) in the Afro-Caribbean Population of Barbados, West Indies. PLoS ONE, 7(6):e39278, doi:10.1371/journal.pone.0039278. Abstract
  • Chang, J et al. (2012) Genetic Variants in Telomere-Maintenance Genes and Bladder Cancer Risk. PLoS ONE, 7(2):e30665, doi:10.1371/journal.pone.0030665. Abstract
  • Chen, L et al. (2012) STK39 is an independent risk factor for male hypertension in Han Chinese. International Journal of Cardiology, 154(2):122-127, doi:10.1016/j.ijcard.2010.09.007. Abstract
  • Chen, X et al. (2012) ANKRD7 and CYTL1 are novel risk genes for alcohol drinking behavior. Chinese Medical Journal, 125(6):1127-1134. Abstract
  • Chettier, R (2012) Genome-Wide Array Study Identified Copy Number Variants Loci Associated with Adolescent Idiopathic Scoliosis. Orthopaedic Proceedings, 94-B (SUPP XXVII 45). Abstract
  • Cho, J et al. (2012) Association between CD40 promoter polymorphism (rs1800686, -508 C/T) and ischemic stroke with hypertension in a Korean population. Molecular & Cellular Toxicology, 8(3):257-262, doi:10.1007/s13273-012-0031-7. Abstract
  • Cho, S et al. (2012) Polymorphism of IGF1R Is Associated with Papillary Thyroid Carcinoma in a Korean Population. Journal of Interferon & Cytokine Research, 32(9):401-406, doi:10.1089/jir.2011.0084. Abstract
  • Choe, B et al. (2012) Polymorphisms of TGFBR2 contribute to the progression of papillary thyroid carcinoma. Molecular and Cellular Toxicology. 8:1-8, doi:10.1007/s13273-012-0001-0. Abstract
  • Choi, Y et al. (2012) Transforming growth factor beta receptor II polymorphisms are associated with Kawasaki disease. Korean Pediatric Society, 55(1):18-23, doi:10.3345/kjp.2012.55.1.18. Abstract
  • Coon, S et al. (2012) Polymorphisms of the SAMHD1 gene are not associated with the infection and natural control of HIV-1 in Europeans and African Americans. AIDS Research and Human Retroviruses, doi:10.1089/AID.2012.0039. Abstract
  • Dai, J et al. (2012) Genetic Polymorphism in a VEGF-Independent Angiogenesis Gene ANGPT1 and Overall Survival of Colorectal Cancer Patients after Surgical Resection. PLoS ONE,7(4):e34758, doi:10.1371/journal.pone.0034758. Abstract
  • de Quervain, D et al. (2012) PKCa is genetically linked to memory capacity in healthy subjects and to risk for posttraumatic stress disorder in genocide survivors. PNAS, doi:10.1073/pnas.1200857109. Abstract
  • Di Bernardo, M et al. (2012) Risk of developing chronic lymphocytic leukemia is influenced by HLA-A class I variation. Leukemia, doi:10.1038/leu.2012.173. Abstract
  • Dias, A et al. (2012) Genetic Variation in Putative Salt Taste Receptors and Salt Taste Perception in Humans. Chemical Senses, doi:10.1093/chemse/bjs090. Abstract
  • Dillon, S et al. (2012) Association genetics in Corymbia citriodora subsp. variegata identifies single nucleotide polymorphisms affecting wood growth and cellulosic pulp yield. New Phytologist, doi:10.1111/j.1469-8137.2012.04200.x. Abstract
  • Dotson, C et al. (2012) Variation in the Gene TAS2R13 is Associated with Differences in Alcohol Consumption in Patients with Head and Neck Cancer. Chemical Senses, doi:10.1093/chemse/bjs063. Abstract
  • Dunn, L et al. (2012) Cytokine gene variation is associated with depressive symptom trajectories in oncology patients and family caregivers. European Journal of Oncology Nursing, doi:10.1016/j.ejon.2012.10.004. Abstract
  • Edea, Z et al. (2012) Comparison of SNP Variation and Distribution in Indigenous Ethiopian and Korean Cattle (Hanwoo) Populations. Genomics & Informatics, 10(3):200-205, doi:10.5808/GI.2012.10.3.200. Abstract
  • Erblich, J et al. (2012) Genetic predictors of cue- and stress-induced cigarette craving: An exploratory study. Experimental and Clinical Psychopharmacology, 20(1):40-46, doi:10.1037/a0025369. 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-HIF1a pathway predict renal cell carcinoma risk. Molecular Carcinogenesis, doi:10.1002/mc.21917. Abstract
  • Wong, M et al. (2012) Prediction of susceptibility to major depression by a model of interactions of multiple functional genetic variants and environmental factors. Molecular Psychiatry, 17:624-633, doi:10.1038/mp.2012.13. Abstract
  • Wu, S et al. (2012) Association of SELE genotypes/haplotypes with sE-selectin levels in Taiwanese individuals: interactive effect of MMP9 level. BMC Medical Genetics, 3:115, doi:10.1186/1471-2350-13-115. Abstract
  • Xu, C et al. (2012) Polymorphisms in seizure 6-like gene are associated with bipolar disorder I: Evidence of gene?gender interaction. Journal of Affective Disorders, doi:10.1016/j.jad.2012.07.017. Abstract
  • Yang, H et al. (2012) A Genome-Wide Homozygosity Association Study Identifies Runs of Homozygosity Associated with Rheumatoid Arthritis in the Human Major Histocompatibility Complex. PLoS ONE, 7(4):e34840, doi:10.1371/journal.pone.0034840. Abstract
  • Yang, S et al. (2012) Genetic Variation in CYP17A1 Is Associated with Arterial Stiffness in Diabetic Subjects. Experimental Diabetes Research, doi:10.1155/2012/827172. Abstract
  • Zhou, Z et al. (2012) Genetic variants of NOXA and MCL1 modify the risk of HPV16-associated squamous cell carcinoma of the head and neck. BMC Cancer, 12:159, doi:10.1186/1471-2407-12-159. Abstract

2011 Publications

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

2010 Publications

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

2009 Publications

  • Akbari, M et al. (2009) Candidate Gene Association Study of Esophageal Squamous Cell Carcinoma in a High-Risk Region in Iran. Cancer Research, 69(20):7994?8000, doi:10.1158/0008-5472.CAN-09-1149. Abstract
  • Alkelai, A et al. (2009) Genome-wide association study of antipsychotic-induced parkinsonism severity among schizophrenia patients. Psychopharmacology, 206(3):491-499, doi:10.1007/s00213-009-1627-z. Abstract
  • Anderson, P et al. (2009) Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors. Journal of Antimicrobial Chemotherapy, 64(5):1071-1079, doi:10.1093/jac/dkp317. Abstract
  • Andersson, N et al. (2009) Variants of the interleukin-1 receptor antagonist gene are associated with fat mass in men. International Journal of Obesity, 33:525-533, doi:10.1038/ijo.2009.47. Abstract
  • Aston, K. et al. (2009) Genome-Wide Study of Single-Nucleotide Polymorphisms Associated With Azoospermia and Severe Oligozoospermia. Journal of Andrology. Abstract
  • Balakin, K et al. (2009) Application of Data Mining Algorithms in Pharmaceutical Research and Development. Pharmaceutical Data Mining: Approaches and Applications for Drug Discovery. Abstract
  • Balsa, A et al. (2009) Prediction of functional impairment and remission in rheumatoid arthritis patients by biochemical variables and genetic polymorphisms. Rheumatology, doi:10.1093/rheumatology/kep380. Abstract
  • Ban, J et al. (2009) Promoter Polymorphism (rs3755724, -55C/T) of Tissue Inhibitor of Metalloproteinase 4 (TIMP4) as a Risk Factor for Kawasaki Disease with Coronary Artery Lesions in a Korean Population. Pediatric Cardiology, 30(3):331-335, doi:10.1007/s00246-008-9341-x. Abstract
  • Barnes, A et al. (2009) Association of canine anal furunculosis with TNFA is secondary to linkage disequilibrium with DLA-DRB1. Tissue Antigens, 73(3):218-224, doi:10.1111/j.1399-0039.2008.01188.x. Abstract
  • Bertolino, A et al. (2009) Functional variants of the dopamine receptor D2 gene modulate prefronto-striatal phenotypes in schizophrenia. Brain, 132(2):417-425, doi:10.1093/brain/awn248. Abstract
  • Betteridge, Z et al. (2009) Clinical and human leucocyte antigen class II haplotype associations of autoantibodies to small ubiquitin-like modifier enzyme, a dermatomyositis-specific autoantigen target, in UK Caucasian adult-onset myositis. Annals of Rheumatic Diseases, 68:1621-1625, doi:10.1136/ard.2008.097162. Abstract
  • Beuselinck, B et al. (2009) Weekly paclitaxel versus weekly docetaxel in elderly or frail patients with metastatic breast carcinoma: A randomized phase-II study of the Belgian Society of Medical Oncology. Critical Reviews in Oncology/Hematology, doi:10.1016/j.critrevonc.2009.07.001. Abstract
  • Brennan, R et al. (2009) Network and Pathway Analysis of Compound-Protein Interactions. Chemogenomics, doi:10.1007/978-1-60761-274-2. Abstract
  • Burgner, D. et al. (2009) A Genome-Wide Association Study Identifies Novel and Functionally Related Susceptibility Loci for Kawasaki Disease. PloS Genetics. Abstract
  • Chen, M et al. (2009) Genetic variations in PI3K-AKT-mTOR pathway and bladder cancer risk. Carcinogenesis, doi:10.1093/carcin/bgp258. Abstract
  • Chinoy, H et al. (2009) HLA?DPB1 associations differ between DRB1*03 positive anti-Jo-1 and anti-PM-Scl antibody positive idiopathic inflammatory myopathy. Rheumatology, doi:10.1093/rheumatology/kep248. Abstract
  • Crosier, M et al. (2009) Association of Sequence Variations in Vitamin K Epoxide Reductase and ?-Glutamyl Carboxylase Genes with Biochemical Measures of Vitamin K Status. Journal of Nutritional Science and Vitaminology, 55(2):112-119, doi:10.3177/jnsv.55.112. Abstract
  • Crosier, M et al. (2009) Matrix Gla Protein Polymorphisms are Associated with Coronary Artery Calcification in Men. Journal of Nutritional Science and Vitaminology, 55(1):59-65, doi:10.3177/jnsv.55.59. Abstract
  • De Luca, V et al. (2009) HOMER1 Promoter Analysis in Parkinson's Disease: Association Study with Psychotic Symptoms. Neuropsychobiology, 59:239-245, doi:10.1159/000230689. Abstract
  • Deghaide, N et al. (2009) Tumor necrosis factor region polymorphisms are associated with AIDS and with cytomegalovirus retinitis. AIDS, 23(13):1641-1647, doi:10.1097/QAD.0b013e32832e5591. Abstract
  • Delgado-Lista, J et al. (2009) Effects of variations in the APOA1/C3/A4/A5 gene cluster on different parameters of postprandial lipid metabolism in healthy young men. Journal of Lipid Research, 10:28, doi:10.1194/jlr.M800527-JLR200. Abstract
  • Deng, F et al. (2009) Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians. Osteoporosis International, 21(4):579-587, doi:10.1007/s00198-009-0998-7. Abstract
  • Djurovic, S et al. (2009) Association of MCTP2 gene variants with schizophrenia in three independent samples of Scandinavian origin (SCOPE). Psychiatry Research, 168(3):256-258, doi:10.1016/j.psychres.2008.08.007. Abstract
  • Doehring, A et al. (2009) Genetic variants altering dopamine D2 receptor expression or function modulate the risk of opiate addiction and the dosage requirements of methadone substitution. Pharmacogenetics and Genomics, 19(6):407-414, doi:10.1097/FPC.0b013e328320a3fd. Abstract
  • Elmore, J et al. (2009) Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association. Journal of Vascular Surgery, doi:10.1016/j.jvs.2009.01.041. Abstract
  • Garaulet, M et al. (2009) CLOCK genetic variation and metabolic syndrome risk: modulation by monounsaturated fatty acids. American Journal of Clinical Nutrition, 90(6):1466-1475, doi:10.3945/ajcn.2009.27536. Abstract
  • Glatt, S et al. (2009) Family-based association testing strongly implicates DRD2 as a risk gene for schizophrenia in Han Chinese from TaiwanDominant effect of DRD2 on schizophrenia. Molecular Psychiatry, 14:885-893, doi:10.1038/mp.2008.30. Abstract
  • Goldstein, I et al. (2009) Association between Sodium- and Potassium-Activated Adenosine Triphosphatase [alpha] Isoforms and Bipolar Disorders. Biological Psychiatry, 65(11)985-991. Abstract
  • Gu, Y et al. (2009) Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease. Nature, doi:10.1038/nature07811. Abstract
  • Gunawardena, H et al. (2009) Autoantibodies to a 140-kd protein in juvenile dermatomyositis are associated with calcinosis. Arthritis & Rheumatism, 60(6):1807-1814. doi:10.1002/art.24547. Abstract
  • Hellard, S et al. (2009) Variants in Doublecortin- and Calmodulin Kinase Like 1, a Gene Up-Regulated by BDNF, Are Associated with Memory and General Cognitive Abilities. PLoS One, 4(10):e7534, doi:10.1371/journal.pone.0007534. Abstract
  • Hennessy, S et al. (2009) CYP2C9, CYP2C19, and ABCB1 Genotype and Hospitalization for Phenytoin Toxicity. Journal of Clinical Pharmacology, 49: 1483-1487. 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 ?2-adrenergic polymorphisms. Current Medical Research and Opinion, 25(4):1011-1018. Abstract
  • Yang, H et al. (2009) Genome-Wide Association Study of Young-Onset Hypertension in the Han Chinese Population of Taiwan. PLoS One, 4(5):e5459, doi:10.1371/journal.pone.0005459. Abstract
  • Zai, C et al. (2009) Association study of the gamma-aminobutyric acid type a receptor ?2 subunit gene with schizophrenia. Schizophrenia Research, 114(1):33-38, doi:10.1016/j.schres.2009.07.010. Abstract
  • Zai, C et al. (2009) Genetic study of BDNF, DRD3, and the interaction in tardive dyskinesia. European Neuropsychopharmacology, 19(5):317-328, doi:10.1016/j.euroneuro.2009.01.001. Abstract
  • Zhang, H et al. (2009) Pro-Opiomelanocortin Gene Variation Related to Alcohol or Drug Dependence: Evidence and Replications Across Family- and Population-based Studies. Biological Psychiatry, 66(2):128-136, doi:10.1016/j.biopsych.2008.12.021. Abstract
  • Zhang, Z et al. (2009) Common variants of the glial cell-derived neurotrophic factor gene do not influence kidney size of the healthy newborn. Pediatric Nephrology, 24(6):1151-1157, doi:10.1007/s00467-008-1097-2. Abstract
  • Zhao, L et al. (2009) Genome-wide association study for femoral neck bone geometry. Journal of Bone and Mineral Research, 25(2):320-329, doi:10.1359/jbmr.090726. Abstract
  • Zhu, G et al. (2009) CTLA4 gene polymorphisms are associated with chronic bronchitis. European Respiratory Journal, 34:598-604. Abstract

2008 Publications

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

2007 Publications

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

2006 Publications

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

2005 Publications

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

2004 Publications

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

2003 Publications

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