Published Articles

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

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Golden Helix software should be cited as follows:
Analysis was done using SNP & Variation Suite v7.x.x (Golden Helix, Bozeman, MT, www.goldenhelix.com).

CUSTOMER SUCCESS HIGHLIGHTS

08.15.10

Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease

Hamza, T. et al
New York State Department of Health Wadsworth Center

08.11.10

Nicotinic α5 receptor subunit mRNA expression is associated with distant 5' upstream polymorphisms

Smith, R. et al
Ohio State University

07.30.10

The MicroArray Quality Control (MAQC)-II study of common practices for the development and validation of microarray-based predictive models

MAQC Consortium

07.11.10

Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet's disease susceptibility loci

Mizuki, N. et al
Yokohama City University Graduate School of Medicine, Japan

07.11.10

GWAS identifies variants in the MHC class I, IL10, & IL23R-IL12RB2 regions associated with Behçet's disease

Remmers, E. et al
National Institute of Arthritis and Musculoskeletal & Skin Diseases, USA

07.01.10

Genome-wide association study in alopecia areata implicates both innate and adaptive immunity

Petukhova, L. et al
Department of Dermatology,
Columbia University

06.26.10

Copy number variation and association over T-cell receptor genes—influence of DNA source

Schwienbacher, C. et al
Institute of Genetic Medicine, European Academy Bozen/Bolzano

05.4.10

Variability in GWAS analysis: the impact of genotype calling algorithm inconsistencies

Miclaus, K
SAS Institute, Cary, NC

04.28.10

Tourette syndrome is associated with recurrent exonic copy number variants - Neurology

Sundaram, S. et al
Wayne State University

04.26.10

Batch effects in the BRLMM genotype calling algorithm influence GWAS results for the Affymetrix 500K array

Miclaus, K
SAS Institute, Cary, NC

04.11.10

Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus - Nature Genetics

Radstake, T. et al
Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

04.06.10

Assessing sources of inconsistencies in genotypes and their effects on genome-wide association studies with HapMap samples

Hong, H. et al
National Center for Toxicological Research, US FDA

04.01.10

Evaluating variations of genotype calling: a potential source of spurious associations in genome-wide association studies

Hong, H. et al
National Center for Toxicological Research, US FDA

03.9.10

Assessment of variability in GWAS with CRLMM genotyping algorithm on WTCCC coronary artery disease

Zhang, L
Center for Drug Evaluation & Research, FDA

03.03.10

Identification of Genome-wide Copy Number Variations and a Family-based Association Study of Avellino Corneal Dystrophy

Bae, J. et al
Sogang University, Shinsu-dong, Mapo-gu, Seoul, Republic of Korea

01.08.10

Genome-Wide Association Study Identifies ALDH7A1 as a Novel Susceptibility Gene for Osteoporosis - PLoS Genetics

Guo, Y. et al
Xi'an Jiaotong University, Xi'an, People's Republic of China

12.01.09

Genome-Wide Study of Single-Nucleotide Polymorphisms Associated With Azoospermia and Severe Oligozoospermia - Journal of Andrology

Aston K. et al
University of Utah

10.01.09

A Common CNV on Chr 6 Association With the Gene Expression Level of Endothelin 1 in Transformed B Lymphocytes From Three Racial Groups - Cardiovascular Genetics

Sun Y. et al
University of Michigan

05.07.09

Genome-wide Association Analysis Identifies PDE4D as an Asthma-Susceptibility Gene - American Journal of Human Genetics

Himes B., et al
Brigham and Women's Hospital

05.01.09

Genetic Variants...Interact with Diet to Influence the Risk of Metabolic Syndrome in Obese Men and Women

Junyent M., et al
USDA and Tufts University

4.23.09

Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease - Nature

Gu Y., et al
Cincinnati Children's

02.01.09

Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups

Xiong D., et al
U. of Missouri-Kansas City

02.01.09

Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci - Human Genetics

 

Lei S., et al
Hunan Normal University

02.01.09

Common and Rare Variants of DAOA in Bipolar Disorder - American Journal of Medical Genetics

Maheshwari M., et al
Baylor College of Medicine

01.01.09

A Genome-Wide Association Study Identifies Novel and Functionally Related Susceptibility Loci for Kawasaki Disease

 

Burgner D., et al
University of Western Austraila

05.01.08

Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1 - Nature Genetics

 

Amos C., et. al.
MD Anderson Cancer Center

2010 Publications

• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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, 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
• 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
• 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
• 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
• 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
• 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
• Mekli, K et al. (2010) The HTR1A and HTR1B receptor genes influence stress-related information processing. European Neuropsychopharmacology, doi:10.1016/j.euroneuro.2010.06.013. Abstract
• Miclaus, K & Lambert, C et al. (2010) Batch effects in the BRLMM genotype calling algorithm influence GWAS results for the Affymetrix 500K array. Pharmacogenomics, 10:336-346, doi:10.1038/tpj.2010.36. Abstract
• Miclaus, K & Lambert, C et al. (2010) Variability in GWAS analysis: the impact of genotype calling algorithm inconsistencies. Pharmacogenomics, 10:324-335, doi:10.1038/tpj.2010.46. Abstract
• Mizuki, N et al. (2010) Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet's disease susceptibility loci. Nature Genetics, doi:10.1038/ng.624. Abstract
• 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
• 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
• Petukhova, L et al. (2010) Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. Nature, 466(7302):113-117, doi:10.1038/nature09114. Abstract
• Poduslo, S et al. (2010) A genome screen of successful aging without cognitive decline identifies LRP1B by haplotype analysis. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, doi:10.1002/ajmg.b.30963.Abstract
• Radstake, T et al. (2010) Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nature Genetics, 42:426-429, doi:10.1038/ng.565. Abstract
• Ramu, P et al. (2010) Polymorphic variants of β1 adrenergic receptor gene (Ser49Gly & Arg389Gly) in healthy Tamilian volunteers. Indian Journal of Medical Research, 132:62-66. Abstract
• Remmers, E et al. (2010) Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease. Nature Genetics, doi:10.1038/ng.625. Abstract
• 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
• 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
• 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) 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
• 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
• von Otter, M et al. (2010) Association of Nrf2-encoding NFE2L2 haplotypes with Parkinson's disease. BMC Medical Genetics, 11:36. 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
• 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
• 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
• 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) 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
• 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
• 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) Single-Nucleotide Polymorphism Bioinformatics: A Comprehensive Review of Resources. Circulation: Cardiovascular Genetics, 2:530-536, doi:10.1161/CIRCGENETICS.109.872010. 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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) The monounsaturated fatty acid intake modulates the effect of ADIPOQ polymorphisms on obesity. Obesity, doi:10.1038/oby.2008.583. Abstract
• Warodomwichit, D et al. (2009) Polyunsaturated Fatty Acids Modulate the Effect of TCF7L2 Gene Variants on Postprandial Lipemia. Journal of Nutrition, 139(3):439-46. Abstract
• Webb, E et al. (2009) Association Studies. Statistics and Informatics in Molecular Cancer Research. Abstract
• Woo, S et al. (2009) Population Pharmacokinetics of Romidepsin in Patients with Cutaneous T-Cell Lymphoma and Relapsed Peripheral T-Cell Lymphoma. Clinical Cancer Research. Abstract
• Xiong, D et al. (2009) Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups. American Journal of Human Genetics. Abstract
• Yancey, S et al. (2009) Acute and chronic lung function responses to salmeterol and salmeterol plus fluticasone propionate in relation to Arg16Gly β2-adrenergic polymorphisms. Current Medical Research and Opinion, 25(4):1011-1018. Abstract
• Yang, H et al. (2009) Genome-Wide Association Study of Young-Onset Hypertension in the Han Chinese Population of Taiwan. PLoS One, 4(5):e5459, doi:10.1371/journal.pone.0005459. Abstract
• Zai, C et al. (2009) Association study of the gamma-aminobutyric acid type a receptor γ2 subunit gene with schizophrenia. Schizophrenia Research, 114(1):33-38, doi:10.1016/j.schres.2009.07.010. Abstract
• Zai, C et al. (2009) Genetic study of BDNF, DRD3, and the interaction in tardive dyskinesia. European Neuropsychopharmacology, 19(5):317-328, doi:10.1016/j.euroneuro.2009.01.001. Abstract
• Zhang, H et al. (2009) Pro-Opiomelanocortin Gene Variation Related to Alcohol or Drug Dependence: Evidence and Replications Across Family- and Population-based Studies. Biological Psychiatry, 66(2):128-136, doi:10.1016/j.biopsych.2008.12.021. Abstract
• Zhang, Z et al. (2009) Common variants of the glial cell-derived neurotrophic factor gene do not influence kidney size of the healthy newborn. Pediatric Nephrology, 24(6):1151-1157, doi:10.1007/s00467-008-1097-2. Abstract
• 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.
• 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.
• Ashworth, J et al. (2008) Polymorphisms spanning the 0N exon and promoter of the estrogen receptor-beta (ERβ) gene ESR2 are associated with venous ulceration. Clinical Genetics, 73(1):55-61.
• 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.
• 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.
• 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.
• 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.
• 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.
• Lai, C et al. (2008) PPARGC1A Variation Associated With DNA Damage, Diabetes, and Cardiovascular Diseases. Diabetes, 57:809-816.
• 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.
• 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.
• 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.
• 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.
• 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) 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.
• 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.
• 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) Profiling of Genetic Variations in Inflammation Pathway Genes in Relation to Bladder Cancer Predisposition. Clinical Cancer Research, 14:2236-2244.
• Zhu, Y et al. (2008) Modulation of DNA damage/DNA repair capacity by XPC polymorphisms. DNA Repair, 7(2):141-148.

2007 Publications

• 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.
• Dessai, 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.
• 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. British Medical Journal.
• 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.
• 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.
• 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.
• 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.
• Miyajima, F et al. (2007) Brain-derived neurotrophic factor polymorphism Val66Met influences cognitive abilities in the elderly. Genes, Brain and Behavior.
• Nielsen, D et al. (2007) The BiolAD-DB System: An Informatics System for Clinical and Genetic Data. Molecular Diagnosis & Therapy, 11(1):15-19.
• 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.
• 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.
• Shen, J et al. (2007) Interleukin1ß Genetic Polymorphisms Interact with Polyunsaturated Fatty Acids to Modulate Risk of the Metabolic Syndrome. Journal of Nutrition, 137(8):1846.
• 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.
• 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.
• 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.
• Zhang, H et al. (2007) The OPRD1 and OPRK1 loci in alcohol or drug dependence: OPRD1 variation modulates substance dependence risk. Molecular Psychiatry.

2006 Publications

• 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.
• 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.
• Desai, M et al. (2006) The Variable Number of Tandem Repeats Upstream of the Insulin Gene Is a Susceptibility Locus for Latent Autoimmune Diabetes in Adults. Diabetes, 55(6):1890-1894.
• Eyre, S et al. (2006) Association of the FCRL3 gene with rheumatoid arthritis: a further example of population specificity? Arthritis Research & Therapy, 8:R117.
• Eyre, S et al. (2006) Investigation of the MHC2TA gene, associated with rheumatoid arthritis in a Swedish population, in a UK rheumatoid arthritis cohort. Arthritis & Rheumatism, 54(11):3417-3422.
• Gu, J et al. (2006) Polymorphisms of STK15 (Aurora-A) gene and lung cancer risk in Caucasians. Carcinogenesis, 28(2):350-355.
• Hallman, D et al. (2006) Longitudinal analysis of haplotypes and polymorphisms of the APOA5 and APOC3 genes associated with variation in serum triglyceride levels: the Bogalusa Heart Study. Human Molecular Genetics, 55(12):1574-1581.
• Herbert, A et al. (2006) A Common Genetic Variant Is Associated with Adult and Childhood Obesity. Science, 312:279-283.
• Hinks, A et al. (2006) Fine mapping of genes within the IDDM8 region in rheumatoid arthritis. Arthritis Research & Therapy, 8:R145.
• Huang, R et al. (2006) CYP19 haplotypes increase risk for AlzheimerÆs disease. Journal of Medical Genetics, 43(8):42.
• Jones, D et al. (2006) Nature of allelic sequence polymorphism at the KIR3DL3 locus. Immunogenetics, 58(8):614-627.
• 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.
• Pal, P et al. (2006) Variants in the HEPSIN gene are associated with prostate cancer in men of European origin. Human Genetics, 120(2):187-192.
• Pinsonneault, J et al. (2006) Allelic mRNA expression of X-linked monoamine oxidase a (MAOA) in human brain: dissection of epigenetic and genetic factors. Human Molecular Genetics, 15(17):2636.
• Plant, D et al. (2006) The CX3CL1ûCX3CR1 system and psoriasis. Experimental Dermatology, 15(11):900-903.
• Saeed, M et al. (2006) Paraoxonase cluster polymorphisms are associated with sporadic ALS. Neurology, 67(5):771.
• Shephard, N et al (2006) Will the real disease gene please stand up? BMC Genetics, 6(Suppl1):S66.
• 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.
• Zhu, Y et al. (2006) Genotypes, haplotypes, and diplotypes of XPC and risk of bladder cancer. Carcinogenesis.

2005 Publications

• 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.
• 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.
• 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.
• 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

• 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) 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.
• 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) Association of protein kinase C alpha (PRKCA) gene with multiple sclerosis in a UK population. Brain, 127(8):1717-1722.
• 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.
• Woolmore, J et al. (2004) High Density Single Nucleotide Polymorphism Mapping of Protein Kinase C Alpha Gene in a UK Population of Multiple Sclerosis Patients. Journal of Neurology Neurosurgery and Psychiatry, 75:516-522.
• Zeggini, E et al. (2004) 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.