Published in Nat Genet on November 02, 2008
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nat Genet (2009) 16.53
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science (2009) 16.35
Genotype imputation for genome-wide association studies. Nat Rev Genet (2010) 14.59
An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genet Epidemiol (2010) 10.54
Integrative analysis of 111 reference human epigenomes. Nature (2015) 10.32
Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med (2008) 7.66
Genetically distinct subsets within ANCA-associated vasculitis. N Engl J Med (2012) 6.93
Prioritizing GWAS results: A review of statistical methods and recommendations for their application. Am J Hum Genet (2010) 5.39
A ChIP-seq defined genome-wide map of vitamin D receptor binding: associations with disease and evolution. Genome Res (2010) 4.77
Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nat Genet (2009) 4.72
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The PhenX Toolkit: get the most from your measures. Am J Epidemiol (2011) 4.19
Progress and promise of genome-wide association studies for human complex trait genetics. Genetics (2010) 3.81
From disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes. PLoS Genet (2009) 2.99
Genomic privacy and limits of individual detection in a pool. Nat Genet (2009) 2.60
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. N Engl J Med (2010) 2.47
The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes. Nat Genet (2009) 2.38
BACH2 represses effector programs to stabilize T(reg)-mediated immune homeostasis. Nature (2013) 2.36
Pathway analysis of GWAS provides new insights into genetic susceptibility to 3 inflammatory diseases. PLoS One (2009) 2.03
Genome-wide scan for linkage to type 1 diabetes in 2,496 multiplex families from the Type 1 Diabetes Genetics Consortium. Diabetes (2009) 2.02
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. Nat Genet (2012) 2.02
No association of multiple type 2 diabetes loci with type 1 diabetes. Diabetologia (2009) 1.92
Replication in genome-wide association studies. Stat Sci (2009) 1.89
Defects in IL-2R signaling contribute to diminished maintenance of FOXP3 expression in CD4(+)CD25(+) regulatory T-cells of type 1 diabetic subjects. Diabetes (2009) 1.88
Pathogenesis of type 1 diabetes mellitus: interplay between enterovirus and host. Nat Rev Endocrinol (2010) 1.85
Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. Hum Mol Genet (2010) 1.81
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nat Genet (2012) 1.81
Genetics of type 1 diabetes: what's next? Diabetes (2010) 1.80
Meta-analysis derived (MAD) transcriptome of psoriasis defines the "core" pathogenesis of disease. PLoS One (2012) 1.70
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. PLoS Genet (2011) 1.68
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. PLoS Genet (2011) 1.60
Seven newly identified loci for autoimmune thyroid disease. Hum Mol Genet (2012) 1.57
ImmunoChip study implicates antigen presentation to T cells in narcolepsy. PLoS Genet (2013) 1.55
Nuclear receptor coregulators: modulators of pathology and therapeutic targets. Nat Rev Endocrinol (2012) 1.55
Alcohol consumption indices of genetic risk for alcohol dependence. Biol Psychiatry (2009) 1.54
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. PLoS Genet (2013) 1.52
Unraveling the genetics of autoimmunity. Cell (2010) 1.51
The impact of phenotypic and genetic heterogeneity on results of genome wide association studies of complex diseases. PLoS One (2013) 1.51
CCDC88B is a novel regulator of maturation and effector functions of T cells during pathological inflammation. J Exp Med (2014) 1.49
Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families. Genes Immun (2009) 1.42
Super-enhancers delineate disease-associated regulatory nodes in T cells. Nature (2015) 1.39
Genetics of type 1 diabetes. Clin Chem (2011) 1.37
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiol Dis (2012) 1.35
A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains. PLoS Genet (2011) 1.35
Type 1 diabetes-associated IL2RA variation lowers IL-2 signaling and contributes to diminished CD4+CD25+ regulatory T cell function. J Immunol (2012) 1.31
The pathogenesis and natural history of type 1 diabetes. Cold Spring Harb Perspect Med (2012) 1.30
Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene. Hum Mol Genet (2011) 1.29
Intersection of population variation and autoimmunity genetics in human T cell activation. Science (2014) 1.27
MDA5 and PTPN2, two candidate genes for type 1 diabetes, modify pancreatic beta-cell responses to the viral by-product double-stranded RNA. Hum Mol Genet (2010) 1.25
T1DBase: update 2011, organization and presentation of large-scale data sets for type 1 diabetes research. Nucleic Acids Res (2010) 1.23
Follow-up of 1715 SNPs from the Wellcome Trust Case Control Consortium genome-wide association study in type I diabetes families. Genes Immun (2009) 1.22
Type 1 diabetes in the BB rat: a polygenic disease. Diabetes (2009) 1.21
Finding common susceptibility variants for complex disease: past, present and future. Brief Funct Genomic Proteomic (2009) 1.20
Association between type 1 diabetes and GWAS SNPs in the southeast US Caucasian population. Genes Immun (2011) 1.18
Integrated enrichment analysis of variants and pathways in genome-wide association studies indicates central role for IL-2 signaling genes in type 1 diabetes, and cytokine signaling genes in Crohn's disease. PLoS Genet (2013) 1.14
Sex chromosomes and genetic association studies. Genome Med (2009) 1.13
Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk. Hum Hered (2010) 1.10
Bach2 maintains T cells in a naive state by suppressing effector memory-related genes. Proc Natl Acad Sci U S A (2013) 1.08
Genome-wide associations between genetic and epigenetic variation influence mRNA expression and insulin secretion in human pancreatic islets. PLoS Genet (2014) 1.06
Genetic susceptibility to type 2 diabetes and obesity: follow-up of findings from genome-wide association studies. Int J Endocrinol (2014) 1.04
Genetic basis of alopecia areata: a roadmap for translational research. Dermatol Clin (2012) 1.03
Latent autoimmune diabetes of the adult: current knowledge and uncertainty. Diabet Med (2015) 1.02
Current aspects of vitiligo genetics. Postepy Dermatol Alergol (2014) 1.01
Effects of non-HLA gene polymorphisms on development of islet autoimmunity and type 1 diabetes in a population with high-risk HLA-DR,DQ genotypes. Diabetes (2012) 1.01
The Menin-Bach2 axis is critical for regulating CD4 T-cell senescence and cytokine homeostasis. Nat Commun (2014) 1.00
PUMA: a unified framework for penalized multiple regression analysis of GWAS data. PLoS Comput Biol (2013) 1.00
Minireview: the SRC family of coactivators: an entrée to understanding a subset of polygenic diseases? Mol Endocrinol (2009) 0.99
Presence of multiple independent effects in risk loci of common complex human diseases. Am J Hum Genet (2012) 0.99
The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome. Genes Immun (2009) 0.98
Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies. J Med Genet (2009) 0.95
Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex. Hum Mol Genet (2011) 0.95
Idd9.1 locus controls the suppressive activity of FoxP3+CD4+CD25+ regulatory T-cells. Diabetes (2009) 0.94
Integration of disease association and eQTL data using a Bayesian colocalisation approach highlights six candidate causal genes in immune-mediated diseases. Hum Mol Genet (2015) 0.94
Insights to the genetics of diabetic nephropathy through a genome-wide association study of the GoKinD collection. Semin Nephrol (2010) 0.93
Genetically dependent ERBB3 expression modulates antigen presenting cell function and type 1 diabetes risk. PLoS One (2010) 0.93
CTSH regulates β-cell function and disease progression in newly diagnosed type 1 diabetes patients. Proc Natl Acad Sci U S A (2014) 0.91
Testing for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in a European family-based study. Arthritis Res Ther (2009) 0.90
Nonsegmental vitiligo and autoimmune mechanism. Dermatol Res Pract (2011) 0.89
Immunogenetics of type 1 diabetes mellitus. Mol Aspects Med (2015) 0.89
Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells. Nat Commun (2015) 0.88
Evaluation of BLID and LOC399959 as candidate genes for high myopia in the Chinese Han population. Mol Vis (2010) 0.88
The genetics of blood pressure and hypertension: the role of rare variation. Cardiovasc Ther (2010) 0.88
Genetic Epidemiology of Psoriasis. Curr Dermatol Rep (2014) 0.87
GWASs and the age of human as the model organism for autoimmune genetic research. Genome Biol (2010) 0.87
The yin and yang of protein kinase C-theta (PKCθ): a novel drug target for selective immunosuppression. Adv Pharmacol (2013) 0.87
A general framework for two-stage analysis of genome-wide association studies and its application to case-control studies. Am J Hum Genet (2012) 0.87
Evidence of association with type 1 diabetes in the SLC11A1 gene region. BMC Med Genet (2011) 0.86
Altered immune regulation in type 1 diabetes. Clin Dev Immunol (2013) 0.85
Improving prediction of type 1 diabetes by testing non-HLA genetic variants in addition to HLA markers. Pediatr Diabetes (2013) 0.85
Effects of GWAS-associated genetic variants on lncRNAs within IBD and T1D candidate loci. PLoS One (2014) 0.85
Empirical evaluations of analytical issues arising from predicting HLA alleles using multiple SNPs. BMC Genet (2011) 0.85
Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis. Arthritis Rheum (2012) 0.85
Single-nucleotide polymorphisms in the IL2RA gene are associated with age at diagnosis in late-onset Finnish type 1 diabetes subjects. Immunogenetics (2009) 0.85
Differential effects of leptin receptor mutation on male and female BBDR Gimap5-/Gimap5- spontaneously diabetic rats. Physiol Genomics (2009) 0.85
A survey on computer aided diagnosis for ocular diseases. BMC Med Inform Decis Mak (2014) 0.85
Identification of novel risk genes associated with type 1 diabetes mellitus using a genome-wide gene-based association analysis. J Diabetes Investig (2014) 0.84
Meta-analysis of genetic association studies under heterogeneity. Eur J Hum Genet (2012) 0.84
Expression profiling of human genetic and protein interaction networks in type 1 diabetes. PLoS One (2009) 0.84
No association of the IRS1 and PAX4 genes with type I diabetes. Genes Immun (2009) 0.84
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature (2007) 144.95
Large-scale analysis of the human and mouse transcriptomes. Proc Natl Acad Sci U S A (2002) 25.47
Population structure, differential bias and genomic control in a large-scale, case-control association study. Nat Genet (2005) 25.34
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet (2007) 19.04
New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat Genet (2007) 13.76
A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Nat Genet (2006) 8.65
Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. Nat Genet (2007) 6.11
Genetics of Kidneys in Diabetes (GoKinD) study: a genetics collection available for identifying genetic susceptibility factors for diabetic nephropathy in type 1 diabetes. J Am Soc Nephrol (2006) 3.12
A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. Diabetes (2008) 2.90
PTPN22 Trp620 explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes. Diabetes (2008) 2.74
Protein kinase C theta (PKCtheta): a key player in T cell life and death. Pharmacol Res (2007) 2.31
Identification of Bach2 as a B-cell-specific partner for small maf proteins that negatively regulate the immunoglobulin heavy chain gene 3' enhancer. EMBO J (1998) 2.13
PKCtheta: A potential therapeutic target for T-cell-mediated diseases. Curr Opin Investig Drugs (2006) 1.37
The role of Bach2 in nucleic acid-triggered antiviral innate immune responses. Biochem Biophys Res Commun (2007) 1.34
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science (2007) 37.88
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science (2007) 32.97
Population structure, differential bias and genomic control in a large-scale, case-control association study. Nat Genet (2005) 25.34
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet (2007) 19.04
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nat Genet (2009) 16.53
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science (2009) 16.35
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
Common deletion polymorphisms in the human genome. Nat Genet (2006) 15.66
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet (2006) 15.63
Detecting disease associations due to linkage disequilibrium using haplotype tags: a class of tests and the determinants of statistical power. Hum Hered (2003) 14.37
Genome-wide association studies: theoretical and practical concerns. Nat Rev Genet (2005) 14.30
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Genet (2007) 13.74
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature (2003) 13.00
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Prepublication data sharing. Nature (2009) 12.24
Complete MHC haplotype sequencing for common disease gene mapping. Genome Res (2004) 12.09
The pattern of polymorphism in Arabidopsis thaliana. PLoS Biol (2005) 10.13
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet (2011) 9.10
Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet (2010) 8.89
A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Nat Genet (2006) 8.65
The zebrafish reference genome sequence and its relationship to the human genome. Nature (2013) 8.52
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet (2011) 7.98
Regression of microalbuminuria in type 1 diabetes. N Engl J Med (2003) 7.67
Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med (2008) 7.66
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One (2008) 7.16
Gut microbiomes of Malawian twin pairs discordant for kwashiorkor. Science (2013) 6.98
Multiple common variants for celiac disease influencing immune gene expression. Nat Genet (2010) 6.90
Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature (2007) 6.67
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet (2011) 6.36
Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. Nat Genet (2007) 6.11
Recombination and linkage disequilibrium in Arabidopsis thaliana. Nat Genet (2007) 5.69
Interleukin-2 gene variation impairs regulatory T cell function and causes autoimmunity. Nat Genet (2007) 5.68
Markov chain Monte Carlo without likelihoods. Proc Natl Acad Sci U S A (2003) 5.67
Robust relationship inference in genome-wide association studies. Bioinformatics (2010) 5.57
Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nat Genet (2008) 4.96
HLA DR-DQ haplotypes and genotypes and type 1 diabetes risk: analysis of the type 1 diabetes genetics consortium families. Diabetes (2008) 4.94
Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. Diabetes (2004) 4.81
A robust statistical method for case-control association testing with copy number variation. Nat Genet (2008) 4.78
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nat Genet (2009) 4.61
A method to address differential bias in genotyping in large-scale association studies. PLoS Genet (2007) 4.51
Microalbuminuria and the risk for early progressive renal function decline in type 1 diabetes. J Am Soc Nephrol (2007) 4.48
Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet (2011) 4.42
Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms. Am J Hum Genet (2005) 4.36
Evaluating the effects of imputation on the power, coverage, and cost efficiency of genome-wide SNP platforms. Am J Hum Genet (2008) 4.28
Variation analysis and gene annotation of eight MHC haplotypes: the MHC Haplotype Project. Immunogenetics (2008) 4.25
The UK10K project identifies rare variants in health and disease. Nature (2015) 3.89
Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82
Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource. Nat Genet (2009) 3.59
Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing. Hum Mol Genet (2010) 3.50
Detection of renal function decline in patients with diabetes and normal or elevated GFR by serial measurements of serum cystatin C concentration: results of a 4-year follow-up study. J Am Soc Nephrol (2005) 3.48
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet (2010) 3.34
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science (2013) 3.33
Bayesian refinement of association signals for 14 loci in 3 common diseases. Nat Genet (2012) 3.31
T1DBase: integration and presentation of complex data for type 1 diabetes research. Nucleic Acids Res (2006) 3.25
Association of the interleukin-2 receptor alpha (IL-2Ralpha)/CD25 gene region with Graves' disease using a multilocus test and tag SNPs. Clin Endocrinol (Oxf) (2007) 3.17
Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes. Diabetes (2009) 3.16