Published in PLoS Biol on January 26, 2010
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet (2010) 14.81
Five years of GWAS discovery. Am J Hum Genet (2012) 12.97
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet (2010) 9.53
Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Nat Genet (2010) 9.07
Genome partitioning of genetic variation for complex traits using common SNPs. Nat Genet (2011) 8.57
Mapping cis- and trans-regulatory effects across multiple tissues in twins. Nat Genet (2012) 6.97
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Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet (2011) 6.36
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Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet (2011) 5.41
Genome-wide association study of leaf architecture in the maize nested association mapping population. Nat Genet (2011) 5.16
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ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. Nature (2010) 4.64
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nat Genet (2012) 4.41
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Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 4.13
Most genetic risk for autism resides with common variation. Nat Genet (2014) 4.10
Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD. PLoS Genet (2010) 3.91
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Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol (2010) 3.61
Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. PLoS Genet (2011) 3.56
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Consistent association of type 2 diabetes risk variants found in europeans in diverse racial and ethnic groups. PLoS Genet (2010) 3.27
Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. Nat Genet (2010) 3.22
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. Nat Genet (2013) 3.17
A two-stage meta-analysis identifies several new loci for Parkinson's disease. PLoS Genet (2011) 3.16
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A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease. Nat Genet (2015) 2.84
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Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat Genet (2010) 2.63
Synthetic associations created by rare variants do not explain most GWAS results. PLoS Biol (2011) 2.60
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. Nat Genet (2015) 2.59
Transethnic meta-analysis of genomewide association studies. Genet Epidemiol (2011) 2.53
Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. PLoS Genet (2011) 2.47
Chemotherapeutic drug susceptibility associated SNPs are enriched in expression quantitative trait loci. Proc Natl Acad Sci U S A (2010) 2.43
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The importance of phase information for human genomics. Nat Rev Genet (2011) 2.25
Imputation of the rare HOXB13 G84E mutation and cancer risk in a large population-based cohort. PLoS Genet (2015) 2.19
Using extended genealogy to estimate components of heritability for 23 quantitative and dichotomous traits. PLoS Genet (2013) 2.19
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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci U S A (2010) 2.10
Non-synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association. PLoS One (2010) 2.10
Most reported genetic associations with general intelligence are probably false positives. Psychol Sci (2012) 2.10
Generalization and dilution of association results from European GWAS in populations of non-European ancestry: the PAGE study. PLoS Biol (2013) 2.08
The advantages and limitations of trait analysis with GWAS: a review. Plant Methods (2013) 2.08
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Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles. Gastroenterology (2011) 2.01
Synthetic associations are unlikely to account for many common disease genome-wide association signals. PLoS Biol (2011) 2.00
A compendium of genome-wide associations for cancer: critical synopsis and reappraisal. J Natl Cancer Inst (2010) 2.00
Massive genomic variation and strong selection in Arabidopsis thaliana lines from Sweden. Nat Genet (2013) 1.96
Molecular genetic studies of complex phenotypes. Transl Res (2011) 1.95
Computer simulations: tools for population and evolutionary genetics. Nat Rev Genet (2012) 1.92
Association studies for next-generation sequencing. Genome Res (2011) 1.89
Aggregation of multiple sclerosis genetic risk variants in multiple and single case families. Ann Neurol (2011) 1.86
Case-control genome-wide association study of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry (2010) 1.86
Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association. Hum Mol Genet (2011) 1.83
A comprehensively molecular haplotype-resolved genome of a European individual. Genome Res (2011) 1.83
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Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature (2013) 1.79
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Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus. PLoS Genet (2010) 1.74
Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. Brain (2010) 1.67
Rare ADH variant constellations are specific for alcohol dependence. Alcohol Alcohol (2012) 1.66
Multiple genetic variant association testing by collapsing and kernel methods with pedigree or population structured data. Genet Epidemiol (2013) 1.60
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Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project. Am J Hum Genet (2012) 1.60
Common variants at 11q12, 10q26 and 3p11.2 are associated with prostate cancer susceptibility in Japanese. Nat Genet (2012) 1.59
Commercially available outbred mice for genome-wide association studies. PLoS Genet (2010) 1.58
Type 2 diabetes risk alleles demonstrate extreme directional differentiation among human populations, compared to other diseases. PLoS Genet (2012) 1.55
Quantifying missing heritability at known GWAS loci. PLoS Genet (2013) 1.55
Evolutionary evidence of the effect of rare variants on disease etiology. Clin Genet (2010) 1.54
Comprehensive functional annotation of 77 prostate cancer risk loci. PLoS Genet (2014) 1.48
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet (2012) 1.46
The genetics of attention deficit/hyperactivity disorder in adults, a review. Mol Psychiatry (2011) 1.46
Novel genetic locus implicated for HIV-1 acquisition with putative regulatory links to HIV replication and infectivity: a genome-wide association study. PLoS One (2015) 1.46
Use of a multiethnic approach to identify rheumatoid- arthritis-susceptibility loci, 1p36 and 17q12. Am J Hum Genet (2012) 1.46
Whole-genome nucleotide diversity, recombination, and linkage disequilibrium in the model legume Medicago truncatula. Proc Natl Acad Sci U S A (2011) 1.46
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The genetic architecture of type 2 diabetes. Nature (2016) 1.43
Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes. Am J Hum Genet (2013) 1.43
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Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nat Genet (2015) 1.39
Genetic architecture of cancer and other complex diseases: lessons learned and future directions. Carcinogenesis (2011) 1.39
Mapping rare and common causal alleles for complex human diseases. Cell (2011) 1.38
Evaluating empirical bounds on complex disease genetic architecture. Nat Genet (2013) 1.37
Genetic and environmental influences on neuroimaging phenotypes: a meta-analytical perspective on twin imaging studies. Twin Res Hum Genet (2012) 1.36
Synthetic associations in the context of genome-wide association scan signals. Hum Mol Genet (2010) 1.36
Most common single-nucleotide polymorphisms associated with rheumatoid arthritis in persons of European ancestry confer risk of rheumatoid arthritis in African Americans. Arthritis Rheum (2010) 1.34
Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation. Proc Natl Acad Sci U S A (2011) 1.33
The nature of confounding in genome-wide association studies. Nat Rev Genet (2012) 1.32
Genetic architecture of regulatory variation in Arabidopsis thaliana. Genome Res (2011) 1.32
High trans-ethnic replicability of GWAS results implies common causal variants. PLoS Genet (2013) 1.32
Consistent directions of effect for established type 2 diabetes risk variants across populations: the population architecture using Genomics and Epidemiology (PAGE) Consortium. Diabetes (2012) 1.31
Genetic diversity and linkage disequilibrium in Chinese bread wheat (Triticum aestivum L.) revealed by SSR markers. PLoS One (2011) 1.31
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Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
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Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science (2009) 16.35
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Dendroscope: An interactive viewer for large phylogenetic trees. BMC Bioinformatics (2007) 11.03
MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Nat Genet (2008) 9.50
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Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. Nat Genet (2007) 6.11
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A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med (2002) 4.00
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CD226 Gly307Ser association with multiple autoimmune diseases. Genes Immun (2008) 2.76
Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk. BMC Med Genet (2008) 2.63
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The CALM1 core promoter polymorphism is not associated with hip osteoarthritis in a United Kingdom Caucasian population. Osteoarthritis Cartilage (2005) 1.99
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Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Hum Mol Genet (2007) 1.83
A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese. Hum Mol Genet (2005) 1.67
Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci. Hum Genet (2008) 1.39
Human genetics: the hidden text of genome-wide associations. Curr Biol (2007) 1.39
SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians. Tissue Antigens (2007) 1.38
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GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Arch Otolaryngol Head Neck Surg (2005) 1.19
Genetic analysis of reelin gene (RELN) SNPs: no association with autism spectrum disorder in the Indian population. Neurosci Lett (2008) 1.13
Lack of association between the CALM1 core promoter polymorphism (-16C/T) and susceptibility to knee osteoarthritis in a Chinese Han population. BMC Med Genet (2008) 1.07
Finding the missing heritability of complex diseases. Nature (2009) 67.95
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Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance. Nature (2009) 26.47
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res (2007) 19.07
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
A whole-genome association study of major determinants for host control of HIV-1. Science (2007) 15.19
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Genetic variation in IL28B and spontaneous clearance of hepatitis C virus. Nature (2009) 13.99
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
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Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature (2009) 9.47
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet (2011) 7.98
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Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39
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The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. Nat Genet (2004) 5.31
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De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
Tissue-specific genetic control of splicing: implications for the study of complex traits. PLoS Biol (2008) 5.08
A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet (2009) 5.01
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
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ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. Nature (2010) 4.64
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HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nat Genet (2009) 4.11
Copy number variation at 1q21.1 associated with neuroblastoma. Nature (2009) 4.10
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HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N Engl J Med (2011) 3.93
Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82
Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. N Engl J Med (2008) 3.80
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Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64
IL28B genotype is associated with differential expression of intrahepatic interferon-stimulated genes in patients with chronic hepatitis C. Hepatology (2010) 3.57
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet (2011) 3.43
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42
Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. Am J Hum Genet (2009) 3.41
Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1. N Engl J Med (2003) 3.37
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. Nat Genet (2008) 3.36
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Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease. Am J Hum Genet (2009) 3.19
Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry (2010) 3.13
The landscape of recombination in African Americans. Nature (2011) 3.06
Sex differences in the structural connectome of the human brain. Proc Natl Acad Sci U S A (2013) 3.06
Long-range LD can confound genome scans in admixed populations. Am J Hum Genet (2008) 3.06
Systematic review and meta-analysis of the association between {beta}2-adrenoceptor polymorphisms and asthma: a HuGE review. Am J Epidemiol (2005) 3.00
From disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes. PLoS Genet (2009) 2.99
A systems biology approach to prediction of oncogenes and molecular perturbation targets in B-cell lymphomas. Mol Syst Biol (2008) 2.99
Hepatitis C pharmacogenetics: state of the art in 2010. Hepatology (2011) 2.99
Validation of candidate causal genes for obesity that affect shared metabolic pathways and networks. Nat Genet (2009) 2.97
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet (2011) 2.97
Thymic stromal lymphopoietin-elicited basophil responses promote eosinophilic esophagitis. Nat Med (2013) 2.94
A human B-cell interactome identifies MYB and FOXM1 as master regulators of proliferation in germinal centers. Mol Syst Biol (2010) 2.92
Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol (2010) 2.91
Host determinants of HIV-1 control in African Americans. J Infect Dis (2010) 2.90