Published in Nat Genet on August 27, 2006
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Genotype imputation. Annu Rev Genomics Hum Genet (2009) 18.64
Genetic mapping in human disease. Science (2008) 15.12
Human genetic variation and its contribution to complex traits. Nat Rev Genet (2009) 12.11
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet (2007) 8.74
Prediction of individual genetic risk to disease from genome-wide association studies. Genome Res (2007) 8.48
Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. Lancet (2008) 7.05
Whole-genome association study of bipolar disorder. Mol Psychiatry (2008) 6.80
Molecular networks as sensors and drivers of common human diseases. Nature (2009) 6.14
Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci U S A (2007) 4.71
Validating, augmenting and refining genome-wide association signals. Nat Rev Genet (2009) 4.56
Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N Engl J Med (2008) 4.46
Common disorders are quantitative traits. Nat Rev Genet (2009) 4.34
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers. PLoS Genet (2009) 4.22
Progress and promise of genome-wide association studies for human complex trait genetics. Genetics (2010) 3.81
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet (2011) 3.55
A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci U S A (2007) 3.50
Finding the sources of missing heritability in a yeast cross. Nature (2013) 3.43
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci U S A (2010) 3.33
Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet (2008) 3.29
Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat Genet (2011) 3.15
Beyond odds ratios--communicating disease risk based on genetic profiles. Nat Rev Genet (2009) 3.01
Validating therapeutic targets through human genetics. Nat Rev Drug Discov (2013) 2.94
Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. Invest Ophthalmol Vis Sci (2008) 2.91
Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis. Hum Genet (2007) 2.78
Vascular endothelial growth factor in eye disease. Prog Retin Eye Res (2008) 2.73
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44
Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genomics Hum Genet (2009) 2.40
Murine ccl2/cx3cr1 deficiency results in retinal lesions mimicking human age-related macular degeneration. Invest Ophthalmol Vis Sci (2007) 2.36
The QTN program and the alleles that matter for evolution: all that's gold does not glitter. Evolution (2011) 2.23
Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H. Clin Exp Immunol (2008) 2.19
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Hum Mol Genet (2011) 1.98
Estimating risks of common complex diseases across genetic and environmental factors: the example of Crohn disease. J Med Genet (2007) 1.97
Molecular genetic studies of complex phenotypes. Transl Res (2011) 1.95
An update on the genetics of age-related macular degeneration. Mol Vis (2007) 1.95
Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes. Invest Ophthalmol Vis Sci (2009) 1.86
Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS Genet (2010) 1.83
Smoking, dietary betaine, methionine, and vitamin D in monozygotic twins with discordant macular degeneration: epigenetic implications. Ophthalmology (2011) 1.81
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Nat Genet (2013) 1.77
Molecular genetics of addiction and related heritable phenotypes: genome-wide association approaches identify "connectivity constellation" and drug target genes with pleiotropic effects. Ann N Y Acad Sci (2008) 1.69
Individuals homozygous for the age-related macular degeneration risk-conferring variant of complement factor H have elevated levels of CRP in the choroid. Proc Natl Acad Sci U S A (2006) 1.63
Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models. Invest Ophthalmol Vis Sci (2012) 1.63
Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors. Ophthalmology (2011) 1.61
Cumulative association of 22 genetic variants with seropositive rheumatoid arthritis risk. Ann Rheum Dis (2010) 1.53
A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2. PLoS Genet (2008) 1.53
Exchangeable models of complex inherited diseases. Genetics (2008) 1.53
Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency. Hum Mol Genet (2011) 1.53
Ophthalmic drug discovery: novel targets and mechanisms for retinal diseases and glaucoma. Nat Rev Drug Discov (2012) 1.52
Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population. Proc Natl Acad Sci U S A (2009) 1.51
Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility. PLoS Genet (2011) 1.49
Genetic epidemiology: successes and challenges of genome-wide association studies using the example of age-related macular degeneration. Am J Ophthalmol (2010) 1.48
Genome-based prediction of common diseases: methodological considerations for future research. Genome Med (2009) 1.46
Functional modules, mutational load and human genetic disease. Trends Genet (2010) 1.45
The aged retinal pigment epithelium/choroid: a potential substratum for the pathogenesis of age-related macular degeneration. PLoS One (2008) 1.44
CCR2(+) monocytes infiltrate atrophic lesions in age-related macular disease and mediate photoreceptor degeneration in experimental subretinal inflammation in Cx3cr1 deficient mice. EMBO Mol Med (2013) 1.42
Assessing susceptibility to age-related macular degeneration with proteomic and genomic biomarkers. Mol Cell Proteomics (2009) 1.39
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate. Hum Mol Genet (2008) 1.39
Genetic architecture of cancer and other complex diseases: lessons learned and future directions. Carcinogenesis (2011) 1.39
Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD). Prog Retin Eye Res (2010) 1.39
Functional basis of protection against age-related macular degeneration conferred by a common polymorphism in complement factor B. Proc Natl Acad Sci U S A (2009) 1.36
Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent. Nat Genet (2010) 1.35
CRISPLD2: a novel NSCLP candidate gene. Hum Mol Genet (2007) 1.32
Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration. Invest Ophthalmol Vis Sci (2011) 1.30
A functional variant in the CFI gene confers a high risk of age-related macular degeneration. Nat Genet (2013) 1.29
Serum lipid biomarkers and hepatic lipase gene associations with age-related macular degeneration. Ophthalmology (2010) 1.29
Basal laminar drusen caused by compound heterozygous variants in the CFH gene. Am J Hum Genet (2008) 1.27
Harnessing gene expression to identify the genetic basis of drug resistance. Mol Syst Biol (2009) 1.24
Age-related macular degeneration: genetic and environmental factors of disease. Mol Interv (2010) 1.24
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration. Nat Genet (2013) 1.23
Child development and molecular genetics: 14 years later. Child Dev (2012) 1.23
Inherited mitochondrial DNA variants can affect complement, inflammation and apoptosis pathways: insights into mitochondrial-nuclear interactions. Hum Mol Genet (2014) 1.23
C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes. PLoS One (2008) 1.22
The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. BMC Med Genet (2008) 1.22
Rhesus monkeys and humans share common susceptibility genes for age-related macular disease. Hum Mol Genet (2008) 1.20
Immunological protein expression profile in Ccl2/Cx3cr1 deficient mice with lesions similar to age-related macular degeneration. Exp Eye Res (2008) 1.19
ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration. Am J Ophthalmol (2010) 1.19
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. Hum Mol Genet (2012) 1.18
The LOC387715 polymorphism and age-related macular degeneration: replication in three case-control samples. Invest Ophthalmol Vis Sci (2007) 1.17
Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy. Prog Retin Eye Res (2014) 1.17
Genetics of age-related macular degeneration: current concepts, future directions. Semin Ophthalmol (2011) 1.16
The role of the immune response in age-related macular degeneration. Int J Inflam (2013) 1.16
Complement factor H genotypes impact risk of age-related macular degeneration by interaction with oxidized phospholipids. Proc Natl Acad Sci U S A (2012) 1.16
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. Genes Immun (2010) 1.16
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. Ophthalmology (2012) 1.16
Human HtrA1 in the archived eyes with age-related macular degeneration. Trans Am Ophthalmol Soc (2007) 1.15
Genetic markers and biomarkers for age-related macular degeneration. Expert Rev Ophthalmol (2007) 1.15
LOC387715/HTRA1 gene polymorphisms and susceptibility to age-related macular degeneration: A HuGE review and meta-analysis. Mol Vis (2010) 1.11
Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors. Arch Ophthalmol (2011) 1.10
Dietary omega-3 fatty acids, other fat intake, genetic susceptibility, and progression to incident geographic atrophy. Ophthalmology (2013) 1.08
Associations of smoking, body mass index, dietary lutein, and the LIPC gene variant rs10468017 with advanced age-related macular degeneration. Mol Vis (2010) 1.08
Toll-like receptor 3 is required for development of retinopathy caused by impaired all-trans-retinal clearance in mice. J Biol Chem (2011) 1.08
Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management. Ophthalmology (2012) 1.07
The HtrA1 promoter polymorphism, smoking, and age-related macular degeneration in multiple case-control samples. Ophthalmology (2008) 1.07
The role of complement in ocular pathology. Semin Immunopathol (2008) 1.07
The role of vascular endothelial growth factor-induced activation of NADPH oxidase in choroidal endothelial cells and choroidal neovascularization. Am J Pathol (2010) 1.06
A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. PLoS One (2011) 1.05
Coding variant Met72Thr in the PEDF gene and risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Mol Vis (2009) 1.04
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet (2003) 53.59
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (2007) 51.70
The structure of haplotype blocks in the human genome. Science (2002) 50.88
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Genome-wide association studies for common diseases and complex traits. Nat Rev Genet (2005) 33.96
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
The landscape of somatic copy-number alteration across human cancers. Nature (2010) 31.88
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet (2008) 30.20
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science (2006) 27.49
Efficiency and power in genetic association studies. Nat Genet (2005) 25.56
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature (2005) 23.04
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Detecting recent positive selection in the human genome from haplotype structure. Nature (2002) 22.00
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet (2008) 19.55
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet (2007) 19.08
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med (2007) 17.06
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Assessing the impact of population stratification on genetic association studies. Nat Genet (2004) 16.28
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
Replicating genotype-phenotype associations. Nature (2007) 16.11
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
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
Genetic mapping in human disease. Science (2008) 15.12
Calibrating a coalescent simulation of human genome sequence variation. Genome Res (2005) 15.04
Evaluating and improving power in whole-genome association studies using fixed marker sets. Nat Genet (2006) 14.76
Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet (2007) 14.37
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
Efficient control of population structure in model organism association mapping. Genetics (2008) 12.32
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. N Engl J Med (2007) 12.24
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet (2008) 12.07
Methods for high-density admixture mapping of disease genes. Am J Hum Genet (2004) 12.02
Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol (2008) 11.28
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
A high-density admixture map for disease gene discovery in african americans. Am J Hum Genet (2004) 10.87
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet (2008) 10.49
Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men. Proc Natl Acad Sci U S A (2006) 10.32
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet (2008) 9.52
Demonstrating stratification in a European American population. Nat Genet (2005) 9.49
Testing for an unusual distribution of rare variants. PLoS Genet (2011) 9.28
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet (2007) 8.74