Published in Nat Genet on October 21, 2007
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A (2009) 54.68
A HapMap harvest of insights into the genetics of common disease. J Clin Invest (2008) 18.31
Human genetic variation and its contribution to complex traits. Nat Rev Genet (2009) 12.11
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet (2013) 9.46
Signals of recent positive selection in a worldwide sample of human populations. Genome Res (2009) 8.38
Genome-wide association studies: potential next steps on a genetic journey. Hum Mol Genet (2008) 7.54
Mapping cis- and trans-regulatory effects across multiple tissues in twins. Nat Genet (2012) 6.97
African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu Rev Genomics Hum Genet (2008) 6.06
Web-based, participant-driven studies yield novel genetic associations for common traits. PLoS Genet (2010) 5.02
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet (2008) 4.57
A genome-wide association study of hypertension and blood pressure in African Americans. PLoS Genet (2009) 4.28
The genetics of human adaptation: hard sweeps, soft sweeps, and polygenic adaptation. Curr Biol (2010) 4.25
New common variants affecting susceptibility to basal cell carcinoma. Nat Genet (2009) 4.15
The role of geography in human adaptation. PLoS Genet (2009) 3.41
Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA. Nature (2014) 3.24
How culture shaped the human genome: bringing genetics and the human sciences together. Nat Rev Genet (2010) 3.21
A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. Am J Hum Genet (2008) 3.00
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. Nature (2011) 2.96
Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. Nat Genet (2009) 2.85
Adaptations to climate in candidate genes for common metabolic disorders. PLoS Genet (2008) 2.68
Using environmental correlations to identify loci underlying local adaptation. Genetics (2010) 2.52
A molecular basis for classic blond hair color in Europeans. Nat Genet (2014) 2.45
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. Nat Genet (2011) 2.43
Genomic patterns of homozygosity in worldwide human populations. Am J Hum Genet (2012) 2.30
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. Hum Mol Genet (2011) 2.26
The QTN program and the alleles that matter for evolution: all that's gold does not glitter. Evolution (2011) 2.23
The advantages and limitations of trait analysis with GWAS: a review. Plant Methods (2013) 2.08
Interactive effect of stressful life events and the serotonin transporter 5-HTTLPR genotype on posttraumatic stress disorder diagnosis in 2 independent populations. Arch Gen Psychiatry (2009) 1.97
Genome-wide scans for footprints of natural selection. Philos Trans R Soc Lond B Biol Sci (2010) 1.84
Isolated populations and complex disease gene identification. Genome Biol (2008) 1.83
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nat Genet (2012) 1.81
The melanomas: a synthesis of epidemiological, clinical, histopathological, genetic, and biological aspects, supporting distinct subtypes, causal pathways, and cells of origin. Pigment Cell Melanoma Res (2011) 1.81
Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. J Invest Dermatol (2009) 1.81
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway. Cell (2013) 1.75
Genome-wide association studies and beyond. Annu Rev Public Health (2010) 1.73
Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Int J Cancer (2009) 1.69
Considerations for designing a prototype genetic test for use in translational research. Public Health Genomics (2009) 1.67
Genome-wide siRNA-based functional genomics of pigmentation identifies novel genes and pathways that impact melanogenesis in human cells. PLoS Genet (2008) 1.64
Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development. J Invest Dermatol (2012) 1.56
IRF4 variants have age-specific effects on nevus count and predispose to melanoma. Am J Hum Genet (2010) 1.55
Convergence in pigmentation at multiple levels: mutations, genes and function. Philos Trans R Soc Lond B Biol Sci (2010) 1.54
Man's best friend becomes biology's best in show: genome analyses in the domestic dog. Annu Rev Genet (2010) 1.51
Genome-wide association study of tanning phenotype in a population of European ancestry. J Invest Dermatol (2009) 1.50
Digital quantification of human eye color highlights genetic association of three new loci. PLoS Genet (2010) 1.45
Predicting phenotype from genotype: normal pigmentation. J Forensic Sci (2010) 1.43
Vitamin D receptor gene polymorphisms, serum 25-hydroxyvitamin D levels, and melanoma: UK case-control comparisons and a meta-analysis of published VDR data. Eur J Cancer (2009) 1.42
Rapid inexpensive genome-wide association using pooled whole blood. Genome Res (2009) 1.41
Genetic architecture of cancer and other complex diseases: lessons learned and future directions. Carcinogenesis (2011) 1.39
CANDID: a flexible method for prioritizing candidate genes for complex human traits. Genet Epidemiol (2008) 1.36
Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y. Proc Natl Acad Sci U S A (2014) 1.34
Signatures of diversifying selection in European pig breeds. PLoS Genet (2013) 1.30
Whole-genome genetic diversity in a sample of Australians with deep Aboriginal ancestry. Am J Hum Genet (2010) 1.29
Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis. Pigment Cell Melanoma Res (2010) 1.28
Genetic architecture of skin and eye color in an African-European admixed population. PLoS Genet (2013) 1.28
Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D. PLoS One (2012) 1.28
Why some women look young for their age. PLoS One (2009) 1.24
Relationship between sun exposure and melanoma risk for tumours in different body sites in a large case-control study in a temperate climate. Eur J Cancer (2011) 1.24
Genomewide association study for onset age in Parkinson disease. BMC Med Genet (2009) 1.24
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. Hum Mol Genet (2013) 1.23
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nat Genet (2015) 1.23
Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma. Hum Mol Genet (2011) 1.23
Genetics and visceral leishmaniasis: of mice and man. Parasite Immunol (2009) 1.21
Genetic risk factors for melanoma. Hum Genet (2009) 1.21
Melanoma epidemiology. Hematol Oncol Clin North Am (2009) 1.21
Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review. Am J Epidemiol (2010) 1.21
Model-based prediction of human hair color using DNA variants. Hum Genet (2011) 1.20
Late-Onset Alzheimer's Disease Genes and the Potentially Implicated Pathways. Curr Genet Med Rep (2014) 1.18
Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival. J Natl Cancer Inst (2010) 1.17
Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. Neurobiol Aging (2013) 1.17
The genetic architecture of complex traits in teosinte (Zea mays ssp. parviglumis): new evidence from association mapping. Genetics (2008) 1.16
Challenges in conducting genome-wide association studies in highly admixed multi-ethnic populations: the Generation R Study. Eur J Epidemiol (2015) 1.16
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. PLoS One (2013) 1.16
Mapping loci associated with tail color and sex determination in the short-lived fish Nothobranchius furzeri. Genetics (2009) 1.12
Human pigmentation genes under environmental selection. Genome Biol (2012) 1.11
Inverted low-copy repeats and genome instability--a genome-wide analysis. Hum Mutat (2012) 1.09
A global view of the OCA2-HERC2 region and pigmentation. Hum Genet (2011) 1.08
Evidence for hitchhiking of deleterious mutations within the human genome. PLoS Genet (2011) 1.08
Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations. PLoS One (2012) 1.07
Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function. Mol Biol Cell (2008) 1.07
A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia. Hum Genet (2008) 1.06
Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study. J Natl Cancer Inst (2010) 1.04
Cuba: exploring the history of admixture and the genetic basis of pigmentation using autosomal and uniparental markers. PLoS Genet (2014) 1.02
Melanesian blond hair is caused by an amino acid change in TYRP1. Science (2012) 1.01
Current aspects of vitiligo genetics. Postepy Dermatol Alergol (2014) 1.01
GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development. Am J Hum Genet (2011) 1.01
Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma. J Invest Dermatol (2016) 1.01
Microarray analysis sheds light on the dedifferentiating role of agouti signal protein in murine melanocytes via the Mc1r. Proc Natl Acad Sci U S A (2009) 1.00
Exploring signatures of positive selection in pigmentation candidate genes in populations of East Asian ancestry. BMC Evol Biol (2013) 0.99
Protein interaction network topology uncovers melanogenesis regulatory network components within functional genomics datasets. BMC Syst Biol (2010) 0.98
Inactivation of Pmel alters melanosome shape but has only a subtle effect on visible pigmentation. PLoS Genet (2011) 0.97
Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap-CEU populations. Eur J Hum Genet (2009) 0.96
Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans. Hum Genet (2012) 0.95
{alpha}MSH and Cyclic AMP elevating agents control melanosome pH through a protein kinase A-independent mechanism. J Biol Chem (2009) 0.95
Association of genetic variants with self-assessed color categories in Brazilians. PLoS One (2014) 0.95
Host genetic and epigenetic factors in toxoplasmosis. Mem Inst Oswaldo Cruz (2009) 0.95
Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes. Mol Biol Cell (2012) 0.94
Physical and neurobehavioral determinants of reproductive onset and success. Nat Genet (2016) 0.94
Review: The genetics of Alzheimer's disease; putting flesh on the bones. Neuropathol Appl Neurobiol (2014) 0.93
Ten years of genetics and genomics: what have we achieved and where are we heading? Nat Rev Genet (2010) 0.93
Use of cell lines in the investigation of pharmacogenetic loci. Curr Pharm Des (2009) 0.93
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
A high-resolution recombination map of the human genome. Nat Genet (2002) 28.66
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Genetics of gene expression and its effect on disease. Nature (2008) 21.35
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
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
Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet (2007) 19.18
Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet (2006) 19.03
A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science (2007) 18.96
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
A common inversion under selection in Europeans. Nat Genet (2005) 13.66
A common variant associated with prostate cancer in European and African populations. Nat Genet (2006) 13.47
A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet (2007) 13.28
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Many sequence variants affecting diversity of adult human height. Nat Genet (2008) 12.80
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet (2007) 12.65
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. Nat Genet (2008) 12.43
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19