Published in PLoS Genet on May 06, 2010
Phenomics: the next challenge. Nat Rev Genet (2010) 4.20
HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter. Genome Res (2012) 1.96
A genome-wide association study identifies five loci influencing facial morphology in Europeans. PLoS Genet (2012) 1.91
Admixture in Latin America: geographic structure, phenotypic diversity and self-perception of ancestry based on 7,342 individuals. PLoS Genet (2014) 1.60
Complex inheritance of melanoma and pigmentation of coat and skin in Grey horses. PLoS Genet (2013) 1.39
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiol Dis (2012) 1.35
Patterns of coding variation in the complete exomes of three Neandertals. Proc Natl Acad Sci U S A (2014) 1.29
Genetic architecture of skin and eye color in an African-European admixed population. PLoS Genet (2013) 1.28
Model-based prediction of human hair color using DNA variants. Hum Genet (2011) 1.20
The timing of pigmentation lightening in Europeans. Mol Biol Evol (2012) 1.13
A global view of the OCA2-HERC2 region and pigmentation. Hum 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
GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development. Am J Hum Genet (2011) 1.01
Exploring signatures of positive selection in pigmentation candidate genes in populations of East Asian ancestry. BMC Evol Biol (2013) 0.99
The genome in three dimensions: a new frontier in human brain research. Biol Psychiatry (2013) 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
Improved eye- and skin-color prediction based on 8 SNPs. Croat Med J (2013) 0.90
Why it is hard to find genes associated with social science traits: theoretical and empirical considerations. Am J Public Health (2013) 0.87
Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. Hum Genet (2015) 0.85
Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example. PLoS One (2011) 0.83
Microarray analysis of iris gene expression in mice with mutations influencing pigmentation. Invest Ophthalmol Vis Sci (2011) 0.80
Allelic frequencies of 20 visible phenotype variants in the korean population. Genomics Inform (2013) 0.78
Estimating the Ages of Selection Signals from Different Epochs in Human History. Mol Biol Evol (2015) 0.77
Prediction of eye color in the Slovenian population using the IrisPlex SNPs. Croat Med J (2013) 0.77
Demographically-Based Evaluation of Genomic Regions under Selection in Domestic Dogs. PLoS Genet (2016) 0.77
Prediction of male-pattern baldness from genotypes. Eur J Hum Genet (2015) 0.76
The convergent evolution of blue iris pigmentation in primates took distinct molecular paths. Am J Phys Anthropol (2013) 0.76
Further evidence for population specific differences in the effect of DNA markers and gender on eye colour prediction in forensics. Int J Legal Med (2016) 0.75
Novel quantitative pigmentation phenotyping enhances genetic association, epistasis, and prediction of human eye colour. Sci Rep (2017) 0.75
The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population. Eur J Hum Genet (2015) 0.75
Genome-wide association for milk production and female fertility traits in Canadian dairy Holstein cattle. BMC Genet (2016) 0.75
Analysis of iris surface features in populations of diverse ancestry. R Soc Open Sci (2016) 0.75
Signatures of natural selection on genetic variants affecting complex human traits. Appl Transl Genom (2013) 0.75
First all-in-one diagnostic tool for DNA intelligence: genome-wide inference of biogeographic ancestry, appearance, relatedness, and sex with the Identitas v1 Forensic Chip. Int J Legal Med (2012) 0.75
Evolutionary history inferred from the de novo assembly of a nonmodel organism, the blue-eyed black lemur. Mol Ecol (2015) 0.75
DSCR9 gene simultaneous expression in placental, testicular and renal tissues from baboon (Papio hamadryas). BMC Res Notes (2012) 0.75
Global skin colour prediction from DNA. Hum Genet (2017) 0.75
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics (2004) 125.23
Merlin--rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet (2001) 53.16
Personal genomes: The case of the missing heritability. Nature (2008) 19.56
Genotype imputation. Annu Rev Genomics Hum Genet (2009) 18.64
GenABEL: an R library for genome-wide association analysis. Bioinformatics (2007) 18.10
Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet (2007) 8.79
Determinants of disease and disability in the elderly: the Rotterdam Elderly Study. Eur J Epidemiol (1991) 7.67
The Rotterdam Study: objectives and design update. Eur J Epidemiol (2007) 5.78
Common variants at ten loci influence QT interval duration in the QTGEN Study. Nat Genet (2009) 5.20
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet (2008) 4.57
The Rotterdam Study: 2010 objectives and design update. Eur J Epidemiol (2009) 3.44
Two newly identified genetic determinants of pigmentation in Europeans. Nat Genet (2008) 3.31
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
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. Hum Genet (2008) 2.55
Chediak-Higashi syndrome. Curr Opin Hematol (2008) 2.23
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Am J Hum Genet (2006) 2.14
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet (2008) 2.09
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. Hum Mol Genet (2009) 2.03
DNA-based prediction of human externally visible characteristics in forensics: motivations, scientific challenges, and ethical considerations. Forensic Sci Int Genet (2009) 1.98
The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans. Hum Genet (2005) 1.97
A genome-wide scan for naevus count: linkage to CDKN2A and to other chromosome regions. Eur J Hum Genet (2006) 1.70
Molecular genetic analysis of Down syndrome. Hum Genet (2009) 1.52
Eye color and the prediction of complex phenotypes from genotypes. Curr Biol (2009) 1.47
IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information. Forensic Sci Int Genet (2010) 1.46
A scan for signatures of positive selection in candidate loci for skin pigmentation in humans. Mol Biol Evol (2006) 1.44
Human pigmentation variation: evolution, genetic basis, and implications for public health. Am J Phys Anthropol (2007) 1.34
KRAS variation and risk of endometriosis. Mol Hum Reprod (2006) 1.33
Pharmacogenetics of Gilbert's syndrome. Pharmacogenomics (2008) 1.28
Genetics of human iris colour and patterns. Pigment Cell Melanoma Res (2009) 1.21
Characteristic ocular findings in Asian children with Down syndrome. Eye (Lond) (2002) 1.08
A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium. J Med Genet (2009) 1.06
Primary care of infants and young children with Down syndrome. Am Fam Physician (1999) 1.04
Lyst mutation in mice recapitulates iris defects of human exfoliation syndrome. Invest Ophthalmol Vis Sci (2008) 1.00
UGT1A polymorphisms in a Swedish cohort and a human diversity panel, and the relation to bilirubin plasma levels in males and females. Eur J Clin Pharmacol (2006) 0.96
Genetic effects on coat colour in cattle: dilution of eumelanin and phaeomelanin pigments in an F2-Backcross Charolais x Holstein population. BMC Genet (2007) 0.95
Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation. Invest Ophthalmol Vis Sci (2008) 0.94
Identification of two novel primate-specific genes in DSCR. DNA Res (2002) 0.88
Rethingking human pigmentation. Am J Phys Anthropol (1975) 0.80
Human skin-color sexual dimorphism: a test of the sexual selection hypothesis. Am J Phys Anthropol (2007) 0.80
Importance of genetic effects for characteristics of the human iris. Twin Res (2003) 0.79
Common SNPs explain a large proportion of the heritability for human height. Nat Genet (2010) 35.02
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
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
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
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
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
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
Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs. Hum Mol Genet (2006) 13.16
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet (2008) 12.32
Genome-wide association study of blood pressure and hypertension. Nat Genet (2009) 11.54
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Silent brain infarcts and the risk of dementia and cognitive decline. N Engl J Med (2003) 10.61
Variant of TREM2 associated with the risk of Alzheimer's disease. N Engl J Med (2012) 10.16
Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat (2009) 9.66
Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA (2010) 9.52
Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet (2010) 8.89
Incidental findings on brain MRI in the general population. N Engl J Med (2007) 8.59
A versatile gene-based test for genome-wide association studies. Am J Hum Genet (2010) 8.44
Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: Design of prospective meta-analyses of genome-wide association studies from 5 cohorts. Circ Cardiovasc Genet (2009) 8.42
Escalation of drug use in early-onset cannabis users vs co-twin controls. JAMA (2003) 8.29
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
Arterial stiffness and risk of coronary heart disease and stroke: the Rotterdam Study. Circulation (2006) 8.18
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
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
Novel genes identified in a high-density genome wide association study for nicotine dependence. Hum Mol Genet (2006) 7.90
Host polymorphisms in interleukin 4, complement factor H, and C-reactive protein associated with nasal carriage of Staphylococcus aureus and occurrence of boils. J Infect Dis (2008) 7.45
Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings. PLoS Genet (2006) 7.13
Recent human effective population size estimated from linkage disequilibrium. Genome Res (2007) 6.79
Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet (2010) 6.49
Heritability of adult body height: a comparative study of twin cohorts in eight countries. Twin Res (2003) 6.43
C-reactive protein, fibrinogen, and cardiovascular disease prediction. N Engl J Med (2012) 6.39
A mega-analysis of genome-wide association studies for major depressive disorder. Mol Psychiatry (2012) 6.34
Prevalence, incidence and lifetime risk of atrial fibrillation: the Rotterdam study. Eur Heart J (2006) 6.31
DNA methylation profiles in monozygotic and dizygotic twins. Nat Genet (2009) 5.99
The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet (2011) 5.95
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. Lancet (2008) 5.89
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
The Rotterdam Study: objectives and design update. Eur J Epidemiol (2007) 5.78
New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat Genet (2012) 5.55
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet (2012) 5.48
Prolonged QTc interval and risk of sudden cardiac death in a population of older adults. J Am Coll Cardiol (2006) 5.39