Published in Am J Hum Genet on December 20, 2006
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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
Common variants in the trichohyalin gene are associated with straight hair in Europeans. Am J Hum Genet (2009) 3.18
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 genomewide association study of skin pigmentation in a South Asian population. Am J Hum Genet (2007) 2.58
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
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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
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. Mol Vis (2011) 1.00
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Multilocus OCA2 genotypes specify human iris colors. Hum Genet (2007) 0.94
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Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree. J Dermatol Sci (2012) 0.79
Prediction of eye color in the Slovenian population using the IrisPlex SNPs. Croat Med J (2013) 0.77
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The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population. Eur J Hum Genet (2015) 0.75
Evolutionary history inferred from the de novo assembly of a nonmodel organism, the blue-eyed black lemur. Mol Ecol (2015) 0.75
The international biological program/human adaptability studies among the Skolt Sami in Finland (1966-1970). Int J Circumpolar Health (2012) 0.75
Exploration of SNP variants affecting hair colour prediction in Europeans. Int J Legal Med (2015) 0.75
Global skin colour prediction from DNA. Hum Genet (2017) 0.75
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A map of recent positive selection in the human genome. PLoS Biol (2006) 29.19
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The epidemiology of UV induced skin cancer. J Photochem Photobiol B (2001) 5.05
Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? Am J Hum Genet (2000) 4.74
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Cis-acting regulatory variation in the human genome. Science (2004) 4.47
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature (1993) 3.24
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A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: a maximum-likelihood combined linkage and association analysis in twins and their sibs. Am J Hum Genet (1999) 2.15
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The genetics of sun sensitivity in humans. Am J Hum Genet (2004) 1.84
Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Hum Mol Genet (2004) 1.75
The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Res (2001) 1.69
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A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q. Twin Res (2004) 1.47
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet (1992) 1.45
KRAS variation and risk of endometriosis. Mol Hum Reprod (2006) 1.33
Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences. J Invest Dermatol (1997) 1.29
Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. Eur J Hum Genet (2005) 1.28
Skin colour and skin cancer - MC1R, the genetic link. Melanoma Res (2002) 1.24
MC1R and the response of melanocytes to ultraviolet radiation. Mutat Res (2005) 1.18
Eye colour: portals into pigmentation genes and ancestry. Trends Genet (2004) 1.17
Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. Am J Med Genet (1997) 1.15
P gene as an inherited biomarker of human eye color. Cancer Epidemiol Biomarkers Prev (2002) 1.15
The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes. Pigment Cell Res (2003) 1.12
Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. Hum Genet (2001) 1.10
The color of the human eye: a review of morphologic correlates and of some conditions that affect iridial pigmentation. Surv Ophthalmol (1997) 1.07
A golden age of human pigmentation genetics. Trends Genet (2006) 1.06
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Assignment of genes coding for brown eye colour (BEY2) and brown hair colour (HCL3) on chromosome 15q. Eur J Hum Genet (1996) 1.03
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. Hum Mutat (2000) 1.01
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P-locus is a target for the melanogenic effects of MC-1R signaling: a possible control point for facultative pigmentation. Ann N Y Acad Sci (2003) 0.85
High frequency of the Ala481Thr mutation of the P gene in the Japanese population. Am J Med Genet A (2003) 0.84
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Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia. Am J Med Genet A (2004) 0.82
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A draft sequence of the rice genome (Oryza sativa L. ssp. indica). Science (2002) 42.78
Common SNPs explain a large proportion of the heritability for human height. Nat Genet (2010) 35.02
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
A genome-wide association study of global gene expression. Nat Genet (2007) 22.98
Global quantification of mammalian gene expression control. Nature (2011) 22.36
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
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
Prevalence of chronic kidney disease in China: a cross-sectional survey. Lancet (2012) 10.53
Discovering microRNAs from deep sequencing data using miRDeep. Nat Biotechnol (2008) 10.17
High frequency of BRAF mutations in nevi. Nat Genet (2002) 9.95
A stem cell-like chromatin pattern may predispose tumor suppressor genes to DNA hypermethylation and heritable silencing. Nat Genet (2007) 9.47
A versatile gene-based test for genome-wide association studies. Am J Hum Genet (2010) 8.44
Escalation of drug use in early-onset cannabis users vs co-twin controls. JAMA (2003) 8.29
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
Novel genes identified in a high-density genome wide association study for nicotine dependence. Hum Mol Genet (2006) 7.90
Pooled analysis of fluorouracil-based adjuvant therapy for stage II and III colon cancer: who benefits and by how much? J Clin Oncol (2004) 7.36
Childhood adiposity, adult adiposity, and cardiovascular risk factors. N Engl J Med (2011) 7.16
Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings. PLoS Genet (2006) 7.13
Cubic AgPb(m)SbTe(2+m): bulk thermoelectric materials with high figure of merit. Science (2004) 7.07
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nat Genet (2012) 7.00
Pharmacologic disruption of Polycomb-repressive complex 2-mediated gene repression selectively induces apoptosis in cancer cells. Genes Dev (2007) 6.71
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
Altered histone acetylation is associated with age-dependent memory impairment in mice. Science (2010) 6.38
A mega-analysis of genome-wide association studies for major depressive disorder. Mol Psychiatry (2012) 6.34
Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus. Mol Cell (2004) 6.08
DNA methylation profiles in monozygotic and dizygotic twins. Nat Genet (2009) 5.99
A human snoRNA with microRNA-like functions. Mol Cell (2008) 5.84
miRDeep2 accurately identifies known and hundreds of novel microRNA genes in seven animal clades. Nucleic Acids Res (2011) 5.83
Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat Genet (2012) 5.55
A genomic screen for genes upregulated by demethylation and histone deacetylase inhibition in human colorectal cancer. Nat Genet (2002) 5.38
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet (2007) 5.28
Refining the complex rheumatoid arthritis phenotype based on specificity of the HLA-DRB1 shared epitope for antibodies to citrullinated proteins. Arthritis Rheum (2005) 5.18
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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Childhood cardiovascular risk factors and carotid vascular changes in adulthood: the Bogalusa Heart Study. JAMA (2003) 4.88
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
Formation of MacroH2A-containing senescence-associated heterochromatin foci and senescence driven by ASF1a and HIRA. Dev Cell (2005) 4.83
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet (2008) 4.57
Sequence and analysis of rice chromosome 4. Nature (2002) 4.39
Ligand configurational entropy and protein binding. Proc Natl Acad Sci U S A (2007) 4.33
Transmit and receive transmission line arrays for 7 Tesla parallel imaging. Magn Reson Med (2005) 4.25
Sirt5 is a NAD-dependent protein lysine demalonylase and desuccinylase. Science (2011) 4.16
Repeated polyploidization of Gossypium genomes and the evolution of spinnable cotton fibres. Nature (2012) 4.00
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
Genome-wide association study identifies three loci associated with melanoma risk. Nat Genet (2009) 3.89
Identification of seven loci affecting mean telomere length and their association with disease. Nat Genet (2013) 3.87
Estimating accuracy of RNA-Seq and microarrays with proteomics. BMC Genomics (2009) 3.87
Bias, precision and heritability of self-reported and clinically measured height in Australian twins. Hum Genet (2006) 3.84
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet (2013) 3.81
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Common sequence variants on 20q11.22 confer melanoma susceptibility. Nat Genet (2008) 3.79
Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73
A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. Nat Genet (2008) 3.71
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Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat (2007) 3.52
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
Combined genome scans for body stature in 6,602 European twins: evidence for common Caucasian loci. PLoS Genet (2007) 3.47
Comparing the DNA hypermethylome with gene mutations in human colorectal cancer. PLoS Genet (2007) 3.39
The long noncoding RNA SChLAP1 promotes aggressive prostate cancer and antagonizes the SWI/SNF complex. Nat Genet (2013) 3.39
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet (2010) 3.37