Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene

An eQTL analysis of the human glioblastoma multiforme genome

(2014) Max Shpak et al.   GENOMICS

The genomic landscape of Neanderthal ancestry in present-day humans

(2014) Sriram Sankararaman et al.   NATURE

Transcriptional enhancers: from properties to genome-wide predictions

(2014) Daria Shlyueva et al.   NATURE REVIEWS GENETICS

Sun-induced freckling: ephelides and solar lentigines

(2014) Christian Praetorius et al.   Pigment Cell & Melanoma Research

Genetic variation in regulatory DNA elements: the case ofOCA2transcriptional regulation

(2014) Mijke Visser et al.   Pigment Cell & Melanoma Research

Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y

(2014) Sandra Wilde et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Resurrecting Surviving Neandertal Lineages from Modern Human Genomes

(2014) B. Vernot et al.   SCIENCE

Laying a solid foundation for Manhattan – ‘setting the functional basis for the post-GWAS era’

(2014) Xiaoyang Zhang et al.   TRENDS IN GENETICS

Exploring signatures of positive selection in pigmentation candidate genes in populations of East Asian ancestry

(2013) Jessica L Hider et al.   BMC EVOLUTIONARY BIOLOGY

A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway

(2013) Christian Praetorius et al.   CELL

Impacts of Variation in the Human Genome on Gene Regulation

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The UCSC Genome Browser database: 2014 update

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Identification of Genetic Variants That Affect Histone Modifications in Human Cells

(2013) G. McVicker et al.   SCIENCE

From GWAS to function: Genetic variation in sodium channel gene enhancer influences electrical patterning

(2013) Malou van den Boogaard et al.   TRENDS IN CARDIOVASCULAR MEDICINE

Interactions with Iridophores and the Tissue Environment Required for Patterning Melanophores and Xanthophores during Zebrafish Adult Pigment Stripe Formation

(2013) Larissa B. Patterson et al.   PLoS Genetics

Long distance relationships: Enhancer–promoter communication and dynamic gene transcription

(2012) Judith Marsman et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

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The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA

(2012) Susan Walsh et al.   Forensic Science International-Genetics

Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes

(2012) D. U. Gorkin et al.   GENOME RESEARCH

HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter

(2012) M. Visser et al.   GENOME RESEARCH

Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans

(2012) Leonie C. Jacobs et al.   HUMAN GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

ENCODE Data in the UCSC Genome Browser: year 5 update

(2012) Kate R. Rosenbloom et al.   NUCLEIC ACIDS RESEARCH

YY1 Regulates Melanocyte Development and Function by Cooperating with MITF

(2012) Juying Li et al.   PLoS Genetics

Human pigmentation genes under environmental selection

(2012) Richard A Sturm et al.   GENOME BIOLOGY

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development

(2011) Elizabeth J Bhoj et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Essential role of microphthalmia transcription factor for DNA replication, mitosis and genomic stability in melanoma

(2011) T Strub et al.   ONCOGENE

Genetic Variation on 9p22 Is Associated with Abnormal Ovarian Ultrasound Results in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial

(2011) Nicolas Wentzensen et al.   PLoS One

The genome-wide dynamics of the binding of Ldb1 complexes during erythroid differentiation

(2010) E. Soler et al.   GENES & DEVELOPMENT

Evaluating self-declared ancestry of U.S. Americans with autosomal, Y-chromosomal and mitochondrial DNA

(2010) Oscar Lao et al.   HUMAN MUTATION

The NIH Roadmap Epigenomics Mapping Consortium

(2010) Bradley E Bernstein et al.   NATURE BIOTECHNOLOGY

Histone H3K27ac separates active from poised enhancers and predicts developmental state

(2010) M. P. Creyghton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits

(2010) Nicholas Eriksson et al.   PLoS Genetics

Molecular genetics of human pigmentation diversity

(2009) R. A. Sturm   HUMAN MOLECULAR GENETICS

Genome-Wide Association Study of Tanning Phenotype in a Population of European Ancestry

(2009) Hongmei Nan et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Genomic views of distant-acting enhancers

(2009) Axel Visel et al.   NATURE

A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2

(2009) Honglin Song et al.   NATURE GENETICS

Basonuclin 2 has a function in the multiplication of embryonic craniofacial mesenchymal cells and is orthologous to disco proteins

(2009) A. Vanhoutteghem et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Basonuclin-2 Requirements for Zebrafish Adult Pigment Pattern Development and Female Fertility

(2009) Michael R. Lang et al.   PLoS Genetics

SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

(2008) A. D. Johnson et al.   BIOINFORMATICS

Two newly identified genetic determinants of pigmentation in Europeans

(2008) Patrick Sulem et al.   NATURE GENETICS

A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation

(2008) Jiali Han et al.   PLoS Genetics