A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

(2021) Peter Ebert et al.   SCIENCE

Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma

(2020) Kavita Y. Sarin et al.   Nature Communications

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

(2020) Maria Teresa Landi et al.   NATURE GENETICS

Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism

(2020) Zhang Chuan et al.   CURRENT EYE RESEARCH

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

(2020) Perrine Pennamen et al.   GENETICS IN MEDICINE

SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation

(2020) Linh Le et al.   MOLECULAR BIOLOGY OF THE CELL

Current landscape of Oculocutaneous Albinism in Japan

(2020) Ken Okamura et al.   Pigment Cell & Melanoma Research

Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants

(2020) Jenna E. Rayner et al.   PLoS One

Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts

(2020) Sara R. Rashkin et al.   Nature Communications

A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

(2019) Kaustubh Adhikari et al.   Nature Communications

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

(2019) Karen Grønskov et al.   Scientific Reports

Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations

(2019) Hadia Gul et al.   ANNALS OF HUMAN GENETICS

Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non‐syndromic oculocutaneous albinism facilitates genetic diagnosis

(2019) Zilin Zhong et al.   Pigment Cell & Melanoma Research

Combined analysis of keratinocyte cancers identifies novel genome-wide loci

(2019) Upekha E Liyanage et al.   HUMAN MOLECULAR GENETICS

Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

(2019) Vaishnavi Nathan et al.   Pigment Cell & Melanoma Research

Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors

(2019) Carolina Reato Marçon et al.   ANAIS BRASILEIROS DE DERMATOLOGIA

Evolutionary and functional impact of common polymorphic inversions in the human genome

(2019) Carla Giner-Delgado et al.   Nature Communications

Clinical and genetic variability in children with partial albinism

(2019) Patrick Campbell et al.   Scientific Reports

A Review of Copy Number Variants in Inherited Neuropathies

(2018) Vincenzo Salpietro et al.   CURRENT GENOMICS

Molecular characterization of a series of 990 index patients with albinism

(2018) Eulalie Lasseaux et al.   Pigment Cell & Melanoma Research

Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure

(2018) Alessia Visconti et al.   Nature Communications

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort

(2018) Iván Galván-Femenía et al.   JOURNAL OF MEDICAL GENETICS

The Phenotypic Spectrum of Albinism

(2018) Charlotte C. Kruijt et al.   OPHTHALMOLOGY

Cell-type–specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes

(2018) Tongwu Zhang et al.   GENOME RESEARCH

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families

(2018) Thomas P. Potjer et al.   INTERNATIONAL JOURNAL OF CANCER

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability

(2018) Michael D. Morgan et al.   Nature Communications

Loci associated with skin pigmentation identified in African populations

(2017) Nicholas G. Crawford et al.   SCIENCE

Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma

(2017) Katherine J. Ransohoff et al.   Oncotarget

Molecular outcomes, clinical consequences and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

(2017) Mohsin Shahzad et al.   Scientific Reports

Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma

(2016) Maryam M. Asgari et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

deepTools2: a next generation web server for deep-sequencing data analysis

(2016) Fidel Ramírez et al.   NUCLEIC ACIDS RESEARCH

Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma

(2016) Harvind S. Chahal et al.   Nature Communications

Importance of nonsynonymousOCA2variants in human eye color prediction

(2016) Jeppe D. Andersen et al.   Molecular Genetics & Genomic Medicine

LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants: Fig. 1.

(2015) Mitchell J. Machiela et al.   BIOINFORMATICS

Human inversions and their functional consequences

(2015) Marta Puig et al.   Briefings in Functional Genomics

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up

(2015) Fan Liu et al.   HUMAN GENETICS

Unrevealing the role of P-protein on melanosome biology and structure, using siRNA-mediated down regulation of OCA2

(2015) Sangjoo Park et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

(2015) Matthew H Law et al.   NATURE GENETICS

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular analysis of common polymorphisms within the humanTyrosinaselocus and genetic association with pigmentation traits

(2014) Kasturee Jagirdar et al.   Pigment Cell & Melanoma Research

An intracellular anion channel critical for pigmentation

(2014) Nicholas W Bellono et al.   eLife

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

(2013) Christian Praetorius et al.   CELL

Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans

(2013) Mingfeng Zhang et al.   HUMAN MOLECULAR GENETICS

DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

(2013) Dimitre R. Simeonov et al.   HUMAN MUTATION

Phenotypic impact of genomic structural variation: insights from and for human disease

(2013) Joachim Weischenfeldt et al.   NATURE REVIEWS GENETICS

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of theTYR, OCA2, andSLC45A2genes and a complex rearrangement of theOCA2gene

(2013) Fanny Morice-Picard et al.   Pigment Cell & Melanoma Research

Increasing the complexity: new genes and new types of albinism

(2013) Lluís Montoliu et al.   Pigment Cell & Melanoma Research

OCA5,a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24

(2012) T Kausar et al.   CLINICAL GENETICS

Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree

(2012) Jason E. Hawkes et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

A global view of the OCA2-HERC2 region and pigmentation

(2011) Michael P. Donnelly et al.   HUMAN GENETICS

Albinism and skin cancer in Southern Africa

(2010) Jennifer G. R. Kromberg et al.   CLINICAL GENETICS

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

(2010) Caroline Rooryck et al.   HUMAN GENETICS

Limitations of next-generation genome sequence assembly

(2010) Can Alkan et al.   NATURE METHODS

A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Oculocutaneous Albinism

(2009) Aihua Wei et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color

(2008) Richard A. Sturm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2008) Hans Eiberg et al.   HUMAN GENETICS

Localization to Mature Melanosomes by Virtue of Cytoplasmic Dileucine Motifs Is Required for Human OCA2 Function

(2008) Anand Sitaram et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2008) Jiali Han et al.   PLoS Genetics