Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism

Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population

(2023) Kyle S. Chan et al.   Genes

Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families

(2022) Muhammad Shakil et al.   Genes

Molecular genetic characterization of Congolese patients with oculocutaneous albinism

(2022) Laetitia Mpola Mavinga et al.   European Journal of Medical Genetics

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism

(2021) Hwei Wuen Chan et al.   Genes

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

(2021) Stacie K. Loftus et al.   HUMAN MUTATION

Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism

(2021) Linya Ma et al.   Frontiers in Genetics

Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism

(2020) Zhang Chuan et al.   CURRENT EYE RESEARCH

Mutational analysis of a Chinese family with oculocutaneous albinism type 2

(2017) Xiong Wang et al.   Oncotarget

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

(2017) Mohsin Shahzad et al.   Scientific Reports

Association study confirms the role of twoOCA2polymorphisms in normal skin pigmentation variation in East Asian populations

(2015) Katherine Eaton et al.   AMERICAN JOURNAL OF HUMAN BIOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism

(2015) Yun Wang et al.   PLoS One

An intracellular anion channel critical for pigmentation

(2014) Nicholas W Bellono et al.   eLife

Increasing the complexity: new genes and new types of albinism

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

Distribution of OCA2∗481Thr and OCA2∗615Arg, associated with hypopigmentation, in several additional populations

(2011) Isao Yuasa et al.   Legal Medicine

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

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

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

Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type

(2008) Saunie M. Hutton et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY