Associated Papers
Oculocutaneous albinism in a patient with an OCA2 variant: molecular and clinical insights.
Neissi M et al.
Asian Biomedicine : Research, Reviews and News, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
Advanced Chronic Kidney Disease (CKD) in a Patient With Alstrom Syndrome.
Ahmed M et al.
Cureus, 2024
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B et al.
Molecular Genetics & Genomic Medicine, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.
Arcot Sadagopan K et al.
Ophthalmic Genetics, 2023
A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.
Coovadia A et al.
Plos One, 2023
Foveal hypoplasia in parents of patients with albinism.
Lejoyeux R et al.
Ophthalmic Genetics, 2022
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism.
Chuan Z et al.
Current Eye Research, 2021
Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.
Ma L et al.
Frontiers in Genetics, 2021
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.
Yang Q et al.
Bmc Medical Genetics, 2019
Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing.
Qiu B et al.
Genetic Testing and Molecular Biomarkers, 2018
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
Wang Y et al.
Plos One, 2015
Computational screening of disease-associated mutations in OCA2 gene.
Kamaraj B et al.
Cell Biochemistry and Biophysics, 2014
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
Wei A et al.
The Journal of Investigative Dermatology, 2010
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.
Rooryck C et al.
Pigment Cell & Melanoma Research, 2008
Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.
Suzuki T et al.
The Journal of Investigative Dermatology, 2003