Associated Papers
Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.
Ionova S et al.
Pigment Cell & Melanoma Research, 2026
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
Okamura K et al.
The Journal of Dermatology, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.
Steiner CE et al.
Genes, 2025
Curation of OCA2 Variants of Uncertain Significance From Chinese Oculocutaneous Albinism Patients Based on Multiplex Assays.
Yang Q et al.
Pigment Cell & Melanoma Research, 2025
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
Mapping and annotating genomic loci to prioritize genes and implicate distinct polygenic adaptations for skin color.
Kim B et al.
Nature Communications, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Pagnamenta AT et al.
American Journal of Human Genetics, 2024
Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.
Wang Y et al.
Hereditas, 2024
Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.
Zaman Q et al.
Gene, 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
The qMini assay identifies an overlooked class of splice variants.
Guan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Forensic DNA Phenotyping: Genes and Genetic Variants for Eye Color Prediction.
Brancato D et al.
Genes, 2023
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
Somatic Mutational Landscape in Mexican Patients: CDH1 Mutations and chr20q13.33 Amplifications Are Associated with Diffuse-Type Gastric Adenocarcinoma.
Cerrato-Izaguirre D et al.
International Journal of Molecular Sciences, 2022
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M et al.
Bmc Medical Genomics, 2022
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
A Genome-Wide Scan on Individual Typology Angle Found Variants at SLC24A2 Associated with Skin Color Variation in Chinese Populations.
Wang F et al.
The Journal of Investigative Dermatology, 2022
Detection of De Novo PAX2 Variants and Phenotypes in Chinese Population: A Single-Center Study.
Xiong HY et al.
Frontiers in Genetics, 2022
Identification of 12 OCA Cases in Chinese Population and Two Novel Variants.
Zhong Z et al.
Frontiers in Genetics, 2022
Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.
Marek-Yagel D et al.
Frontiers in Genetics, 2022
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.
Nolan DK et al.
Clinical Genetics, 2021
Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement.
Jiang Y et al.
Investigative Ophthalmology & Visual Science, 2021
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
Kessel L et al.
Ophthalmic Genetics, 2021
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
Litts KM et al.
Translational Vision Science & Technology, 2021
A new type of oculocutaneous albinism with a novel OCA2 mutation.
Lee SY et al.
Yeungnam University Journal of Medicine, 2021
Current landscape of Oculocutaneous Albinism in Japan.
Okamura K et al.
Pigment Cell & Melanoma Research, 2021
Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.
Pandey K et al.
Genes, 2021
Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.
Ma L et al.
Frontiers in Genetics, 2021
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.
Kidd KK et al.
Scientific Reports, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Rayner JE et al.
Plos One, 2020
An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China.
Zhang K et al.
Frontiers in Genetics, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Clinical and genetic variability in children with partial albinism.
Campbell P et al.
Scientific Reports, 2019
NGS-based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism.
Okamura K et al.
Pigment Cell & Melanoma Research, 2019
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.
Zhong Z et al.
Pigment Cell & Melanoma Research, 2019
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
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Potjer TP et al.
International Journal of Cancer, 2019