Associated Papers
Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.
Ionova S et al.
Pigment Cell & Melanoma Research, 2026
Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants.
Okamura K et al.
Pigment Cell & Melanoma Research, 2025
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2025
Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant.
Shihab RN et al.
Clinical Case Reports, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 2025
Molecular Characterization of Oculocutaneous Albinism in Consanguineous Pakistani Families: Unraveling Disease-Causing Pathogenic Variants in OCA2 and TYR Genes for Precision Diagnosis.
Kaul H et al.
Biochemical Genetics, 2025
Genotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature.
Ma Q et al.
Journal of Medical Case Reports, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
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 molecular landscape of oculocutaneous albinism in India and its therapeutic implications.
Kohli S et al.
European Journal of Human Genetics : Ejhg, 2024
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families.
Khan J et al.
Bmc Ophthalmology, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India.
Dutta T et al.
Molecular Biology Reports, 2024
Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism.
Woertz EN et al.
Investigative Ophthalmology & Visual Science, 2024
TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.
Chen C et al.
Experimental Eye Research, 2024
Generation and characterization of retinal pigment epithelium from patient iPSC line to model oculocutaneous albinism (OCA)1A disease.
Subramani J et al.
Journal of Biosciences, 2024
Application of whole exome sequencing in carrier screening for high-risk families without probands.
Huang Q et al.
Frontiers in Genetics, 2024
Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders.
Xintong Z et al.
Bmc Medical Genomics, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.
Xing D et al.
Bmc Ophthalmology, 2022
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.
Ullah MI
Genes, 2022
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.
Xiao Y et al.
Bmc Genomics, 2022
Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.
Shakil M et al.
Genes, 2022
Identification of 12 OCA Cases in Chinese Population and Two Novel Variants.
Zhong Z et al.
Frontiers in Genetics, 2022
Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism.
Dumitrescu AV et al.
Ophthalmic Genetics, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
Chan HW et al.
Genes, 2021
Genetic Causes of Oculocutaneous Albinism in Pakistani Population.
Sajid Z et al.
Genes, 2021
Current landscape of Oculocutaneous Albinism in Japan.
Okamura K et al.
Pigment Cell & Melanoma Research, 2021
Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.
Xu C et al.
Journal of Clinical Laboratory Analysis, 2021
Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism.
Chuan Z et al.
Current Eye Research, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Prevalence and causes of infantile nystagmus in a large population-based Danish cohort.
Hvid K et al.
Acta Ophthalmologica, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Mapping the TYR gene reveals novel and previously reported variants in Eastern Indian patients highlighting preponderance of the same changes in multiple unrelated ethnicities.
Ganguly K et al.
Annals of Human Genetics, 2020
Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.
Angural A et al.
Frontiers in Genetics, 2020
Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.
Bibi N et al.
Frontiers in Genetics, 2020
Molecular genetic study of 59 Chinese Oculocutaneous albinism families.
Luo D et al.
European Journal of Medical Genetics, 2019
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene.
Monfermé S et al.
The British Journal of Ophthalmology, 2019