Associated Papers
Gene therapy outcomes in young patients with RPE65-retinal degeneration.
Stephenson KAJ et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2026
Higher Throughput Assays for Understanding the Pathogenicity of Variants of Unknown Significance in the RPE65 Gene.
Azizzadeh Pormehr L et al.
Investigative Ophthalmology & Visual Science, 2025
Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.
Abdul R et al.
Investigative Ophthalmology & Visual Science, 2025
Higher throughput assays for understanding the pathogenicity of variants of unknown significance (VUS) in the RPE65 gene.
Pormehr LA et al.
Biorxiv : the Preprint Server for Biology, 2025
Linking Protein Stability to Pathogenicity: Predicting Clinical Significance of Single-Missense Mutations in Ocular Proteins Using Machine Learning.
Majid I et al.
International Journal of Molecular Sciences, 2024
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
Wu J et al.
Peerj, 2023
Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.
Zhou H et al.
Nature Communications, 2021
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
Aoun M et al.
International Journal of Molecular Sciences, 2021
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N et al.
Investigative Ophthalmology & Visual Science, 2020
A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis.
Kumaran N et al.
Investigative Ophthalmology & Visual Science, 2018
Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis.
Kumaran N et al.
Investigative Ophthalmology & Visual Science, 2018
SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes.
Hariprakash JM et al.
Database : the Journal of Biological Databases and Curation, 2018
Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.
Maranhao B et al.
Plos One, 2015
RPE65: role in the visual cycle, human retinal disease, and gene therapy.
Cai X et al.
Ophthalmic Genetics, 2009
Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65.
Chen Y et al.
Febs Letters, 2006
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
Kondo H et al.
Investigative Ophthalmology & Visual Science, 2004
Genetic analysis of RPE65: from human disease to mouse model.
Redmond TM et al.
Methods in Enzymology, 2000
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation.
Liu XZ et al.
American Journal of Human Genetics, 1999
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
Perrault I et al.
American Journal of Human Genetics, 1999
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
Gu SM et al.
Nature Genetics, 1997
[Molecular-genetic basis of tapetoretinal degeneration].
Dzhemileva LU et al.
Molekuliarnaia Biologiia, 0
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.
Marlhens F et al.
European Journal of Human Genetics : Ejhg, 0