Associated Papers
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
40879297 (PubMed )
Supplement: iovs-66-11-73_s001.xlsx › Assessment
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.
Zeuli R et al.
Hgg Advances, 2024
38816995 (PubMed )
Supplement: mmc1.pdf
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
37547722 (PubMed )
Supplement: peerj-11-15702-s004.xlsx › Table_S2
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy.
Shi J et al.
Journal of Clinical Medicine, 2021
Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population.
Gao FJ et al.
Orphanet Journal of Rare Diseases, 2021
Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells.
Nash BM et al.
Stem Cells International, 2021
RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.
Li S et al.
Acta Ophthalmologica, 2020
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
Chung DC et al.
American Journal of Ophthalmology, 2019
Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population.
Zhong Z et al.
Molecular Vision, 2019
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
Astuti GD et al.
European Journal of Human Genetics : Ejhg, 2016
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