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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.
Lee YJ et al.
Stem Cell Reviews and Reports, 2025
Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.
Han J et al.
Korean Journal of Ophthalmology : Kjo, 2023
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
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.
Vázquez-Domínguez I et al.
Cells, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
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
RPE65 and retinal dystrophy: Report of new and recurrent mutations.
Safari S et al.
The Journal of Gene Medicine, 2020
The findings of optical coherence tomography of retinal degeneration in relation to the morphological and electroretinographic features in RPE65-/- mice.
Tanabu R et al.
Plos One, 2019
Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population.
Zhong Z et al.
Molecular Vision, 2019
Generation and Characterization of Induced Pluripotent Stem Cells and Retinal Organoids From a Leber's Congenital Amaurosis Patient With Novel RPE65 Mutations.
Li G et al.
Frontiers in Molecular Neuroscience, 2019
Enhancing Understanding of the Visual Cycle by Applying CRISPR/Cas9 Gene Editing in Zebrafish.
Ward R et al.
Frontiers in Cell and Developmental Biology, 2018
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
Soens ZT et al.
Human Mutation, 2017
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
Xu Y et al.
Experimental Eye Research, 2016
A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro.
Mo G et al.
Plos One, 2014
Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.
Chen Y et al.
Investigative Ophthalmology & Visual Science, 2013
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.
Fu Q et al.
Investigative Ophthalmology & Visual Science, 2013
Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.
Xu F et al.
Molecular Vision, 2012