Associated Papers
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
Real-world outcomes of Voretigene Neparvovec: a single-centre consecutive case series.
Jalil A et al.
Eye (london, England), 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.
Vincke L et al.
Npj Genomic Medicine, 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
Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?
Hanna EM et al.
Plos One, 2025
Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.
Testa F et al.
Eye (london, England), 2024
A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan.
Higa N et al.
Frontiers in Medicine, 2024
A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.
Stepanova A et al.
Genes, 2023
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
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 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
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 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
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
In silico Mapping of Protein Unfolding Mutations for Inherited Disease.
McCafferty CL et al.
Scientific Reports, 2016
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
Long-term effect of gene therapy on Leber's congenital amaurosis.
Bainbridge JW et al.
The New England Journal of Medicine, 2015
Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy.
Ripamonti C et al.
Journal of Vision, 2015
Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65.
Ripamonti C et al.
Investigative Ophthalmology & Visual Science, 2014
Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites.
Li S et al.
The Journal of Biological Chemistry, 2014
A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro.
Mo G et al.
Plos One, 2014
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.
Jacobson SG et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2012
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
Pasadhika S et al.
Investigative Ophthalmology & Visual Science, 2010
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Sundaresan P et al.
Molecular Vision, 2009
Predicting the pathogenicity of RPE65 mutations.
Philp AR et al.
Human Mutation, 2009
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2008
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.
Hauswirth WW et al.
Human Gene Therapy, 2008
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
Galvin JA et al.
Ophthalmology, 2005
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.
Simovich MJ et al.
Human Mutation, 2001
Genetic analysis of RPE65: from human disease to mouse model.
Redmond TM et al.
Methods in Enzymology, 2000
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
Morimura H et al.
Proceedings of the National Academy of Sciences of the United States of America, 1998
Evaluation of genotype-phenotype associations in leber congenital amaurosis.
Galvin JA et al.
Retina (philadelphia, Pa.), 0
[Molecular-genetic basis of tapetoretinal degeneration].
Dzhemileva LU et al.
Molekuliarnaia Biologiia, 0