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
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.
Rajeh A et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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
In silico Mapping of Protein Unfolding Mutations for Inherited Disease.
McCafferty CL et al.
Scientific Reports, 2016
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
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
A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro.
Mo G et al.
Plos One, 2014
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Coppieters F et al.
Human Mutation, 2010
RPE65, visual cycle retinol isomerase, is not inherently 11-cis-specific: support for a carbocation mechanism of retinol isomerization.
Redmond TM et al.
The Journal of Biological Chemistry, 2010
Which Leber congenital amaurosis patients are eligible for gene therapy trials?
Drack AV et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2009
Predicting the pathogenicity of RPE65 mutations.
Philp AR et al.
Human Mutation, 2009
Impact of retinal disease-associated RPE65 mutations on retinoid isomerization.
Bereta G et al.
Biochemistry, 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
CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.
Yzer S et al.
Investigative Ophthalmology & Visual Science, 2006
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 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
[Molecular-genetic basis of tapetoretinal degeneration].
Dzhemileva LU et al.
Molekuliarnaia Biologiia, 0
Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.
Thuma TBT et al.
Survey of Ophthalmology, 0