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
Structure-based analysis of missense mutations impacting the catalytic and substrate binding sites of hRPE65.
Poli G et al.
Journal of Molecular Graphics & Modelling, 2025
Leber Congenital Amaurosis.
Tsang SH et al.
Advances in Experimental Medicine and Biology, 2025
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B et al.
Science Translational Medicine, 2024
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.
Gnanasekaran H et al.
Clinical Genetics, 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
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
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.
Verma A et al.
Plos One, 2013
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2009
A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
Tsang SH et al.
American Journal of Ophthalmology, 2008
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
Zernant J et al.
Investigative Ophthalmology & Visual Science, 2005
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
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