Associated Papers
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
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
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
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
Linking Protein Stability to Pathogenicity: Predicting Clinical Significance of Single-Missense Mutations in Ocular Proteins Using Machine Learning.
Majid I et al.
International Journal of Molecular Sciences, 2024
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Partial rescue of the full-field electroretinogram in patients with RPE65-related retinal dystrophy following gene augmentation therapy with voretigene neparvovec-rzyl.
Amato A et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2024
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
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.
Stepanova A et al.
Genes, 2023
Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center.
Kiraly P et al.
Biomolecules, 2023
Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa.
Kelbsch C et al.
Investigative Ophthalmology & Visual Science, 2023
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Zobor D et al.
International Journal of Molecular 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
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 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 epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis.
Cho EH et al.
Orphanet Journal of Rare Diseases, 2022
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy.
Testa F et al.
Scientific Reports, 2022
Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec.
Stingl K et al.
The British Journal of Ophthalmology, 2022
Short term morphological rescue of the fovea after gene therapy with voretigene neparvovec.
Kortüm FC et al.
Acta Ophthalmologica, 2022
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
Genetics of Inherited Retinal Diseases in Understudied Populations.
Kannabiran C et al.
Frontiers in Genetics, 2022
Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric Patients.
Testa F et al.
Translational Vision Science & Technology, 2021
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N et al.
Investigative Ophthalmology & Visual Science, 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
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.
Tayebi N et al.
Molecular Vision, 2019
Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population.
Zhong Z et al.
Molecular Vision, 2019
A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis.
Kumaran N et al.
Investigative Ophthalmology & Visual Science, 2018
Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.
Choi EH et al.
Human Molecular Genetics, 2018
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.
Ellingford JM et al.
Journal of Medical Genetics, 2018
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
With expanded carrier screening, founder populations run the risk of being overlooked.
Mathijssen IB et al.
Journal of Community Genetics, 2017
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L et al.
European Journal of Human Genetics : Ejhg, 2017
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
Mouse model of human RPE65 P25L hypomorph resembles wild type under normal light rearing but is fully resistant to acute light damage.
Li Y et al.
Human Molecular Genetics, 2015
Promising and delivering gene therapies for vision loss.
Carvalho LS et al.
Vision Research, 2015
Improvement and decline in vision with gene therapy in childhood blindness.
Jacobson SG et al.
The New England Journal of Medicine, 2015
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