Associated Papers
Exploring the Genetic Causes of Nonsyndromic Retinal Dystrophies in Qatar.
Abiib S et al.
Genes, 2025
Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa: Molecular Genetics and Clinical Characteristics.
Hwang S et al.
American Journal of Ophthalmology, 2025
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
Association of Circulating Antiretinal Antibodies With Clinical Outcomes in Retinitis Pigmentosa.
Bianco L et al.
Investigative Ophthalmology & Visual Science, 2023
RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15.
Benson MD et al.
Investigative Ophthalmology & Visual Science, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.
Cehajic-Kapetanovic J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.
Nassisi M et al.
International Journal of Molecular Sciences, 2022
Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.
Tuupanen S et al.
Translational Vision Science & Technology, 2022
Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family.
Wang Y et al.
Bmc Ophthalmology, 2021
Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
Georgiou M et al.
American Journal of Ophthalmology, 2021
Genotype-Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.
Yang J et al.
Frontiers in Genetics, 2021
Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy.
Mahroo OA et al.
Jama Ophthalmology, 2020
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features.
Nguyen XT et al.
International Journal of Molecular Sciences, 2020
Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.
Xiao T et al.
Frontiers in Cell and Developmental Biology, 2020
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Sector retinitis pigmentosa: Report of ten cases and a review of the literature.
Coussa RG et al.
Molecular Vision, 2019