Associated Papers
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.
Vaché C et al.
European Journal of Human Genetics : Ejhg, 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
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
Ocular findings and genomics of X-linked recessive disorders: A review.
Hassan A et al.
Indian Journal of Ophthalmology, 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
34985506 (PubMed )
Supplement: tvst-11-1-6_s001.pdf
Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family.
Wang Y et al.
Bmc 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
34745198 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.
Mawatari G et al.
Human Genome Variation, 2019
High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.
Bellingrath JS et al.
Investigative Ophthalmology & Visual Science, 2017
Correction to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.
Mawatari G et al.
Human Genome Variation, 0
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