Associated Papers
Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa: Molecular Genetics and Clinical Characteristics.
Hwang S et al.
American Journal of Ophthalmology, 2025
Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Rui X et al.
Scientific Reports, 2025
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
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Prime Editing for Human Gene Therapy: Where Are We Now?
Godbout K et al.
Cells, 2023
Identification of RPGR ORF15 mutation for X-linked retinitis pigmentosa in a large Chinese family and in vitro correction with prime editor.
Lv X et al.
Gene Therapy, 2023
Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing.
Kocaaga A et al.
Revista Da Associacao Medica Brasileira (1992), 2023
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
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
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
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
High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.
Bellingrath JS et al.
Investigative Ophthalmology & Visual Science, 2017
Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing.
Huang XF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Branham K et al.
Investigative Ophthalmology & Visual Science, 2012
Select a paper to view details