Associated Papers
CRISPR as a therapeutic tool for inherited retinal degenerations: Advances, challenges, and future directions.
Galdikaite-Braziene E et al.
Molecular Aspects of Medicine, 2026
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
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
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
36445968 (PubMed )
Supplement: pnas.2208707119.sapp.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
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.
Cho A et al.
Orphanet Journal of Rare Diseases, 2020
Optical Coherence Tomography Angiography of RPGR-Associated Retinitis Pigmentosa Suggests Foveal Avascular Zone is a Biomarker for Vision Loss.
Tang PH et al.
Ophthalmic Surgery, Lasers & Imaging Retina, 2019
Precision Medicine: Genetic Repair of Retinitis Pigmentosa in Patient-Derived Stem Cells.
Bassuk AG et al.
Scientific Reports, 2016
A novel RPGR mutation masquerading as Stargardt disease.
Bassuk AG et al.
The British Journal of Ophthalmology, 2014
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