Associated Papers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S3-Disease-causing_variants_identified_in_the_solved_probands.xlsx › Variants
Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss.
Pantrangi M et al.
Molecular Vision, 2024
RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15.
Benson MD et al.
Investigative Ophthalmology & Visual Science, 2023
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
Genotype-Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.
Yang J et al.
Frontiers in Genetics, 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
32037395 (PubMed )
Supplement: NIHMS1572593-supplement-Supplementary_Tables.xlsx › Table_S2-solutions
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
Yahalom C et al.
Ophthalmic Genetics, 2018
Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.
Zahid S et al.
Jama Ophthalmology, 2013
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