Associated Papers
Tapetal-like reflex in X-linked RPGR-associated retinopathy.
Padhy SK et al.
Ophthalmic Genetics, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 2025
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis.
Huang L et al.
Retina (philadelphia, Pa.), 2024
Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes.
Marques JP et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 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
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
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
Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.
Tuupanen S et al.
Translational Vision Science & Technology, 2022
Mutation Analysis of the RPGR Gene in a Chinese Cohort.
Liu HL et al.
Frontiers in Genetics, 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
De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline.
Maggi J et al.
Genes, 2020
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
Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing their Potential for Retinal Gene Therapy.
Nanda A et al.
Genes, 2018
Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing.
Li J et al.
The Journal of Molecular Diagnostics : Jmd, 2016
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