Associated Papers
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
40926010 (PubMed )
Supplement: 41433_2025_3981_MOESM2_ESM.xlsx › Resolved_cohort
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
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
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
High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.
Bellingrath JS et al.
Investigative Ophthalmology & Visual Science, 2017
Select a paper to view details