Associated Papers
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
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_S10-Mono-allelic_variants_in_probands_considered_not_solved.xlsx › Sheet1
A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.
Sam J et al.
Human Genetics, 2022
Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients.
Beryozkin A et al.
Frontiers in Cell and Developmental Biology, 2021
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.
Jamshidi F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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