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_S9-Mono-allelic_variants_in_probands_considered_solved.xlsx › Sheet1
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M et al.
Human Mutation, 2022
Novel CNGA3 mutations in Chinese patients with achromatopsia.
Liang X et al.
The British Journal of Ophthalmology, 2015
Diagnostic fundus autofluorescence patterns in achromatopsia.
Fahim AT et al.
American Journal of Ophthalmology, 2013
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