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 › unsolved_patients
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › VUS
Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort.
Gao FJ et al.
Eye (london, England), 2022
34689181 (PubMed )
Supplement: 41433_2021_1794_MOESM5_ESM.pdf
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