Associated Papers
From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration.
Huang YS et al.
Human Genomics, 2026
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
40114034 (PubMed )
Supplement: 41431_2025_1833_MOESM3_ESM.xlsx › Supplementary_Table_1
Variants in CFAP410 cause a range of retinal and skeletal phenotypes.
Schmidt RE et al.
Npj Genomic Medicine, 2025
40246852 (PubMed )
Supplement: 41525_2025_489_MOESM1_ESM.pdf
Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410, associated with selective cone degeneration.
Borchert GA et al.
Ophthalmic Genetics, 2024
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Sangermano R et al.
Npj Genomic Medicine, 2024
39516462 (PubMed )
Supplement: 41525_2024_439_MOESM1_ESM.pdf
Double Hyperautofluorescence Rings as a Sign of CFAP410-related Retinopathy.
Li X et al.
Investigative Ophthalmology & Visual Science, 2023
C21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases.
Shinbashi M et al.
Clinical Case Reports, 2023
A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature.
Chiu N et al.
Ophthalmic Genetics, 2022
Select a paper to view details