Associated Papers
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
Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.
Liu Y et al.
International Journal of Molecular Sciences, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
35314707 (PubMed )
Supplement: 41525_2022_287_MOESM3_ESM.xlsx › SNV
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.
Beryozkin A et al.
Scientific Reports, 2020
32938956 (PubMed )
Supplement: 41598_2020_72028_MOESM1_ESM.pdf
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
27208204 (PubMed )
Supplement: jmedgenet-2016-103837supp_tables.pdf
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