Associated Papers
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_MOESM3_ESM.xlsx › Non-coding_variants
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A et al.
International Journal of Molecular Sciences, 2023
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
35052368 (PubMed )
Supplement: genes-13-00027-s001.zip › genes-1495226-supplementary.pdf
Bardet-Biedl syndrome and related disorders in Japan.
Hirano M et al.
Journal of Human Genetics, 2020
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.
Hirano M et al.
Plos One, 2015
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