Associated Papers
Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.
Hong YJ et al.
Annals of Laboratory Medicine, 2025
41457516 (PubMed )
Supplement: alm-46-2-200-supple.pdf
Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report.
Song C et al.
Ophthalmic Genetics, 2025
39544142 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Liang Y et al.
Stem Cell Research & Therapy, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.
Sun Y et al.
Molecular Genetics & Genomic Medicine, 2020
MERTK mutation update in inherited retinal diseases.
Audo I et al.
Human Mutation, 2018
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