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
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project.
Ying D et al.
Human Genetics, 2025
Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.
Park HS et al.
Journal of Korean Medical Science, 2025
Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.
Fan X et al.
Scientific Reports, 2025
Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.
Jang MA et al.
Scientific Reports, 2024
Detecting Alu Element Insertion Variant in RP1 Gene Using Whole Genome Sequencing in Patients with Retinitis Pigmentosa.
Kwon HJ et al.
Genes, 2024
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
[Developmental of a Support System for the Genetic Diagnosis and Counseling of Rare Disease].
Kim GH et al.
Jugan Geon-gang Gwa Jilbyeong, 2024
Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy.
Kim DJ et al.
Ophthalmic Research, 2024
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.
Shen C et al.
Molecular Vision, 2022
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ et al.
Genes, 2021
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ et al.
Bmc Medical Genomics, 2021
Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions.
Wang J et al.
Frontiers in Cell and Developmental Biology, 2021
Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa.
Kim YN et al.
Journal of Ophthalmology, 2021
A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa.
Nishiguchi KM et al.
Japanese Journal of Ophthalmology, 2020
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
Dan H et al.
Molecular Genetics & Genomic Medicine, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.
Kurata K et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2018
Genomic analysis identifies masqueraders of full-term cerebral palsy.
Takezawa Y et al.
Annals of Clinical and Translational Neurology, 2018
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.
Li S et al.
Genetic Testing and Molecular Biomarkers, 2018