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
Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients.
Koyanagi Y et al.
Npj Genomic 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
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.
Park HS et al.
Journal of Korean Medical Science, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population.
Yeo EYH et al.
Translational Vision Science & Technology, 2025
Deep phenotyping of eyes shut homolog-associated retinopathy based on visual impairment patterns.
Sakai D et al.
Frontiers in Ophthalmology, 2025
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
Ocular genetics in the Japanese population.
Hotta Y et al.
Japanese Journal of Ophthalmology, 2024
Specification of variant interpretation guidelines for inherited retinal dystrophy in Japan.
Fujinami K et al.
Japanese Journal of Ophthalmology, 2024
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases.
Goto K et al.
Journal of Medical Genetics, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa.
Hiraoka M et al.
Plos One, 2024
Multimodal imaging in retinitis pigmentosa related to the EYS gene.
Martins EADS et al.
Arquivos Brasileiros De Oftalmologia, 2024
A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD.
Suga A et al.
Genetics in Medicine Open, 2024
Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.
Lee BJH et al.
Ophthalmic Genetics, 2023
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
Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort.
Gao FJ et al.
Eye (london, England), 2022
EYS-Associated Sector Retinitis Pigmentosa.
Marques JP et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2022
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ et al.
Genes, 2021
Clinical Characteristics, Differential Diagnosis and Genetic Analysis of Concentric Retinitis Pigmentosa.
Nakahara M et al.
Life (basel, Switzerland), 2021
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ et al.
Bmc Medical Genomics, 2021
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.
Nishiguchi KM et al.
Communications Biology, 2021
Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa.
Kim YN et al.
Journal of Ophthalmology, 2021
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening.
Numa S et al.
Scientific Reports, 2020
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.
Yang L et al.
Scientific Reports, 2020
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
Nikopoulos K et al.
Nature Communications, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa.
Iwanami M et al.
Molecular Vision, 2019
EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.
Messchaert M et al.
Human Mutation, 2018
High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa.
Iwanami M et al.
Investigative Ophthalmology & Visual Science, 2012
Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.
Hosono K et al.
Plos One, 2012
Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.
Thuma TBT et al.
Survey of Ophthalmology, 0
Development of Macular Atrophy after Macular Hole Surgery in an Eye with Retinitis Pigmentosa.
Goto Y et al.
Case Reports in Ophthalmology, 0