Associated Papers
Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients.
Koyanagi Y et al.
Npj Genomic Medicine, 2025
Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.
Park HS et al.
Journal of Korean Medical Science, 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
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
Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.
Lee BJH et al.
Ophthalmic Genetics, 2023
Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing.
Sano Y et al.
Journal of Medical Genetics, 2022
Regional differences in genes and variants causing retinitis pigmentosa in Japan.
Koyanagi Y et al.
Japanese Journal of Ophthalmology, 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
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
Serum anti-recoverin antibodies is found in elderly patients with retinitis pigmentosa and cancer.
Sato T et al.
Acta Ophthalmologica, 2020
Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.
Koyanagi Y et al.
Investigative Ophthalmology & Visual Science, 2020
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
Koyanagi Y et al.
Journal of Medical Genetics, 2019
Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.
Pierrache LHM et al.
Investigative Ophthalmology & Visual Science, 2019
The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.
Yoon CK et al.
Bmc Genomics, 2015