Associated Papers
The potential use of anti-codon engineered tRNAs (ACE-tRNAs) to treat nonsense variants causing inherited retinal diseases.
Sarma AS et al.
Molecular Aspects of Medicine, 2026
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation.
Savastano MC et al.
Translational Vision Science & Technology, 2024
Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.
Lee BJH et al.
Ophthalmic Genetics, 2023
Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy.
Placidi G et al.
Diagnostics (basel, Switzerland), 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 epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
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
Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.
Koyanagi Y et al.
Investigative Ophthalmology & Visual Science, 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
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
Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy.
Wang Y et al.
Molecular Vision, 2019
EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.
McGuigan DB et al.
Genes, 2017
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L et al.
European Journal of Human Genetics : Ejhg, 2017
Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.
Di Y et al.
Scientific Reports, 2016
Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.
Gu S et al.
Molecular Vision, 2016
Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.
Chen X et al.
Scientific Reports, 2015
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.
van Huet RA et al.
Molecular Vision, 2015
[Using exon combined target region capture sequencing chip to detect the disease-causing genes of retinitis pigmentosa].
Rong W et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2014
[Targeted sequencing identifies a hotspot mutation SNRNP200 p.S1087L correlates with novel phenotypes in retinitis pigmentosa].
Chen X et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2013
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
Barragán I et al.
Human Mutation, 2010
Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.
Huang Y et al.
Bmc Medical Genetics, 2010
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.
Abd El-Aziz MM et al.
Investigative Ophthalmology & Visual Science, 2010
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
Abd El-Aziz MM et al.
Nature Genetics, 2008