Associated Papers
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
38927562 (PubMed )
Supplement: biomedicines-12-01355-s001.zip › Table_S2_Patients_and_variants.xlsx › merged_variants_and_patients_co
Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project.
Chen C et al.
Investigative Ophthalmology & Visual Science, 2024
Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
Kim DG et al.
Genes, 2023
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
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.
Fujinami-Yokokawa Y et al.
Scientific Reports, 2020
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Yi Z et al.
Experimental Eye Research, 2019
Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.
Joo K et al.
Molecular Vision, 2019
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