Associated Papers
Nasal Retinal Degeneration Is a Feature of a Subset of CRX-Associated Retinopathies.
Massengill MT et al.
Genes, 2026
Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.
Cain B et al.
Biorxiv : the Preprint Server for Biology, 2025
41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2
Clinical Characteristics and Visual Prognostic Biomarkers in Pericentral Retinitis Pigmentosa: A Study in a South Korean Cohort.
Bae SH et al.
Korean Journal of Ophthalmology : Kjo, 2025
Systematic review of genotype-phenotype associations in CRX-associated retinal dystrophies.
Banjak M et al.
Bmj Open Ophthalmology, 2025
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S3-Disease-causing_variants_identified_in_the_solved_probands.xlsx › Variants
Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
Kim DG et al.
Genes, 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
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
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
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Maltese PE et al.
Frontiers in Genetics, 2022
35836572 (PubMed )
Supplement: Table1.xlsx › Table_S5_All_variants
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
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
Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.
Behjati S et al.
Nature Communications, 2017
28643781 (PubMed )
Supplement: ncomms15936-s3.xlsx › Table_S2
Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.
Arai Y et al.
Journal of Ophthalmology, 2015
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