Associated Papers
Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.
Matczyńska E et al.
Genes, 2024
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
Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families.
Cui H et al.
International Journal of Ophthalmology, 2022
Heterozygous CRX R90W mutation-associated adult-onset macular dystrophy with phenotype analogous to benign concentric annular macular dystrophy.
Ng CC et al.
Ophthalmic Genetics, 2020
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Yi Z et al.
Experimental Eye Research, 2019
Crx-L253X Mutation Produces Dominant Photoreceptor Defects in TVRM65 Mice.
Ruzycki PA et al.
Investigative Ophthalmology & Visual Science, 2017
A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.
Lu QK et al.
International Journal of Ophthalmology, 2015
A novel dominant CRX mutation causes adult-onset macular dystrophy.
Griffith JF et al.
Ophthalmic Genetics, 0
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