Associated Papers
Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain.
Shepherdson JL et al.
Genome Research, 2024
Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain.
Shepherdson JL et al.
Biorxiv : the Preprint Server for Biology, 2024
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Yi Z et al.
Experimental Eye Research, 2019
Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathies.
Tran NM et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2014
The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.
Hull S et al.
Investigative Ophthalmology & Visual Science, 2014
Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.
Rivolta C et al.
Human Mutation, 2001
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