Associated Papers
Identification of a novel CABP4 frameshift variant and a secondary USH2A missense variant in congenital cone-rod synaptic disorder.
Mousawi Z et al.
Ophthalmic Genetics, 2026
Exploring the Genetic Causes of Nonsyndromic Retinal Dystrophies in Qatar.
Abiib S et al.
Genes, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Novel splice variants implicated in inherited retinal dystrophies in two Moroccan families.
El Khair K et al.
Molecular Biology Reports, 2025
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.
Del Pozo-Valero M et al.
Clinical Genetics, 2024
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Almutairi F et al.
Acta Ophthalmologica, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
CABP4 mutations do not cause congenital stationary night blindness.
Khan AO
Ophthalmology, 2014
Clinical characterisation of the CABP4-related retinal phenotype.
Khan AO et al.
The British Journal of Ophthalmology, 2013
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.
Aldahmesh MA et al.
Molecular Vision, 2010
Multimodal imaging in CABP4-related retinopathy.
Schatz P et al.
Ophthalmic Genetics, 0
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