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
First genetically confirmed case of CABP4-related cone-rod synaptic disorder from India.
Dhamankar TD et al.
Indian Journal of Ophthalmology, 2026
Novel splice variants implicated in inherited retinal dystrophies in two Moroccan families.
El Khair K et al.
Molecular Biology Reports, 2025
The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk Polymorphism.
Xu Z et al.
Investigative Ophthalmology & Visual Science, 2024
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder.
Tan JK et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Zobor D et al.
International Journal of Molecular Sciences, 2023
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C et al.
Human Mutation, 2019
Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing.
Deng J et al.
Frontiers in Genetics, 2019
Retinal findings in a patient of French ancestry with CABP4-related retinal disease.
Smirnov VM et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2018
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L et al.
European Journal of Human Genetics : Ejhg, 2017
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C et al.
Progress in Retinal and Eye Research, 2015
Voltage-Gated Cav1 Channels in Disorders of Vision and Hearing.
Joiner ML et al.
Current Molecular Pharmacology, 2015
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
Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4).
Shaltiel L et al.
The Journal of Biological Chemistry, 2012
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.
Schrauwen I et al.
American Journal of Human Genetics, 2012
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.
Littink KW et al.
Investigative Ophthalmology & Visual Science, 2010
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.
Aldahmesh MA et al.
Molecular Vision, 2010
Genotyping microarray for CSNB-associated genes.
Zeitz C et al.
Investigative Ophthalmology & Visual Science, 2009
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
Littink KW et al.
Investigative Ophthalmology & Visual Science, 2009