Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Novel compound heterozygous CNGA3 mutation associated with retinal cone dystrophy.
Sun R et al.
Experimental and Therapeutic Medicine, 2025
Longitudinal Imaging of the Foveal Cone Mosaic in CNGA3-Associated Achromatopsia.
Katta M et al.
Investigative Ophthalmology & Visual Science, 2024
Case Report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family.
Zhou X et al.
Frontiers in Genetics, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M et al.
Human Mutation, 2022
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.
Sun W et al.
Molecular Vision, 2020
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability.
Georgiou M et al.
Investigative Ophthalmology & Visual Science, 2019
Novel causative variants in patients with achromatopsia.
Abdelkader E et al.
Ophthalmic Genetics, 2018
Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.
Matet A et al.
Scientific Reports, 2018
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.
Zobor D et al.
Investigative Ophthalmology & Visual Science, 2017
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.
Tanaka N et al.
Plos One, 2015
Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.
Li S et al.
Jama Ophthalmology, 2014
Retinal structure and function in achromatopsia: implications for gene therapy.
Sundaram V et al.
Ophthalmology, 2014
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
Abu-Safieh L et al.
Genome Research, 2013
Photoreceptor structure and function in patients with congenital achromatopsia.
Genead MA et al.
Investigative Ophthalmology & Visual Science, 2011
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
Johnson S et al.
Journal of Medical Genetics, 2004
Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series.
Danish E et al.
Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society, 0