Associated Papers
Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination.
Rasmussen DK et al.
Orphanet Journal of Rare Diseases, 2025
GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.
Inooka T et al.
Retina (philadelphia, Pa.), 2024
Longitudinal Imaging of the Foveal Cone Mosaic in CNGA3-Associated Achromatopsia.
Katta M et al.
Investigative Ophthalmology & Visual Science, 2024
Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia.
Solaki M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Clinical and Genetic Features of Korean Patients with Achromatopsia.
Choi YJ et al.
Genes, 2023
Frequency-dependent retinal responsiveness to sinusoidal electrical stimulation in achromatopsia.
Jung R et al.
Experimental Eye Research, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M et al.
Human Mutation, 2022
Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome.
Choi JH et al.
Ophthalmic Genetics, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability.
Georgiou M et al.
Investigative Ophthalmology & Visual Science, 2019
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
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
Zelinger L et al.
Ophthalmology, 2015
Novel CNGA3 mutations in Chinese patients with achromatopsia.
Liang X et al.
The British Journal of Ophthalmology, 2015
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.
Tanaka N et al.
Plos One, 2015
Retinal structure and function in achromatopsia: implications for gene therapy.
Sundaram V et al.
Ophthalmology, 2014
An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews.
Zelinger L et al.
Human Genetics, 2010
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
Johnson S et al.
Journal of Medical Genetics, 2004