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
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Longitudinal Imaging of the Foveal Cone Mosaic in CNGA3-Associated Achromatopsia.
Katta M et al.
Investigative Ophthalmology & Visual Science, 2024
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
Mihalich A et al.
Genes, 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 Characterization of Danish Achromatopsia Patients.
Andersen MKG et al.
Genes, 2023
Frequency-dependent retinal responsiveness to sinusoidal electrical stimulation in achromatopsia.
Jung R et al.
Experimental Eye Research, 2023
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M et al.
Human Mutation, 2022
Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.
Whelan L et al.
Genes, 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
Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.
Kuniyoshi K et al.
Japanese Journal of Ophthalmology, 2016
Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.
Yang P et al.
Jama Ophthalmology, 2014
Retinal structure and function in achromatopsia: implications for gene therapy.
Sundaram V et al.
Ophthalmology, 2014
Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders.
Vincent A et al.
Ophthalmic Genetics, 2011
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
Thiadens AA et al.
Ophthalmology, 2010
Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel.
Muraki-Oda S et al.
Biochemical and Biophysical Research Communications, 2007
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
Nishiguchi KM et al.
Human Mutation, 2005
The cone dysfunction syndromes.
Michaelides M et al.
The British Journal of Ophthalmology, 2004
CNGA3 mutations in hereditary cone photoreceptor disorders.
Wissinger B et al.
American Journal of Human Genetics, 2001