Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Measuring Rod- and Cone-Photoreceptor-Specific Vision in Inherited Retinal Diseases Using a Commercial Perimeter.
Wu V et al.
Investigative Ophthalmology & Visual Science, 2025
Novel compound heterozygous CNGA3 mutation associated with retinal cone dystrophy.
Sun R et al.
Experimental and Therapeutic Medicine, 2025
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 testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 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 Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Abu Elasal M et al.
Genes, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
Longitudinal Assessment of OCT-Based Measures of Foveal Cone Structure in Achromatopsia.
Grissim G 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
Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.
Amaral RAS et al.
Genes, 2023
Genetic and Clinical Characterization of Danish Achromatopsia Patients.
Andersen MKG et al.
Genes, 2023
Clinical and Genetic Features of Korean Patients with Achromatopsia.
Choi YJ et al.
Genes, 2023
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M et al.
Human Mutation, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies.
Tekavčič Pompe M et al.
Current Issues in Molecular Biology, 2021
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
Litts KM et al.
Translational Vision Science & Technology, 2021
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.
Oh JK et al.
American Journal of Ophthalmology, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.
Sun W et al.
Molecular Vision, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 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
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
Burkard M et al.
The Journal of Clinical Investigation, 2018
Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.
Rim JH et al.
Jama Ophthalmology, 2017
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
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
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
Zelinger L et al.
Ophthalmology, 2015
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.
Tanaka N et al.
Plos One, 2015
Structure, dynamics and implied gating mechanism of a human cyclic nucleotide-gated channel.
Gofman Y et al.
Plos Computational Biology, 2014
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
Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.
Greenberg JP et al.
Jama Ophthalmology, 2014
Five novel CNGB3 gene mutations in Polish patients with achromatopsia.
Wawrocka A et al.
Molecular Vision, 2014
Rhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family.
Vincent AL et al.
Translational Vision Science & Technology, 2013
Restoration of proper trafficking to the cell surface for membrane proteins harboring cysteine mutations.
Lopez-Rodriguez A et al.
Plos One, 2012
Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3.
Saqib MA et al.
Japanese Journal of Ophthalmology, 2011
Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient.
Lam K et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2011
Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunit.
Ding XQ et al.
Advances in Experimental Medicine and Biology, 2010
Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
Thiadens AA et al.
Ophthalmology, 2009
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.
Reuter P et al.
Human Mutation, 2008
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).
Koeppen K et al.
The European Journal of Neuroscience, 2008