Associated Papers
Exploring the Genetic Causes of Nonsyndromic Retinal Dystrophies in Qatar.
Abiib S et al.
Genes, 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
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.
Ullah M et al.
Npj Genomic Medicine, 2025
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Mutations in retinal cyclic nucleotide-gated channels identified in familial cases of inherited retinal dystrophies from Pakistan.
Akhtar Z et al.
Molecular Vision, 2025
THE GENETIC BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES.
Khan AO
Retina (philadelphia, Pa.), 2024
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
GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.
Inooka T et al.
Retina (philadelphia, Pa.), 2024
Phenotypic characteristics of Danish patients with achromatopsia.
Andersen MKG et al.
Acta Ophthalmologica, 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
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
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 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
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
Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families.
Yousaf S et al.
Genes, 2022
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
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.
Brunetti-Pierri R et al.
International Journal of Molecular Sciences, 2021
Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes.
Jinda W et al.
International Ophthalmology, 2021
Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.
Tracewska AM et al.
Molecular Vision, 2021
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.
Oh JK et al.
American Journal of Ophthalmology, 2020
PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.
Khan AO
Retina (philadelphia, Pa.), 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.
Fischer MD et al.
Jama Ophthalmology, 2020
Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.
Sun W et al.
Molecular Vision, 2020
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.
Rehman AU et al.
Genes, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Characterization of Retinal Structure in ATF6-Associated Achromatopsia.
Mastey RR et al.
Investigative Ophthalmology & Visual Science, 2019
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
Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.
Matet A et al.
Scientific Reports, 2018
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
Riera M et al.
Scientific Reports, 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
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Tiwari A et al.
Scientific Reports, 2016
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
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
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