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
40448196 (PubMed )
Supplement: 13023_2025_3792_MOESM1_ESM.pdf
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.
Vincke L et al.
Npj Genomic Medicine, 2025
40055385 (PubMed )
Supplement: 41525_2025_473_MOESM2_ESM.xlsx › Sheet1
Mutations in retinal cyclic nucleotide-gated channels identified in familial cases of inherited retinal dystrophies from Pakistan.
Akhtar Z et al.
Molecular Vision, 2025
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 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
Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran.
Zamani M et al.
Molecular Genetics and Genomics : Mgg, 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
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.
Tanaka N et al.
Plos One, 2015
26407004 (PubMed )
Supplement: pone.0138943.s008.docx
Structure, dynamics and implied gating mechanism of a human cyclic nucleotide-gated channel.
Gofman Y et al.
Plos Computational Biology, 2014
25474149 (PubMed )
Supplement: pcbi.1003976.s013.pdf
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
Select a paper to view details