Associated Papers
Ocular manifestations of syndromic and ocular-only phenotypes of IFT140-related recessive ciliopathies.
Kaler A et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2025
Ciliopathy-Associated Missense Mutations in IFT140 are Tolerated by the Inherent Resilience of the IFT Machinery.
Beyer T et al.
Molecular & Cellular Proteomics : Mcp, 2025
Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes.
Akhtar Z et al.
Genes, 2024
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman OA et al.
European Journal of Human Genetics : Ejhg, 2020
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
Hull S et al.
Investigative Ophthalmology & Visual Science, 2016
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