Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
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
Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy.
Danish E et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy.
Yeh TC et al.
Molecular Genetics and Metabolism Reports, 2022
Integrative modeling reveals the molecular architecture of the intraflagellar transport A (IFT-A) complex.
McCafferty CL et al.
Elife, 2022
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 2021
Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.
Cui Y et al.
Plos One, 2021
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.
Patel N et al.
Clinical Genetics, 2018
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Geoffroy V et al.
Human Mutation, 2018
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis.
Oud MM et al.
Cilia, 2018
The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.
Bifari IN et al.
The British Journal of Ophthalmology, 2016
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
Hull S et al.
Investigative Ophthalmology & Visual Science, 2016
Mutations in human IFT140 cause non-syndromic retinal degeneration.
Xu M et al.
Human Genetics, 2015
Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.
Khan AO et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2014
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.
Miller KA et al.
Plos Genetics, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Schmidts M et al.
Human Mutation, 2013
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Perrault I et al.
American Journal of Human Genetics, 2012