Associated Papers
Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies.
Varughese S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2026
Monoallelic IFT140 Variants Causing Childhood-Onset Autosomal Dominant Polycystic Kidney Disease.
Griffiths JD et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2026
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
Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.
Watson D et al.
American Journal of Medical Genetics. Part A, 2025
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.
Cristalli CP et al.
Genes, 2025
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.
Zagorec N et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2025
Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease.
Clark D et al.
American Journal of Medical Genetics. Part A, 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
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease.
Dahl NK et al.
Journal of the American Society of Nephrology : Jasn, 2023
Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.
Strong A et al.
Scientific Reports, 2023
Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.
Gupta PR et al.
Molecular Vision, 2022
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Novel IFT140 variants cause spermatogenic dysfunction in humans.
Wang X et al.
Molecular Genetics & Genomic Medicine, 2019
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
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
Helm BM et al.
Human Genomics, 2017
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
Hull S et al.
Investigative Ophthalmology & Visual Science, 2016
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