Associated Papers
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.
Vintschger E et al.
European Journal of Human Genetics : Ejhg, 2023
36550190 (PubMed )
Supplement: 41431_2022_1267_MOESM2_ESM.xlsx › all_variants_pooled
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C et al.
Archives of Gynecology and Obstetrics, 2022
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
Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
Thal DR et al.
International Journal of Molecular Sciences, 2015
26506339 (PubMed )
Supplement: ijms-16-25050-s001.zip › ijms-101073-Tables_S1_and_S2.xls › Table_S2
Mutations in human IFT140 cause non-syndromic retinal degeneration.
Xu M et al.
Human Genetics, 2015
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
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