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Stem Cell Research|October 3, 2020
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 geneEltahir Ali, Rosalba Monica Ferraro, Gaetana Lanzi, et al.
Nature Communications|April 5, 2025
A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specificationAntonia Wiegering, Isabelle Anselme, Ludovica Brunetti, et al.
Neurology|January 24, 2020
Age and sex prevalence estimate of Joubert syndrome in ItalySara Nuovo, Ilaria Bacigalupo, Monia Ginevrino, et al.
Orphanet Journal of Rare Diseases|May 2, 2023
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continuedSimone Schröder, Gökhan Yigit, Yun Li, et al.
International Journal of Molecular Sciences|June 24, 2022
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related DisordersRomina Romaniello, Ludovica Pasca, Elena Panzeri, et al.
Journal of Medical Genetics|September 11, 2025
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvementFulvio D'Abrusco, Simone Gana, Enrico Alfei, et al.
Cerebellum (London, England)|November 30, 2021
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome SequencingFulvio D'Abrusco, Filippo Arrigoni, Valentina Serpieri, et al.
Clinical Genetics|August 22, 2025
Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of CiliopathiesLucile Boutaud, Chunmei Li, Candice Moncler, et al.
Neurology. Genetics|October 27, 2021
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1Alison M R Castle, Smrithi Salian, Haim Bassan, et al.
Journal of Medical Genetics|February 14, 2023
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndromeValentina Serpieri, Giulia Mortarini, Hailey Loucks, et al.
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