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The Lancet. Neurology|July 24, 2025
The relevance of primary cilia in neurological disordersValentina Serpieri, Fulvio D'Abrusco, Enza Maria ValenteJournal of Medical Genetics|December 3, 2024
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlatesSimone Gana, Fulvio D'Abrusco, Roberta Nicotra, et al.Developmental Medicine and Child Neurology|September 29, 2022
Expanding the natural history of CASK-related disorders to the prenatal periodMichal Gafner, Eugen Boltshauser, Fulvio D'Abrusco, et al.Developmental Medicine and Child Neurology|August 18, 2023
Visual function in children with Joubert syndromeFederica Morelli, Federico Toni, Elena Saligari, et al.American Journal of Medical Genetics. Part A|February 7, 2024
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literatureDavide Politano, Fulvio D'Abrusco, Ludovica Pasca, et al.American Journal of Medical Genetics. Part A|January 17, 2025
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic CardiomyopathySilvia Kalantari, Daniele Veraldi, Davide Politano, 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.Genes|July 29, 2025
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide DeficiencyDavide Politano, Cecilia Mancini, Massimiliano Celario, et al.Pageof 2