| Genotype–phenotype correlates in Joubert syndrome: A review S Gana, V Serpieri, EM Valente American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2022 | 55 | 2022 |
| Age and sex prevalence estimate of Joubert syndrome in Italy S Nuovo, I Bacigalupo, M Ginevrino, R Battini, E Bertini, R Borgatti, ... Neurology 94 (8), e797-e801, 2020 | 37 | 2020 |
| SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum V Serpieri, F D’Abrusco, JC Dempsey, YHH Cheng, F Arrigoni, J Baker, ... Journal of medical genetics 59 (9), 888-894, 2022 | 30 | 2022 |
| A novel IRF2BPL truncating variant is associated with endolysosomal storage M Ginevrino, R Battini, S Nuovo, A Simonati, A Micalizzi, I Contaldo, ... Molecular Biology Reports 47, 711-714, 2020 | 21 | 2020 |
| Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study S Nuovo, A Micalizzi, R Romaniello, F Arrigoni, M Ginevrino, A Casella, ... Journal of medical genetics 59 (4), 399-409, 2022 | 17 | 2022 |
| Human trisomy 21 fibroblasts rescue methotrexate toxic effect after treatment with 5‐methyl‐tetrahydrofolate and 5‐formyl‐tetrahydrofolate L Vitale, V Serpieri, M Lauriola, A Piovesan, F Antonaros, E Cicchini, ... Journal of Cellular Physiology 234 (9), 15010-15024, 2019 | 12 | 2019 |
| Get your molar tooth right: Joubert syndrome misdiagnosis unmasked by whole-exome sequencing F D’Abrusco, F Arrigoni, V Serpieri, R Romaniello, C Caputi, F Manti, ... The Cerebellum, 1-7, 2022 | 10 | 2022 |
| Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders R Romaniello, L Pasca, E Panzeri, F D’Abrusco, L Travaglini, V Serpieri, ... International Journal of Molecular Sciences 23 (12), 6723, 2022 | 8 | 2022 |
| Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1 AMR Castle, S Salian, H Bassan, E Sofrin-Drucker, R Cusmai, ... Neurology: Genetics 7 (6), e631, 2021 | 8 | 2021 |
| Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene E Ali, RM Ferraro, G Lanzi, S Masneri, G Piovani, EL Mazzoldi, V Serpieri, ... Stem Cell Research 49, 102007, 2020 | 6 | 2020 |
| Electroretinographic assessment in Joubert Syndrome: a suggested objective method to evaluate the effectiveness of future targeted treatment G Ruberto, V Parisi, C Bertone, S Signorini, M Antonini, EM Valente, ... Advances in therapy 37, 3827-3838, 2020 | 6 | 2020 |
| PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia G Zanni, F D’Abrusco, F Nicita, S Cascioli, M Tosi, F Corrente, V Serpieri, ... The Cerebellum 21 (4), 525-530, 2022 | 5 | 2022 |
| Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome V Serpieri, G Mortarini, H Loucks, T Biagini, A Micalizzi, I Palmieri, ... Journal of Medical Genetics 60 (9), 885-893, 2023 | 4 | 2023 |
| Phenotypic definition and genotype-phenotype correlates in PMPCA-related disease V Serpieri, T Biagini, C Mazzotta, R Pasquariello, A Rubegni, F Santorelli, ... Applied Sciences 11 (2), 748, 2021 | 3 | 2021 |
| The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued S Schröder, G Yigit, Y Li, J Altmüller, HM Büttel, B Fiedler, C Kretzschmar, ... Orphanet Journal of Rare Diseases 18 (1), 101, 2023 | 2 | 2023 |
| Visual function in children with Joubert syndrome F Morelli, F Toni, E Saligari, F D'Abrusco, V Serpieri, E Ballante, ... Developmental Medicine & Child Neurology 66 (3), 379-388, 2024 | 1 | 2024 |
| Dystonia as presenting feature of compound heterozygous PMPCA gene variants T De Santis, V Serpieri, T Biagini, M Lanotte, C Criffò, T Mazza, ... Movement Disorders Clinical Practice 10 (6), 1020, 2023 | 1 | 2023 |
| Generation of an iPSC line from skin fibroblasts of a patient with Joubert syndrome carrying the homozygous loss of function variant c. 787dupC in the AHI1 gene V Serpieri, A Orsi, C Mazzotta, S Cavan, E Rossi, B Scelsa, EM Valente Stem Cell Research 66, 103002, 2023 | 1 | 2023 |
| DIVAs: A phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations F De Paoli, I Limongelli, S Zucca, F Baccalini, V Serpieri, F d'Abrusco, ... Proceedings of ESHG21, 2021 | 1 | 2021 |
| A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification A Wiegering, I Anselme, L Brunetti, L Metayer-Derout, D Calderon, ... | | 2024 |
