D'ABRUSCO, FULVIO
D'ABRUSCO, FULVIO
DIPARTIMENTO DI MEDICINA MOLECOLARE
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature
2024-01-01 Politano, D.; D'Abrusco, F.; Pasca, L.; Ferraro, F.; Gana, S.; Garau, J.; Zanaboni, M. P.; Rognone, E.; Pichiecchio, A.; Borgatti, R.; Valente, E. M.; De Giorgis, V.; Romaniello, R.
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity
2021-01-01 De Paoli, F.; Limongelli, I.; Zucca, S.; Baccalini, F.; Serpieri, V.; D'Abrusco, F.; Valente, E. M.; Magni, P.
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations
2021-01-01 De Paoli, F.; Limongelli, I.; Zucca, S.; Baccalini, F.; Serpieri, V.; D'Abrusco, F.; Zarantonello, M.; Antonaci, Fabio; Carrabba, M.; Valente, E. M.; Magni, P.
Expanding the natural history of CASK-related disorders to the prenatal period
2023-01-01 Gafner, Michal; Boltshauser, Eugen; D'Abrusco, Fulvio; Battini, Roberta; Romaniello, Romina; D'Arrigo, Stefano; Zanni, Ginevra; Leibovitz, Zvi; Yosovich, Keren; Lerman-Sagie, Tally
Exploring the non-coding regions of the genome: the contribution of cryptic splicing variants to the onset of Joubert syndrome
2023-06-21 D'Abrusco, Fulvio
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing
2021-01-01 D'Abrusco, F.; Arrigoni, F.; Serpieri, V.; Romaniello, R.; Caputi, C.; Manti, F.; Jocic-Jakubi, B.; Lucarelli, E.; Panzeri, E.; Bonaglia, M. C.; Chiapparini, L.; Pichiecchio, A.; Pinelli, L.; Righini, A.; Leuzzi, V.; Borgatti, R.; Valente, E. M.
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia
2021-01-01 Zanni, G.; D'Abrusco, F.; Nicita, F.; Cascioli, S.; Tosi, M.; Corrente, F.; Serpieri, V.; Ciccone, R.; Motta, M.; Vasco, G.; Carsetti, R.; Valente, E. M.; Bertini, E.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
2023-01-01 Serpieri, V.; Mortarini, G.; Loucks, H.; Biagini, T.; Micalizzi, A.; Palmieri, I.; Dempsey, J. C.; D'Abrusco, F.; Mazzotta, C.; Battini, R.; Bertini, E. S.; Boltshauser, E.; Borgatti, R.; Brockmann, K.; D'Arrigo, S.; Nardocci, N.; Fischetto, R.; Agolini, E.; Novelli, A.; Romano, A.; Romaniello, R.; Stanzial, F.; Signorini, S.; Strisciuglio, P.; Gana, S.; Mazza, T.; Doherty, D.; Valente, E. M.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
2022-01-01 Serpieri, Valentina; D'Abrusco, Fulvio; Dempsey, Jennifer C; Cheng, Yong-Han Hank; Arrigoni, Filippo; Baker, Janice; Battini, Roberta; Bertini, Enrico Silvio; Borgatti, Renato; Christman, Angela K; Curry, Cynthia; D'Arrigo, Stefano; Fluss, Joel; Freilinger, Michael; Gana, Simone; Ishak, Gisele E; Leuzzi, Vincenzo; Loucks, Hailey; Manti, Filippo; Mendelsohn, Nancy; Merlini, Laura; Miller, Caitlin V; Muhammad, Ansar; Nuovo, Sara; Romaniello, Romina; Schmidt, Wolfgang; Signorini, Sabrina; Siliquini, Sabrina; Szczałuba, Krzysztof; Vasco, Gessica; Wilson, Meredith; Zanni, Ginevra; Boltshauser, Eugen; Doherty, Dan; Valente, Enza Maria
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders
2022-01-01 Romaniello, R.; Pasca, L.; Panzeri, E.; D'Abrusco, F.; Travaglini, L.; Serpieri, V.; Signorini, S.; Aiello, C.; Bertini, E.; Bassi, M. T.; Valente, E. M.; Zanni, G.; Borgatti, R.; Arrigoni, F.
Visual function in children with Joubert syndrome
2024-01-01 Morelli, F.; Toni, F.; Saligari, E.; D'Abrusco, F.; Serpieri, V.; Ballante, E.; Ruberto, G.; Borgatti, R.; Valente, E. M.; Signorini, S.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature | 1-gen-2024 | Politano, D.; D'Abrusco, F.; Pasca, L.; Ferraro, F.; Gana, S.; Garau, J.; Zanaboni, M. P.; Rognone, E.; Pichiecchio, A.; Borgatti, R.; Valente, E. M.; De Giorgis, V.; Romaniello, R. | |
| DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity | 1-gen-2021 | De Paoli, F.; Limongelli, I.; Zucca, S.; Baccalini, F.; Serpieri, V.; D'Abrusco, F.; Valente, E. M.; Magni, P. | |
| DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations | 1-gen-2021 | De Paoli, F.; Limongelli, I.; Zucca, S.; Baccalini, F.; Serpieri, V.; D'Abrusco, F.; Zarantonello, M.; Antonaci, Fabio; Carrabba, M.; Valente, E. M.; Magni, P. | |
| Expanding the natural history of CASK-related disorders to the prenatal period | 1-gen-2023 | Gafner, Michal; Boltshauser, Eugen; D'Abrusco, Fulvio; Battini, Roberta; Romaniello, Romina; D'Arrigo, Stefano; Zanni, Ginevra; Leibovitz, Zvi; Yosovich, Keren; Lerman-Sagie, Tally | |
| Exploring the non-coding regions of the genome: the contribution of cryptic splicing variants to the onset of Joubert syndrome | 21-giu-2023 | D'Abrusco, Fulvio | |
| Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing | 1-gen-2021 | D'Abrusco, F.; Arrigoni, F.; Serpieri, V.; Romaniello, R.; Caputi, C.; Manti, F.; Jocic-Jakubi, B.; Lucarelli, E.; Panzeri, E.; Bonaglia, M. C.; Chiapparini, L.; Pichiecchio, A.; Pinelli, L.; Righini, A.; Leuzzi, V.; Borgatti, R.; Valente, E. M. | |
| PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia | 1-gen-2021 | Zanni, G.; D'Abrusco, F.; Nicita, F.; Cascioli, S.; Tosi, M.; Corrente, F.; Serpieri, V.; Ciccone, R.; Motta, M.; Vasco, G.; Carsetti, R.; Valente, E. M.; Bertini, E. | |
| Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome | 1-gen-2023 | Serpieri, V.; Mortarini, G.; Loucks, H.; Biagini, T.; Micalizzi, A.; Palmieri, I.; Dempsey, J. C.; D'Abrusco, F.; Mazzotta, C.; Battini, R.; Bertini, E. S.; Boltshauser, E.; Borgatti, R.; Brockmann, K.; D'Arrigo, S.; Nardocci, N.; Fischetto, R.; Agolini, E.; Novelli, A.; Romano, A.; Romaniello, R.; Stanzial, F.; Signorini, S.; Strisciuglio, P.; Gana, S.; Mazza, T.; Doherty, D.; Valente, E. M. | |
| SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum | 1-gen-2022 | Serpieri, Valentina; D'Abrusco, Fulvio; Dempsey, Jennifer C; Cheng, Yong-Han Hank; Arrigoni, Filippo; Baker, Janice; Battini, Roberta; Bertini, Enrico Silvio; Borgatti, Renato; Christman, Angela K; Curry, Cynthia; D'Arrigo, Stefano; Fluss, Joel; Freilinger, Michael; Gana, Simone; Ishak, Gisele E; Leuzzi, Vincenzo; Loucks, Hailey; Manti, Filippo; Mendelsohn, Nancy; Merlini, Laura; Miller, Caitlin V; Muhammad, Ansar; Nuovo, Sara; Romaniello, Romina; Schmidt, Wolfgang; Signorini, Sabrina; Siliquini, Sabrina; Szczałuba, Krzysztof; Vasco, Gessica; Wilson, Meredith; Zanni, Ginevra; Boltshauser, Eugen; Doherty, Dan; Valente, Enza Maria | |
| Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders | 1-gen-2022 | Romaniello, R.; Pasca, L.; Panzeri, E.; D'Abrusco, F.; Travaglini, L.; Serpieri, V.; Signorini, S.; Aiello, C.; Bertini, E.; Bassi, M. T.; Valente, E. M.; Zanni, G.; Borgatti, R.; Arrigoni, F. | |
| Visual function in children with Joubert syndrome | 1-gen-2024 | Morelli, F.; Toni, F.; Saligari, E.; D'Abrusco, F.; Serpieri, V.; Ballante, E.; Ruberto, G.; Borgatti, R.; Valente, E. M.; Signorini, S. |