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Journal Article
Scala, Marcello 
ORCID: 0000-0003-2194-7239, Drouot, Nathalie, MacLennan, Suzanna C., Wessels, Marja W., Krygier, Magdalena, Pavinato, Lisa ORCID: 0000-0002-7630-8365, Telegrafi, Aida, de Man, Stella A., van Slegtenhorst, Marjon, Iacomino, Michele ORCID: 0000-0003-4788-9719, Madia, Francesca, Scudieri, Paolo, Uva, Paolo ORCID: 0000-0002-9524-8492, Giacomini, Thea, Nobile, Giulia, Mancardi, Maria Margherita, Balagura, Ganna ORCID: 0000-0003-0212-8318, Galloni, Giovanni Battista, Verrotti, Alberto, Umair, Muhammad, Khan, Amjad, Liebelt, Jan, Schmidts, Miriam, Langer, Thorsten, Brusco, Alfredo ORCID: 0000-0002-8318-7231, Lipska-Zietkiewicz, Beata S., Saris, Jasper J., Charlet-Berguerand, Nicolas ORCID: 0000-0002-4423-4920, Zara, Federico, Striano, Pasquale and Piton, Amelie
(2022).
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Hum. Mutat., 43 (9).
S. 1299 - 1314.
HOBOKEN:
WILEY.
ISSN 1098-1004
Pavinato, Lisa ORCID: 0000-0002-7630-8365, Villamor-Paya, Marina ORCID: 0000-0002-7288-4197, Sanchiz-Calvo, Maria, Andreoli, Cristina ORCID: 0000-0003-3724-0668, Gay, Marina ORCID: 0000-0002-8827-7092, Vilaseca, Marta ORCID: 0000-0002-1666-1300, Arauz-Garofalo, Gianluca ORCID: 0000-0001-5166-6054, Ciolfi, Andrea ORCID: 0000-0002-6191-0978, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Pippucci, Tommaso, Prota, Valentina ORCID: 0000-0003-2336-9954, Carli, Diana ORCID: 0000-0001-5690-6504, Giorgio, Elisa ORCID: 0000-0003-4076-4649, Radio, Francesca Clementina, Antona, Vincenzo, Giuffre, Mario, Ranguin, Kara, Colson, Cindy, De Rubeis, Silvia, Dimartino, Paola ORCID: 0000-0002-6521-1082, Buxbaum, Joseph D., Ferrero, Giovanni Battista, Tartaglia, Marco ORCID: 0000-0001-7736-9672, Martinelli, Simone, Stracker, Travis H. and Brusco, Alfredo ORCID: 0000-0002-8318-7231
(2022).
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
J. Med. Genet., 59 (2).
S. 170 - 180.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244
Mancini, Cecilia ORCID: 0000-0003-1282-0404, Orsi, Laura, Guo, Yiran, Li, Jiankang, Chen, Yulan, Wang, Fengxiang, Tian, Lifeng, Liu, Xuanzhu, Zhang, Jianguo, Jiang, Hui, Nmezi, Bruce Shike, Tatsuta, Takashi, Giorgio, Elisa ORCID: 0000-0003-4076-4649, Di Gregorio, Eleonora, Cavalieri, Simona, Pozzi, Elisa, Mortara, Paolo, Caglio, Maria Marcella, Balducci, Alessandro, Pinessi, Lorenzo, Langer, Thomas ORCID: 0000-0003-1250-1462, Padiath, Quasar S., Hakonarson, Hakon, Zhang, Xiuqing and Brusco, Alfredo ORCID: 0000-0002-8318-7231
(2015).
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
BMC Med. Genet., 16.
LONDON:
BIOMED CENTRAL LTD.
ISSN 1471-2350
Mancini, Cecilia ORCID: 0000-0003-1282-0404, Orsi, Laura, Guo, Yiran, Li, Jiankang, Chen, Yulan, Wang, Fengxiang, Tian, Lifeng, Liu, Xuanzhu, Zhang, Jianguo, Jiang, Hui, Nmezi, Bruce Shike, Tatsuta, Takashi, Giorgio, Elisa ORCID: 0000-0003-4076-4649, Di Gregorio, Eleonora, Cavalieri, Simona, Pozzi, Elisa, Mortara, Paolo, Caglio, Maria Marcella, Balducci, Alessandro, Pinessi, Lorenzo, Langer, Thomas ORCID: 0000-0003-1250-1462, Padiath, Quasar S., Hakonarson, Hakon, Zhang, Xiuqing and Brusco, Alfredo ORCID: 0000-0002-8318-7231
(2015).
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
BMC Med. Genet., 16.
LONDON:
BIOMED CENTRAL LTD.
ISSN 1471-2350