Universität zu Köln

Journal Article

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

Pavinato, Lisa ORCID: 0000-0002-7630-8365, Trajkova, Slavica ORCID: 0000-0002-0178-5327, Grosso, Enrico, Giorgio, Elisa ORCID: 0000-0003-4076-4649, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Radio, Francesca Clementina ORCID: 0000-0003-1993-8018, Pippucci, Tommaso ORCID: 0000-0001-7737-7963, Dimartino, Paola, Tartaglia, Marco ORCID: 0000-0001-7736-9672, Petlichkovski, Aleksandar ORCID: 0000-0002-1956-4063, De Rubeis, Silvia, Buxbaum, Joseph, Ferrero, Giovanni Battista, Keller, Roberto ORCID: 0000-0002-6873-9827 and Brusco, Alfredo (2021). Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. Am. J. Med. Genet. A, 185 (6). S. 1712 - 1721. HOBOKEN: WILEY. ISSN 1552-4833

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