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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
Phan, Thao P., Maryniak, Aubrey L., Boatwright, Christina A., Lee, Junsu, Atkins, Alisa, Tijhuis, Andrea, Spierings, Diana C. J., Bazzi, Hisham ORCID: 0000-0001-8388-4005, Foijer, Floris ORCID: 0000-0003-0989-3127, Jordan, Philip W., Stracker, Travis H. and Holland, Andrew J.
.
Centrosome defects cause microcephaly by activating the 53BP1-USP28-TP53 mitotic surveillance pathway.
Embo J..
HOBOKEN:
WILEY.
ISSN 1460-2075