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Author/Creator Pavinato, Lisa

1. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes. Issue 9 (8th June 2022)

Authors:
Scala, Marcello; Drouot, Nathalie; MacLennan, Suzanna C.; Wessels, Marja W.; Krygier, Magdalena; Pavinato, Lisa; Telegrafi, Aida; de Man, Stella A.; van Slegtenhorst, Marjon; Iacomino, Michele; Madia, Francesca; Scudieri, Paolo; Uva, Paolo; Giacomini, Thea; Nobile, Giulia; Mancardi, Maria Margher...
Journal:
Human mutation
Issue:
Volume 43:Issue 9(2022)
Page Start:
1299
Record Type:
Journal Article
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2. Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review. Issue 6 (6th March 2021)

Authors:
Pavinato, Lisa; Trajkova, Slavica; Grosso, Enrico; Giorgio, Elisa; Bruselles, Alessandro; Radio, Francesca Clementina; Pippucci, Tommaso; Dimartino, Paola; Tartaglia, Marco; Petlichkovski, Aleksandar; De Rubeis, Silvia; Buxbaum, Joseph; Ferrero, Giovanni Battista; Keller, Roberto; Brusco, Alfredo
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 6(2021)
Page Start:
1712
Record Type:
Journal Article
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3. Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. Issue 2 (15th December 2020)

Authors:
Pavinato, Lisa; Villamor-Payà, Marina; Sanchiz-Calvo, Maria; Andreoli, Cristina; Gay, Marina; Vilaseca, Marta; Arauz-Garofalo, Gianluca; Ciolfi, Andrea; Bruselles, Alessandro; Pippucci, Tommaso; Prota, Valentina; Carli, Diana; Giorgio, Elisa; Radio, Francesca Clementina; Antona, Vincenzo; Giuffrè...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 2(2022)
Page Start:
170
Record Type:
Journal Article
View Content:
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