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Author/Creator De Rubeis, Silvia

1. A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. Issue 2 (1st December 2015)

Authors:
Biamino, Elisa; Di Gregorio, Eleonora; Belligni, Elga Fabia; Keller, Roberto; Riberi, Evelise; Gandione, Marina; Calcia, Alessandro; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Pappi, Patrizia; Talarico, Flavia; Fea, Antonio M.; De Rubeis, Silvia; Cirillo Silengo, Margherita; Ferrero, Gi...
Journal:
American journal of medical genetics
Issue:
Volume 171:Issue 2(2016)
Page Start:
290
Record Type:
Journal Article
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3. Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats. (16th March 2019)

Authors:
Golden, Carla E M; Breen, Michael S; Koro, Lacin; Sonar, Sankalp; Niblo, Kristi; Browne, Andrew; Burlant, Natalie; Di Marino, Daniele; De Rubeis, Silvia; Baxter, Mark G; Buxbaum, Joseph D; Harony-Nicolas, Hala
Journal:
Cerebral cortex
Issue:
Volume 29:Number 5(2019)
Page Start:
2228
Record Type:
Journal Article
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5. 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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6. 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
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Available online (eLD content is only available in our Reading Rooms) ↗