Selected Publications
- DEAD/DEAH-box RNA helicases shape the risk of neurodevelopmental disorders. Chiara Fiorenzani, Adele Mossa, Silvia De Rubeis. Trends in Genetics
- Contribution of autosomal rare and de novo variants to sex differences in autism. Mahmoud Koko, F. Kyle Satterstrom, Branko Aleksic, Mykyta Artomov, Mafalda Barbosa, Elisa Benetti, Catalina Betancur, Monica Biscaldi-Schafer, Anders D. Børglum, Harrison Brand, Alfredo Brusco, Joseph D. Buxbaum, Gabriele Campos, Simona Cardaropoli, Diana Carli, Angel Carracedo, Marcus C.Y. Chan, Andreas G. Chiocchetti, Brian H.Y. Chung, Brett Collins, Ryan L. Collins, Edwin H. Cook, Hilary Coon, Claudia I.S. Costa, Michael L. Cuccaro, David J. Cutler, Mark J. Daly, Silvia De Rubeis, Bernie Devlin, Ryan N. Doan, Enrico Domenici, Shan Dong, Chiara Fallerini, Montserrat Fernández-Prieto, Giovanni Battista Ferrero, Christine M. Freitag, Jack M. Fu, J. Jay Gargus, Sherif Gerges, Elisa Giorgio, Ana Cristina Girardi, Stephen Guter, Emily Hansen-Kiss, Gail E. Herman, Irva Hertz-Picciotto, David M. Hougaard, Alexander Kolevzon, Behrang Mahjani, Abraham Reichenberg, Sven Sandin. American Journal of Human Genetics
- Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations. Lisa Pavinato, Silvia Carestiato, Slavica Trajkova, Lorena Sorasio, Giovanna Mantovani, Luisa De Sanctis, Jennifer Kerkhof, Haley McConkey, Jessica Rzasa, Emily Todd, Maria Balzo, Simona Cardaropoli, Alessandro Bruselles, Silvia De Rubeis, Joseph D. Buxbaum, Marco Tartaglia, Bekim Sadikovic, Giovanni Battista Ferrero, Alfredo Brusco. Clinical Genetics