
Silvia De Rubeis, PhD
About Me
Dr. De Rubeis is an Associate Professor at the Seaver Autism Center for Research and Treatment, Department of Psychiatry, Mindich Child Health and Development Institute, and Friedman Brain Institute at the Icahn School of Medicine at Mount Sinai.
Dr. De Rubeis completed her bachelor, master, and PhD degrees in Cellular and Molecular Biology at the University of Rome Tor Vergata, Italy. During her PhD and first postdoctoral training in Dr. Claudia Bagni’s lab at the Katholieke Universiteit Leuven and Vlaams Instituut voor Biotechnologie (Belgium), she studied how the regulation of mRNA translation shapes the synaptic development in the context of Fragile X syndrome. During this training, she visited Dr. Eric Klann’s lab at the New York University as an EMBO short-term fellow. She then joined Mount Sinai for a second postdoctoral training in Dr. Joseph Buxbaum’s lab. She studied the role of rare genetic variation in autism through large-scale exome sequencing.
Dr. De Rubeis' research aims at understanding the developmental defects resulting from disruptive mutations in novel high-risk genes identified from large-scale genomic studies in autism and intellectual disability. The lab takes a genetics-first approach for functional analyses in cellular and mouse models and strives to take into account clinically relevant aspects that emerge from patient-based research.
Dr. De Rubeis is a 2020 Friedman Brain Institute Scholar Award and a 2021 Distinguished Scholar Award from the Icahn School of Medicine at Mount Sinai. She is also the recipient of a Wilhelm Bessel Research Award from the Alexander von Humboldt Foundation in 2021.
Language
English
Position
ASSOCIATE PROFESSOR | Pharmacological Sciences, ASSOCIATE PROFESSOR | Psychiatry
Multi-Disciplinary Training Areas
Development Regeneration and Stem Cells [DRS], Neuroscience [NEU]
Publications
Selected Publications
- Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3X. Adele Mossa, Lauren Dierdorff, Jeronimo Lukin, Marta Garcia-Forn, Wei Wang, Fatemeh Mamashli, Yeaji Park, Chiara Fiorenzani, Zeynep Akpinar, Janine Kamps, Jörg Tatzelt, Zhuhao Wu, Silvia De Rubeis. Nature Communications
- Correction to: The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder (The American Journal of Human Genetics, (2023), 110, 6, (963-978), (S0002929723001325), 10.1016/j.ajhg.2023.04.008). Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B.A. de Vries, Richard H. van Jaarsveld, Saskia M.J. Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortüm, Francois Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibæk, Eloise J. Prijoles, Roger E. Stevenson, David B. Everman, Wesley G. Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J. Benke, María Soledad Lopez Garcia, Renee Perrier, Sergio B. Sousa, Pedro M. Almeida, Maria José Simões, Bertrand Isidor, Wallid Deb, Andrew A. Schmanski, Omar Abdul-Rahman, Christophe Philippe, Ange Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J. Smits, Livia Garavelli, Stefano G. Caraffi, Francesca Peluso, Laura Davis-Keppen, Dylan Platt, Erin Royer, Lisette Leeuwen, Margje Sinnema, Alexander P.A. Stegmann, Constance T.R.M. Stumpel, George E. Tiller, Daniëlle G.M. Bosch, Stephanus T. Potgieter, Shelagh Joss, Miranda Splitt, Simon Holden, Matina Prapa, Nicola Foulds, Sofia Douzgou, Kaija Puura, Regina Waltes, Andreas G. Chiocchetti, Christine M. Freitag, F. Kyle Satterstrom, Silvia De Rubeis, Joseph Buxbaum, Bruce D. Gelb, Aleksic Branko, Itaru Kushima, Jennifer Howe, Stephen W. Scherer, Alessia Arado, Chiara Baldo, Olivier Patat, Demeer Bénédicte, Diego Lopergolo, Filippo M. Santorelli, Tobias B. Haack, Andreas Dufke, Miriam Bertrand, Ruth J. Falb, Angelika Rieß, Peter Krieg, Stephanie Spranger, Maria Francesca Bedeschi, Maria Iascone, Sarah Josephi-Taylor, Tony Roscioli, Michael F. Buckley, Jan Liebelt, Aditi I. Dagli, Emmelien Aten, Anna C.E. Hurst, Alesha Hicks, Mohnish Suri, Ermal Aliu, Sunil Naik, Richard Sidlow, Juliette Coursimault, Gaël Nicolas, Hanna Küpper, Florence Petit, Veyan Ibrahim, Deniz Top, Francesca Di Cara, Raymond J. Louie, Elliot Stolerman, Han G. Brunner, Lisenka E.L.M. Vissers, Jamie M. Kramer, Tjitske Kleefstra. American Journal of Human Genetics
- Expanding the understanding of DDX3X-related neurodevelopmental disorder in males. Silvia De Rubeis. European Journal of Human Genetics