Research output per year
Research output per year
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ASSISTANT PROFESSOR | Psychiatry
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Dive into the research topics where Silvia De Rubeis is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Altered striatal actin dynamics drives behavioral inflexibility in a mouse model of fragile X syndrome
Mercaldo, V., Vidimova, B., Gastaldo, D., Fernández, E., Lo, A. C., Cencelli, G., Pedini, G., De Rubeis, S., Longo, F., Klann, E., Smit, A. B., Grant, S. G. N., Achsel, T. & Bagni, C., 7 Jun 2023, In: Neuron. 111, 11, p. 1760-1775.e8Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
Pavinato, L., Delle Vedove, A., Carli, D., Ferrero, M., Carestiato, S., Howe, J. L., Agolini, E., Coviello, D. A., Van De Laar, I., Au, P. Y. B., Di Gregorio, E., Fabbiani, A., Croci, S., Mencarelli, M. A., Bruno, L. P., Renieri, A., Veltra, D., Sofocleous, C., Faivre, L., Mazel, B., & 14 others, 1 Feb 2023, In: Brain. 146, 2, p. 534-548 15 p.Research output: Contribution to journal › Article › peer-review
3 Scopus citations -
Modelling eNvironment for Isoforms (MoNvIso): A general platform to predict structural determinants of protein isoforms in genetic diseases
Oliva, F., Musiani, F., Giorgetti, A., De Rubeis, S., Sorokina, O., Armstrong, D. J., Carloni, P. & Ruggerone, P., 9 Jan 2023, In: Frontiers in Chemistry. 10, 1059593.Research output: Contribution to journal › Article › peer-review
Open Access -
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome
the EMTICS collaborative group, The Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS) & The TS-EUROTRAIN Network, Dec 2023, In: Translational Psychiatry. 13, 1, 69.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
Giovenino, C., Trajkova, S., Pavinato, L., Cardaropoli, S., Pullano, V., Ferrero, E., Sukarova-Angelovska, E., Carestiato, S., Salmin, P., Rinninella, A., Battaglia, A., Bertoli, L., Fadda, A., Palermo, F., Carli, D., Mussa, A., Dimartino, P., Bruselles, A., Froukh, T., Mandrile, G., & 9 others, 2023, (Accepted/In press) In: European Journal of Human Genetics.Research output: Contribution to journal › Article › peer-review
Press/Media
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Sven S. Sandin, Silvia De Rubeis, Alexander Kolevzon, Joseph Buxbaum & Behrang Mahjani
18/08/22
1 item of Media coverage
Press/Media
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Researchers shed new light on epigenetic changes associated with ADNP syndrome
6/08/20
1 item of Media coverage
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Mount Sinai Health System: Epigenetic Changes in ADNP Syndrome, a Cause of Autism, Do Not Indicate Profound Presentation of the Disorder
5/08/20
1 item of Media coverage
Press/Media
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Epigenetic Changes in ADNP Syndrome, a Cause of Autism, Do Not Indicate Profound Presentation of the Disorder
5/08/20
3 items of Media coverage
Press/Media