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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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Cellular and molecular determinants of DDX3X syndrome
National Institute of Child Health and Human Development
1/05/21 → 30/04/23
Project: Research
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Author Correction: Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4 (Nature, (2022), 606, 7916, (945-952), 10.1038/s41586-022-04844-5)
Campisi, L., Chizari, S., Ho, J. S. Y., Gromova, A., Arnold, F. J., Mosca, L., Mei, X., Fstkchyan, Y., Torre, D., Beharry, C., Garcia-Forn, M., Jiménez-Alcázar, M., Korobeynikov, V. A., Prazich, J., Fayad, Z. A., Seldin, M. M., De Rubeis, S., Bennett, C. L., Ostrow, L. W., Lunetta, C., & 6 others, 25 Aug 2022, In: Nature. 608, 7924, p. E34Research output: Contribution to journal › Comment/debate
Open Access -
Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4
Campisi, L., Chizari, S., Ho, J. S. Y., Gromova, A., Arnold, F., Mosca, L., Mei, X., Fstkchyan, Y., Torre, D., Beharry, C., Garcia-Forn, M., Jiménez-Alcázar, M., Korobeynikov, V. A., Prazich, J., Fayad, Z. A., Seldin, M. M., De Rubeis, S., Bennett, C. L., Ostrow, L. W., Lunetta, C., & 6 others, 30 Jun 2022, In: Nature. 606, 7916, p. 945-952 8 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
Pavinato, L., Villamor-Payà, M., Sanchiz-Calvo, M., Andreoli, C., Gay, M., Vilaseca, M., Arauz-Garofalo, G., Ciolfi, A., Bruselles, A., Pippucci, T., Prota, V., Carli, D., Giorgio, E., Radio, F. C., Antona, V., Giuffrè, M., Ranguin, K., Colson, C., De Rubeis, S., Dimartino, P., & 6 others, 1 Feb 2022, In: Journal of Medical Genetics. 59, 2, p. 170-179 10 p.Research output: Contribution to journal › Article › peer-review
4 Scopus citations -
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
The Autism Sequencing Consortium (ASC), Broad Institute Center for Common Disease Genomics (Broad-CCDG) & iPSYCH-Broad Consortium, 2022, (Accepted/In press) In: Nature Genetics.Research output: Contribution to journal › Article › peer-review
12 Scopus citations -
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
Brea-Fernández, A. J., Álvarez-Barona, M., Amigo, J., Tubío-Fungueiriño, M., Caamaño, P., Fernández-Prieto, M., Barros, F., De Rubeis, S., Buxbaum, J. & Carracedo, Á., Aug 2022, In: European Journal of Human Genetics. 30, 8, p. 938-945 8 p.Research output: Contribution to journal › Article › peer-review
4 Scopus citations
Press / Media
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Behrang Mahjani, Sven S. Sandin, Silvia De Rubeis, Alexander Kolevzon & Joseph Buxbaum
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
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
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Study finds epigenetic signatures show little correlation to severity of autism symptoms
Michael Breen & Silvia De Rubeis
5/08/20
1 item of Media coverage
Press/Media