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Silvia De Rubeis

Researcher at Icahn School of Medicine at Mount Sinai

Publications -  65
Citations -  9883

Silvia De Rubeis is an academic researcher from Icahn School of Medicine at Mount Sinai. The author has contributed to research in topics: Autism spectrum disorder & Gene. The author has an hindex of 30, co-authored 54 publications receiving 6963 citations. Previous affiliations of Silvia De Rubeis include University of York & Mount Sinai Health System.

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Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis, +99 more
- 13 Nov 2014 - 
TL;DR: Using exome sequencing, it is shown that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate of < 0.05, plus a set of 107 genes strongly enriched for those likely to affect risk (FDR < 0.30).
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Analysis of shared heritability in common disorders of the brain

Verneri Anttila, +720 more
- 22 Jun 2018 - 
TL;DR: It is demonstrated that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine, and it is shown that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures.
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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

F. Kyle Satterstrom, +201 more
- 06 Feb 2020 - 
TL;DR: The largest exome sequencing study of autism spectrum disorder (ASD) to date, using an enhanced analytical framework to integrate de novo and case-control rare variation, identifies 102 risk genes at a false discovery rate of 0.1 or less, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.
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Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Phil Lee, +606 more
- 12 Dec 2019 - 
TL;DR: Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci within genes that show heightened expression in the brain throughout the lifespan, beginning prenatally in the second trimester, and play prominent roles in neurodevelopmental processes.
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The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP.

Ilaria Napoli, +16 more
- 19 Sep 2008 - 
TL;DR: The fragile X mental retardation protein (FMRP) acts by inhibiting translation initiation, and the translational repression activity of FMRP in the brain is mediated, at least in part, by CYFIP1.