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List of works by Silvia De Rubeis

A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability

scientific journal article

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.

scientific article published in December 2015

Acetylation of RTN-1C regulates the induction of ER stress by the inhibition of HDAC activity in neuroectodermal tumors

scientific article

Autism spectrum disorder: neuropathology and animal models

scientific article published on 5 June 2017

Cohort profile: Epidemiology and Genetics of Obsessive-compulsive disorder and chronic tic disorders in Sweden (EGOS)

scientific article published on 06 January 2020

Common risk variants identified in autism spectrum disorder

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

scientific article published on 01 September 2018

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

scientific article published on 01 December 2018

Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats

scientific article published on 01 May 2019

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

scientific article

Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles.

scientific article

Disrupted circuits in mouse models of autism spectrum disorder and intellectual disability.

scientific article published on 5 December 2017

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

scientific article published on 03 August 2020

FXR2P Exerts a Positive Translational Control and Is Required for the Activity-Dependent Increase of PSD95 Expression.

scientific article

Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

scientific article published on 15 December 2020

Genetics and genomics of autism spectrum disorder: embracing complexity

scientific article

Identification of common genetic risk variants for autism spectrum disorder

scientific article published on 25 February 2019

Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism

scientific article

Identification of rare de novo epigenetic variations in congenital disorders.

scientific article published on 25 May 2018

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder

scientific article

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

scientific article

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

scientific article published on 23 January 2020

Linking Autism Risk Genes to Disruption of Cortical Development

scientific article published on 18 November 2020

MD and Docking Studies Reveal That the Functional Switch of CYFIP1 is Mediated by a Butterfly-like Motion

scientific article published on July 2015

Molecular and Cellular Aspects of Mental Retardation in the Fragile X Syndrome: From Gene Mutation/s to Spine Dysmorphogenesis ⬇️

scientific article published on January 1, 2012

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment

scientific article published on 08 September 2015

Prospective investigation of FOXP1 syndrome.

scientific article published on 24 October 2017

Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

scientific article published on 14 July 2020

Recent advances in the genetics of autism spectrum disorder

scientific article published on June 2015

Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders ⬇️

scientific article published on August 13, 2011

Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders

scientific article

Synaptic, transcriptional and chromatin genes disrupted in autism

scientific article

The GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome.

scientific article

The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP

scientific article

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis

scientific article

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