Advanced search

Authors whose works are in public domain in at least one jurisdiction

List of works by Silvia De Rubeis

1-37 of 37 results

View this query on the Wikidata Query Service
Synaptic, transcriptional and chromatin genes disrupted in autism

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

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

scientific journal article
Identification of common genetic risk variants for autism spectrum disorder

scientific article published on 25 February 2019
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
Genetics and genomics of autism spectrum disorder: embracing complexity

scientific article published on July 17, 2015
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

scientific article published on 23 January 2020
Autism spectrum disorder: neuropathology and animal models

scientific article published on 5 June 2017
Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders

scientific article published on August 13, 2011
The GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome

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

scientific article
Recent Advances in the Genetics of Autism Spectrum Disorder

scientific article published on June 1, 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
Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles.

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

scientific article published on 08 September 2015
Acetylation of RTN-1C regulates the induction of ER stress by the inhibition of HDAC activity in neuroectodermal tumors

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

scientific article
Identification of rare de novo epigenetic variations in congenital disorders.

scientific article published on 25 May 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 September 2018
Prospective investigation of FOXP1 syndrome.

scientific article published on 24 October 2017
FXR2P Exerts a Positive Translational Control and Is Required for the Activity-Dependent Increase of PSD95 Expression.

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

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

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

scientific article published in December 2015
Disrupted circuits in mouse models of autism spectrum disorder and intellectual disability.

scientific article published on 5 December 2017
Common risk variants identified in autism spectrum disorder

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

scientific article published on July 2015
Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats

scientific article published on 01 May 2019
Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

scientific article published on 14 July 2020
Linking Autism Risk Genes to Disruption of Cortical Development

scientific article published on 18 November 2020
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
Cohort profile: Epidemiology and Genetics of Obsessive-compulsive disorder and chronic tic disorders in Sweden (EGOS)

scientific article published on 06 January 2020
Nuclear RNA catabolism controls endogenous retroviruses, gene expression asymmetry, and dedifferentiation

scientific article published in December 2023
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

scientific article published on 15 December 2020
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

scientific article published on 03 August 2020

Paulina is supported by:

About Paulina

Help