Lista de obras - Silvia De Rubeis - Dominio Público Uruguay

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.

artículo científico publicado en 2015

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

artículo científico publicado en 2009

Autism spectrum disorder: neuropathology and animal models

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2020

Genetics and genomics of autism spectrum disorder: embracing complexity

artículo científico publicado en 2015

Identification of common genetic risk variants for autism spectrum disorder

artículo científico publicado en 2019

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

artículo científico publicado en 2014

Identification of rare de novo epigenetic variations in congenital disorders.

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico

Prospective investigation of FOXP1 syndrome.

artículo científico publicado en 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

artículo científico

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

artículo científico publicado el 13 de agosto de 2011

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

artículo científico publicado en 2017

Synaptic, transcriptional and chromatin genes disrupted in autism

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

Lista de obras de Silvia De Rubeis

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

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

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

Autism spectrum disorder: neuropathology and animal models

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

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

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

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

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

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

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

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

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

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

Genetics and genomics of autism spectrum disorder: embracing complexity

Identification of common genetic risk variants for autism spectrum disorder

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

Identification of rare de novo epigenetic variations in congenital disorders.

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

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

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

Linking Autism Risk Genes to Disruption of Cortical Development

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

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

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

Prospective investigation of FOXP1 syndrome.

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

Recent advances in the genetics of autism spectrum disorder

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

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

Synaptic, transcriptional and chromatin genes disrupted in autism

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

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

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