Skip to Main Content

Author Details

Silvia De Rubeis
2007
57
29
PMIDPaper TitleJournal TitlePublished Year
37546984Full-Spectrum Neuronal Diversity and Stereotypy through Whole Brain Morphometry.Res Sq2023
35979925CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.Brain2023
37758766Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex.Nat Commun2023
37995687Nuclear RNA catabolism controls endogenous retroviruses, gene expression asymmetry, and dedifferentiation.Mol Cell2023
37403762Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.Genet Med2023
37196654The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.Am J Hum Genet2023
36879111Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.Eur J Hum Genet2023
36996810Altered striatal actin dynamics drives behavioral inflexibility in a mouse model of fragile X syndrome.2023
35322241Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.Eur J Hum Genet2022
35945277Author Correction: Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4.Nature2022
35982160Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.Nat Genet2022
36700074Modelling eNvironment for Isoforms (MoNvIso): A general platform to predict structural determinants of protein isoforms in genetic diseases.2022
33323470Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.J Med Genet2022
34615521How rare and common risk variation jointly affect liability for autism spectrum disorder.Mol Autism2021
33675273Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.Am J Med Genet A2021
33673501Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis.Genes (Basel)2021
33993884Prospective and detailed behavioral phenotyping in DDX3X syndrome.Mol Autism2021
34199759<i>KCNK18</i> Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.Int J Mol Sci2021
34344536Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome.Biol Psychiatry2021
34615535Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder.Mol Autism2021
33218123Linking Autism Risk Genes to Disruption of Cortical Development.Cells2020
31907560Cohort profile: Epidemiology and Genetics of Obsessive-compulsive disorder and chronic tic disorders in Sweden (EGOS).Soc Psychiatry Psychiatr Epidemiol2020
32758449Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.Am J Hum Genet2020
32665711Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.Nat Neurosci2020
30877790Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats.Cereb Cortex2019
31220745Convergence of spectrums: neuronal gene network states in autism spectrum disorder.Current Opinion in Neurobiology2019
31209396Recessive gene disruptions in autism spectrum disorder.Nat Genet2019
29802345Identification of rare de novo epigenetic variations in congenital disorders.Nat Commun2018
29930110Analysis of shared heritability in common disorders of the brain.Science2018
30257206De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.Cell Rep2018
29719671Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by <i>SHANK3</i> point mutations.Mol Autism2018
29222989Disrupted circuits in mouse models of autism spectrum disorder and intellectual disability.Curr Opin Neurobiol2018
28295210Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.Clin Genet2017
28584888Autism spectrum disorder: neuropathology and animal models.Acta Neuropathol2017
28714951Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.Nat Neurosci2017
28713243Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders.Front Mol Neurosci2017
29090079Prospective investigation of FOXP1 syndrome.Mol Autism2017
26620927A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics2016
26575774MD and Docking Studies Reveal That the Functional Switch of CYFIP1 is Mediated by a Butterfly-like Motion.J Chem Theory Comput2015
25882707Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.Hum Mol Genet2015
25790165The GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome.Cell Cycle2015
25946996Recent advances in the genetics of autism spectrum disorder.Curr Neurol Neurosci Rep2015
26188008Genetics and genomics of autism spectrum disorder: embracing complexity.Hum Mol Genet2015
26350728Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.J Child Neurol2015
26109663FXR2P Exerts a Positive Translational Control and Is Required for the Activity-Dependent Increase of PSD95 Expression.Journal of Neuroscience2015
25363760Synaptic, transcriptional and chromatin genes disrupted in autism.Nature2014
25502226Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.PLoS Genet2014
24050404CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation.Neuron2013
24094742Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.Am J Hum Genet2013
23966865Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.PLoS Genet2013
  • 1 - 50 of 57

Recommended Authors

Collaborators

Icahn School of Medicine at Mount Sinai
Co-authored papers 36
Co-authored papers 9
Co-authored papers 8
Co-authored papers 7
Co-authored papers 6
Co-authored papers 6
Karolinska Institutet
Co-authored papers 6
The Hospital for Sick Children
Co-authored papers 6
Massachusetts General Hospital
Co-authored papers 6
Co-authored papers 5
Co-authored papers 5
Co-authored papers 5
Co-authored papers 5
Co-authored papers 4
Co-authored papers 4
Co-authored papers 4
Co-authored papers 4
Co-authored papers 4
Co-authored papers 4
Co-authored papers 4
Co-authored papers 4
Co-authored papers 4
Co-authored papers 4
Broad Institute of MIT and Harvard
Co-authored papers 4
Co-authored papers 4
Emory University School of Medicine
Co-authored papers 3
Co-authored papers 3
Co-authored papers 3
Co-authored papers 3
Co-authored papers 3