The genetic control of stoichiometry underlying autism

RB Darnell - Annual review of neuroscience, 2020 - annualreviews.org
Autism is a common and complex neurologic disorder whose scientific underpinnings have
begun to be established in the past decade. The essence of this breakthrough has been a …

Current perspectives in autism spectrum disorder: from genes to therapy

M Chahrour, BJ O'Roak, E Santini… - Journal of …, 2016 - Soc Neuroscience
Autism spectrum disorder (ASD) is a constellation of neurodevelopmental presentations with
high heritability and both phenotypic and genetic heterogeneity. To date, mutations in …

Autism spectrum disorders: from genes to neurobiology

AJ Willsey, MW State - Current opinion in neurobiology, 2015 - Elsevier
Highlights•High throughput genomic methods are rapidly increasing the pool of ASD
genes.•Heterogeneity, pleiotropy, and brain complexity complicate translation to …

[引用][C] The when and where: molecular and cellular convergence in autism

ST Schafer, FH Gage - Biological Psychiatry, 2021 - biologicalpsychiatryjournal.com
Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental condition that is
among the most devastating disorders of childhood in terms of prevalence, morbidity …

Progress in the Puzzle Resolution: The Molecular Genetics Underpinning Autism Spectrum Disorders

A Mezzelani, FA Cupaioli - Brain Sciences, 2023 - mdpi.com
Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by
impairments in social interaction, communication, and the presence of restricted, repetitive …

Recent advances in understanding the genetic architecture of autism

CM Dias, CA Walsh - Annual Review of Genomics and Human …, 2020 - annualreviews.org
Recent advances in understanding the genetic architecture of autism spectrum disorder
have allowed for unprecedented insight into its biological underpinnings. New studies have …

Links between genetics and pathophysiology in the autism spectrum disorders

R Holt, AP Monaco - EMBO molecular medicine, 2011 - embopress.org
Autism spectrum disorders (ASD) are important neuropsychiatric disorders, currently
estimated to affect approximately 1% of children, with considerable emotional and financial …

Gene expression studies in autism: moving from the genome to the transcriptome and beyond

I Voineagu - Neurobiology of disease, 2012 - Elsevier
Autism is a clinically and genetically heterogeneous neurodevelopmental disorder. Although
multiple genes, risk alleles and copy number variants (CNVs) have been implicated in ASD …

Genetic heterogeneity in autism: From single gene to a pathway perspective

JY An, C Claudianos - Neuroscience & Biobehavioral Reviews, 2016 - Elsevier
The extreme genetic heterogeneity of autism spectrum disorder (ASD) represents a major
challenge. Recent advances in genetic screening and systems biology approaches have …

If genetic variation could talk: What genomic data may teach us about the importance of gene expression regulation in the genetics of autism

E Yeh, LA Weiss - Molecular and cellular probes, 2016 - Elsevier
Autism spectrum disorder (ASD) has been long known to have substantial genetic etiology.
Much research has attempted to identify specific genes contributing to ASD risk with the goal …