[HTML][HTML] Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism
Genetic studies have identified dozens of autism spectrum disorder (ASD) susceptibility
genes, raising two critical questions:(1) do these genetic loci converge on specific biological …
genes, raising two critical questions:(1) do these genetic loci converge on specific biological …
Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism
Autism spectrum disorder (ASD) is a phenotypically and genetically heterogeneous
neurodevelopmental disorder. Despite this heterogeneity, previous studies have shown …
neurodevelopmental disorder. Despite this heterogeneity, previous studies have shown …
Expression profiling of autism candidate genes during human brain development implicates central immune signaling pathways
MN Ziats, OM Rennert - PloS one, 2011 - journals.plos.org
The Autism Spectrum Disorders (ASD) represent a clinically heterogeneous set of conditions
with strong hereditary components. Despite substantial efforts to uncover the genetic basis …
with strong hereditary components. Despite substantial efforts to uncover the genetic basis …
Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
Getting to the cores of autism
The genetic architecture of autism spectrum disorder (ASD) is itself a diverse allelic
spectrum that consists of rare de novo or inherited variants in hundreds of genes and …
spectrum that consists of rare de novo or inherited variants in hundreds of genes and …
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 …
genes.•Heterogeneity, pleiotropy, and brain complexity complicate translation to …
[HTML][HTML] Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies
L Choi, JY An - Neuroscience & Biobehavioral Reviews, 2021 - Elsevier
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic
component. Recently developed genomic technologies, including microarray and next …
component. Recently developed genomic technologies, including microarray and next …
Networks of neuronal genes affected by common and rare variants in autism spectrum disorders
E Ben-David, S Shifman - PLoS genetics, 2012 - journals.plos.org
Autism spectrum disorders (ASD) are neurodevelopmental disorders with phenotypic and
genetic heterogeneity. Recent studies have reported rare and de novo mutations in ASD, but …
genetic heterogeneity. Recent studies have reported rare and de novo mutations in ASD, but …
New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders
Highlights•Exome sequencing on unprecedented scale has identified 400 genes associated
with ASD and NDD.•Functional networks disrupted in NDD converge on distinct …
with ASD and NDD.•Functional networks disrupted in NDD converge on distinct …
Inherited and de novo genetic risk for autism impacts shared networks
We performed a comprehensive assessment of rare inherited variation in autism spectrum
disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families …
disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families …