[HTML][HTML] Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism

NN Parikshak, R Luo, A Zhang, H Won, JK Lowe… - Cell, 2013 - cell.com
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 …

Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism

G Ramaswami, H Won, MJ Gandal, J Haney… - Nature …, 2020 - nature.com
Autism spectrum disorder (ASD) is a phenotypically and genetically heterogeneous
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 …

Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang… - Nature Reviews …, 2022 - nature.com
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 …

Getting to the cores of autism

LM Iakoucheva, AR Muotri, J Sebat - Cell, 2019 - cell.com
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 …

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 …

[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 …

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 …

New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders

M Moyses-Oliveira, R Yadav, S Erdin… - Current Opinion in …, 2020 - Elsevier
Highlights•Exome sequencing on unprecedented scale has identified 400 genes associated
with ASD and NDD.•Functional networks disrupted in NDD converge on distinct …

Inherited and de novo genetic risk for autism impacts shared networks

EK Ruzzo, L Pérez-Cano, JY Jung, L Wang… - Cell, 2019 - cell.com
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 …