[HTML][HTML] De novo missense variants disrupting protein–protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell�…
Background Whole-exome sequencing studies have been useful for identifying genes that,
when mutated, affect risk for autism spectrum disorder (ASD). Nonetheless, the association�…
when mutated, affect risk for autism spectrum disorder (ASD). Nonetheless, the association�…
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders
Identifying disease-associated missense mutations remains a challenge, especially in large-
scale sequencing studies. Here we establish an experimentally and computationally�…
scale sequencing studies. Here we establish an experimentally and computationally�…
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
Individuals with autism spectrum disorder (ASD) or related neurodevelopmental disorders
(NDDs) often carry disruptive mutations in genes that are depleted of functional variation in�…
(NDDs) often carry disruptive mutations in genes that are depleted of functional variation in�…
[HTML][HTML] Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism
Increased risk for autism spectrum disorders (ASD) is attributed to hundreds of genetic loci.
The convergence of ASD variants have been investigated using various approaches�…
The convergence of ASD variants have been investigated using various approaches�…
[HTML][HTML] Protein interaction studies in human induced neurons indicate convergent biology underlying autism spectrum disorders
Autism spectrum disorders (ASDs) have been linked to genes with enriched expression in
the brain, but it is unclear how these genes converge into cell-type-specific networks. We�…
the brain, but it is unclear how these genes converge into cell-type-specific networks. We�…
Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk
We present the largest exome sequencing study to date focused on rare variation in autism
spectrum disorder (ASD)(n= 35,584). Integrating de novo and case-control variation with an�…
spectrum disorder (ASD)(n= 35,584). Integrating de novo and case-control variation with an�…
[HTML][HTML] An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder
A number of genetic studies have identified rare protein-coding DNA variations associated
with autism spectrum disorder (ASD), a neurodevelopmental disorder with significant�…
with autism spectrum disorder (ASD), a neurodevelopmental disorder with significant�…
Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong
genetic basis. Yet, only a small fraction of potentially causal genes—about 65 genes out of�…
genetic basis. Yet, only a small fraction of potentially causal genes—about 65 genes out of�…
Autism genetics perturb prenatal neurodevelopment through a hierarchy of broadly-expressed and brain-specific genes
Numerous genes are associated with autism spectrum disorder (ASD); however, it remains
unclear how most ASD risk genes influence neurodevelopment and result in similar traits�…
unclear how most ASD risk genes influence neurodevelopment and result in similar traits�…
[HTML][HTML] 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�…