A cell type‐specific expression signature predicts haploinsufficient autism‐susceptibility genes
Recent studies have identified many genes with rare de novo mutations in autism, but a
limited number of these have been conclusively established as disease‐susceptibility genes …
limited number of these have been conclusively established as disease‐susceptibility genes …
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] Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
Background We previously performed targeted sequencing of autism risk genes in probands
from the Autism Clinical and Genetic Resources in China (ACGC)(phase I). Here, we …
from the Autism Clinical and Genetic Resources in China (ACGC)(phase I). Here, we …
[HTML][HTML] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
[HTML][HTML] Insufficient evidence for “autism-specific” genes
Despite evidence that deleterious variants in the same genes are implicated across multiple
neurodevelopmental and neuropsychiatric disorders, there has been considerable interest …
neurodevelopmental and neuropsychiatric disorders, there has been considerable interest …
Genetic contributions to autism spectrum disorder
A Havdahl, M Niarchou, A Starnawska… - Psychological …, 2021 - cambridge.org
Autism spectrum disorder (autism) is a heterogeneous group of neurodevelopmental
conditions characterized by early childhood-onset impairments in communication and social …
conditions characterized by early childhood-onset impairments in communication and social …
[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 …
Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression
E Ben-David, E Granot-Hershkovitz… - Human molecular …, 2011 - academic.oup.com
Recent work has led to the identification of several susceptibility genes for autism spectrum
disorder (ASD) and an increased appreciation of the importance of rare and de novo …
disorder (ASD) and an increased appreciation of the importance of rare and de novo …
[HTML][HTML] Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
ME Talkowski, JA Rosenfeld, I Blumenthal… - Cell, 2012 - cell.com
Balanced chromosomal abnormalities (BCAs) represent a relatively untapped reservoir of
single-gene disruptions in neurodevelopmental disorders (NDDs). We sequenced BCAs in …
single-gene disruptions in neurodevelopmental disorders (NDDs). We sequenced BCAs in …
Rare variants and the oligogenic architecture of autism
T Wang, PA Zhao, EE Eichler - Trends in Genetics, 2022 - cell.com
Most large-scale genetic studies of autism have focused on the discovery of genes by
proving an enrichment of de novo mutations (DNMs) in autism probands or characterizing …
proving an enrichment of de novo mutations (DNMs) in autism probands or characterizing …