Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …
observed in the general population. We explored the genes disrupted by these variants from …
Excess of rare, inherited truncating mutations in autism
To assess the relative impact of inherited and de novo variants on autism risk, we generated
a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number variants …
a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number variants …
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how
combinations of genetic factors determine risk is unclear. In a large family sample, we show …
combinations of genetic factors determine risk is unclear. In a large family sample, we show …
Frequency and complexity of de novo structural mutation in autism
Genetic studies of autism spectrum disorder (ASD) have established that de novo
duplications and deletions contribute to risk. However, ascertainment of structural variants …
duplications and deletions contribute to risk. However, ascertainment of structural variants …
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 …
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 …
Genome-wide characteristics of de novo mutations in autism
De novo mutations (DNMs) are important in autism spectrum disorder (ASD), but so far
analyses have mainly been on the~ 1.5% of the genome encoding genes. Here, we …
analyses have mainly been on the~ 1.5% of the genome encoding genes. Here, we …
Synaptic, transcriptional and chromatin genes disrupted in autism
The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …
Whole-genome sequencing of quartet families with autism spectrum disorder
Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds of
susceptibility loci. Previous microarray and exome-sequencing studies have examined …
susceptibility loci. Previous microarray and exome-sequencing studies have examined …
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
SJ Sanders, MT Murtha, AR Gupta, JD Murdoch… - Nature, 2012 - nature.com
Multiple studies have confirmed the contribution of rare de novo copy number variations to
the risk for autism spectrum disorders,,. But whereas de novo single nucleotide variants …
the risk for autism spectrum disorders,,. But whereas de novo single nucleotide variants …