Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
It is well established that autism spectrum disorders (ASD) have a strong genetic
component; however, for at least 70% of cases, the underlying genetic cause is unknown …
component; however, for at least 70% of cases, the underlying genetic cause is unknown …
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Autism spectrum disorders (ASD) are believed to have genetic and environmental origins,
yet in only a modest fraction of individuals can specific causes be identified,. To identify …
yet in only a modest fraction of individuals can specific causes be identified,. To identify …
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 …
The contribution of de novo coding mutations to autism spectrum disorder
Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
BJ O'Roak, P Deriziotis, C Lee, L Vives, JJ Schwartz… - Nature …, 2011 - nature.com
Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a
strong genetic component complicated by substantial locus heterogeneity,. We sequenced …
strong genetic component complicated by substantial locus heterogeneity,. We sequenced …
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 …
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 …
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Autism spectrum disorders (ASDs) are childhood neurodevelopmental disorders with
complex genetic origins,,,. Previous studies focusing on candidate genes or genomic …
complex genetic origins,,,. Previous studies focusing on candidate genes or genomic …
Patterns of de novo tandem repeat mutations and their role in autism
Autism spectrum disorder (ASD) is an early-onset developmental disorder characterized by
deficits in communication and social interaction and restrictive or repetitive behaviours …
deficits in communication and social interaction and restrictive or repetitive behaviours …
Recessive gene disruptions in autism spectrum disorder
Autism spectrum disorder (ASD) affects up to 1 in 59 individuals. Genome-wide association
and large-scale sequencing studies strongly implicate both common variants,–and rare de …
and large-scale sequencing studies strongly implicate both common variants,–and rare de …