Most genetic risk for autism resides with common variation
T Gaugler, L Klei, SJ Sanders, CA Bodea…�- Nature�…, 2014 - nature.com
A key component of genetic architecture is the allelic spectrum influencing trait variability.
For autism spectrum disorder (herein termed autism), the nature of the allelic spectrum is�…
For autism spectrum disorder (herein termed autism), the nature of the allelic spectrum is�…
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�…
Recent ultra-rare inherited variants implicate new autism candidate risk genes
Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families�…
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families�…
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo
variation. We aimed to clarify the influence of polygenic risk for ASD and to identify�…
variation. We aimed to clarify the influence of polygenic risk for ASD and to identify�…
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�…
[HTML][HTML] Common genetic variants, acting additively, are a major source of risk for autism
L Klei, SJ Sanders, MT Murtha, V Hus, JK Lowe…�- Molecular autism, 2012 - Springer
Background Autism spectrum disorders (ASD) are early onset neurodevelopmental
syndromes typified by impairments in reciprocal social interaction and communication�…
syndromes typified by impairments in reciprocal social interaction and communication�…
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�…
[HTML][HTML] Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new�…
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new�…
Individual common variants exert weak effects on the risk for autism spectrum disorders
While it is apparent that rare variation can play an important role in the genetic architecture
of autism spectrum disorders (ASDs), the contribution of common variation to the risk of�…
of autism spectrum disorders (ASDs), the contribution of common variation to the risk of�…
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�…