DE NOVO MUTATIONS IN AUTISM IMPLICATE THE SYNAPTIC ELIMINATION NETWORK
GR Venkataraman, C O'CONNELL… - PACIFIC …, 2017 - World Scientific
Autism has been shown to have a major genetic risk component; the architecture of
documented autism in families has been over and again shown to be passed down for …
documented autism in families has been over and again shown to be passed down for …
Systematic reconstruction of autism biology from massive genetic mutation profiles
Autism spectrum disorder (ASD) affects 1% of world population and has become a pressing
medical and social problem worldwide. As a paradigmatic complex genetic disease, ASD …
medical and social problem worldwide. As a paradigmatic complex genetic disease, ASD …
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses
Identification of complex molecular networks underlying common human phenotypes is a
major challenge of modern genetics. In this study, we develop a method for network-based …
major challenge of modern genetics. In this study, we develop a method for network-based …
Solving the autism puzzle a few pieces at a time
In this issue, a pair of studies (Levy et al. and Sanders et al.) identify several de novo copy-
number variants that together account for 5%–8% of cases of simplex autism spectrum …
number variants that together account for 5%–8% of cases of simplex autism spectrum …
Autism cornered: network analyses reveal mechanisms of autism spectrum disorders
C Auffray - Molecular Systems Biology, 2014 - embopress.org
Despite a wealth of behavioral, cognitive, biological, and genetic studies, the causes of
autism have remained largely unknown. In their recent work, Snyder and colleagues (Li et …
autism have remained largely unknown. In their recent work, Snyder and colleagues (Li et …
Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection …
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by
communication deficits and repetitive behavioral patterns. Hundreds of candidate genes …
communication deficits and repetitive behavioral patterns. Hundreds of candidate genes …
Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants
Background Autism spectrum disorder (ASD) is highly heritable, yet genome-wide
association studies (GWAS), copy number variation screens, and candidate gene …
association studies (GWAS), copy number variation screens, and candidate gene …
New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders
Highlights•Exome sequencing on unprecedented scale has identified 400 genes associated
with ASD and NDD.•Functional networks disrupted in NDD converge on distinct …
with ASD and NDD.•Functional networks disrupted in NDD converge on distinct …
Genome-wide characterization of genetic and functional dysregulation in autism spectrum disorder
Autism spectrum disorder (ASD) is a range of major neurodevelopmental disabilities with a
strong genetic basis. Yet, owing to extensive genetic heterogeneity, multiple modes of …
strong genetic basis. Yet, owing to extensive genetic heterogeneity, multiple modes of …
Inherited and de novo genetic risk for autism impacts shared networks
We performed a comprehensive assessment of rare inherited variation in autism spectrum
disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families …
disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families …