Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

BJ O'Roak, L Vives, S Girirajan, E Karakoc, N Krumm… - Nature, 2012 - nature.com
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 …

Patterns and rates of exonic de novo mutations in autism spectrum disorders

BM Neale, Y Kou, L Liu, A Ma'Ayan, KE Samocha… - Nature, 2012 - nature.com
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 …

Whole-genome sequencing of quartet families with autism spectrum disorder

RKC Yuen, B Thiruvahindrapuram, D Merico… - Nature medicine, 2015 - nature.com
Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds of
susceptibility loci. Previous microarray and exome-sequencing studies have examined …

The contribution of de novo coding mutations to autism spectrum disorder

I Iossifov, BJ O'roak, SJ Sanders, M Ronemus… - Nature, 2014 - nature.com
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 …

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 …

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 …

Synaptic, transcriptional and chromatin genes disrupted in autism

S De Rubeis, X He, AP Goldberg, CS Poultney… - Nature, 2014 - nature.com
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 …

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

JT Glessner, K Wang, G Cai, O Korvatska, CE Kim… - Nature, 2009 - nature.com
Autism spectrum disorders (ASDs) are childhood neurodevelopmental disorders with
complex genetic origins,,,. Previous studies focusing on candidate genes or genomic …

Patterns of de novo tandem repeat mutations and their role in autism

I Mitra, B Huang, N Mousavi, N Ma, M Lamkin… - Nature, 2021 - nature.com
Autism spectrum disorder (ASD) is an early-onset developmental disorder characterized by
deficits in communication and social interaction and restrictive or repetitive behaviours …

Recessive gene disruptions in autism spectrum disorder

RN Doan, ET Lim, S De Rubeis, C Betancur… - Nature …, 2019 - nature.com
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 …