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

Brian J. O’Roak; Laura Vives; Santhosh Girirajan; Emre Karakoç; Niklas Krumm; Bradley P. Coe; Roie Levy; Arthur Ko; Choli Lee; Joshua D. Smith; Emily H. Turner; Ian B. Stanaway; Benjamin Vernot; Maika Malig; Carl Baker; Beau Reilly; Joshua M. Akey; Elhanan Borenstein; Mark J. Rieder; Deborah A. Nickerson; Raphael Bernier; Jay Shendure; Evan E. Eichler

doi:10.1038/nature10989

Keywords

Exome sequencingGeneticsBiologyLocus (genetics)ExomeProbandGeneCandidate geneAutismGenetic heterogeneityPhenotypeAutism spectrum disorderLocus heterogeneityMutationMedicine

Affiliated Institutions

Related Publications

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

F. Kyle Satterstrom , Jack A. Kosmicki , Jiebiao Wang +97 more

We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework ...

2020 Cell 2225 citations

Direct estimates of human per nucleotide mutation rates at 20 loci causing mendelian diseases

Alexey S. Kondrashov

I estimate per nucleotide rates of spontaneous mutations of different kinds in humans directly from the data on per locus mutation rates and on sequences of de novo nonsense nuc...

2002 Human Mutation 350 citations

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Andrea Ganna , F. Kyle Satterstrom , Seyedeh M. Zekavat +41 more

There is a limited understanding about the impact of rare protein-truncating variants across multiple phenotypes. We explore the impact of this class of variants on 13 quantitat...

2018 Helda (University of Helsinki) 119 citations

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Caroline F. Wright , Tomas Fitzgerald , Wendy D. Jones +29 more

Human genome sequencing has transformed our understanding of genomic variation and its relevance to health and disease, and is now starting to enter clinical practice for the di...

2014 The Lancet 784 citations

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Brian J. O’Roak , Pelagia Deriziotis , Choli Lee +13 more

2011 Nature Genetics 1202 citations

Publication Info

Year: 2012
Type: article
Volume: 485
Issue: 7397
Pages: 246-250
Citations: 2189
Access: Closed

External Links

View on DOI.org

Social Impact

Altmetric

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

PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

2189

OpenAlex

Cite This

APA Style

                            
                                
                                    Brian J. O’Roak, 
                                
                                    Laura Vives, 
                                
                                    Santhosh Girirajan
                                
                                et al.
                            
                            (2012). 
                            Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 
                            Nature
                            , 485
                            (7397)
                            , 246-250.
                            https://doi.org/10.1038/nature10989
                        

Identifiers

DOI: 10.1038/nature10989