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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Overview of attention for article published in Nature, April 2012
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  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (99th percentile)
  • High Attention Score compared to outputs of the same age and source (93rd percentile)

Citations

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1803 Dimensions

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1673 Mendeley
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18 CiteULike
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Title
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Published in
Nature, April 2012
DOI 10.1038/nature10945
Pubmed ID
Authors

Stephan J. Sanders, Michael T. Murtha, Abha R. Gupta, John D. Murdoch, Melanie J. Raubeson, A. Jeremy Willsey, A. Gulhan Ercan-Sencicek, Nicholas M. DiLullo, Neelroop N. Parikshak, Jason L. Stein, Michael F. Walker, Gordon T. Ober, Nicole A. Teran, Youeun Song, Paul El-Fishawy, Ryan C. Murtha, Murim Choi, John D. Overton, Robert D. Bjornson, Nicholas J. Carriero, Kyle A. Meyer, Kaya Bilguvar, Shrikant M. Mane, Nenad Šestan, Richard P. Lifton, Murat Günel, Kathryn Roeder, Daniel H. Geschwind, Bernie Devlin, Matthew W. State

Abstract

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 have been identified in affected individuals, their contribution to risk has yet to be clarified. Specifically, the frequency and distribution of these mutations have not been well characterized in matched unaffected controls, and such data are vital to the interpretation of de novo coding mutations observed in probands. Here we show, using whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with autism spectrum disorders and carry large effects. On the basis of mutation rates in unaffected individuals, we demonstrate that multiple independent de novo single nucleotide variants in the same gene among unrelated probands reliably identifies risk alleles, providing a clear path forward for gene discovery. Among a total of 279 identified de novo coding mutations, there is a single instance in probands, and none in siblings, in which two independent nonsense variants disrupt the same gene, SCN2A (sodium channel, voltage-gated, type II, α subunit), a result that is highly unlikely by chance.

X Demographics

X Demographics

The data shown below were collected from the profiles of 51 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 1,673 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 48 3%
United Kingdom 10 <1%
Netherlands 6 <1%
Brazil 6 <1%
Italy 5 <1%
Germany 5 <1%
Japan 4 <1%
Canada 4 <1%
France 2 <1%
Other 19 1%
Unknown 1564 93%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 388 23%
Researcher 348 21%
Student > Master 170 10%
Student > Bachelor 145 9%
Professor > Associate Professor 105 6%
Other 313 19%
Unknown 204 12%
Readers by discipline Count As %
Agricultural and Biological Sciences 532 32%
Biochemistry, Genetics and Molecular Biology 282 17%
Medicine and Dentistry 217 13%
Neuroscience 175 10%
Psychology 74 4%
Other 135 8%
Unknown 258 15%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 200. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 20 February 2024.
All research outputs
#198,264
of 25,530,891 outputs
Outputs from Nature
#11,852
of 98,180 outputs
Outputs of similar age
#775
of 173,772 outputs
Outputs of similar age from Nature
#74
of 1,049 outputs
Altmetric has tracked 25,530,891 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 99th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 98,180 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 102.6. This one has done well, scoring higher than 87% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 173,772 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 99% of its contemporaries.
We're also able to compare this research output to 1,049 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 93% of its contemporaries.