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De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder

Overview of attention for article published in Cell Reports, October 2014
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (94th percentile)
  • High Attention Score compared to outputs of the same age and source (81st percentile)

Mentioned by

blogs
1 blog
twitter
23 tweeters
weibo
11 weibo users

Citations

dimensions_citation
88 Dimensions

Readers on

mendeley
150 Mendeley
citeulike
3 CiteULike
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Title
De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder
Published in
Cell Reports, October 2014
DOI 10.1016/j.celrep.2014.08.068
Pubmed ID
Authors

Shan Dong, Michael F. Walker, Nicholas J. Carriero, Michael DiCola, A. Jeremy Willsey, Adam Y. Ye, Zainulabedin Waqar, Luis E. Gonzalez, John D. Overton, Stephanie Frahm, John F. Keaney, Nicole A. Teran, Jeanselle Dea, Jeffrey D. Mandell, Vanessa Hus Bal, Catherine A. Sullivan, Nicholas M. DiLullo, Rehab O. Khalil, Jake Gockley, Zafer Yuksel, Sinem M. Sertel, A. Gulhan Ercan-Sencicek, Abha R. Gupta, Shrikant M. Mane, Michael Sheldon, Andrew I. Brooks, Kathryn Roeder, Bernie Devlin, Matthew W. State, Liping Wei, Stephan J. Sanders

Abstract

Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single-nucleotide variants (SNVs) to autism spectrum disorder (ASD). However, challenges in the reliable detection of de novo insertions and deletions (indels) have limited inclusion of these variants in prior analyses. By applying a robust indel detection method to WES data from 787 ASD families (2,963 individuals), we demonstrate that de novo frameshift indels contribute to ASD risk (OR = 1.6; 95% CI = 1.0-2.7; p = 0.03), are more common in female probands (p = 0.02), are enriched among genes encoding FMRP targets (p = 6 × 10(-9)), and arise predominantly on the paternal chromosome (p < 0.001). On the basis of mutation rates in probands versus unaffected siblings, we conclude that de novo frameshift indels contribute to risk in approximately 3% of individuals with ASD. Finally, by observing clustering of mutations in unrelated probands, we uncover two ASD-associated genes: KMT2E (MLL5), a chromatin regulator, and RIMS1, a regulator of synaptic vesicle release.

Twitter Demographics

The data shown below were collected from the profiles of 23 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 150 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 3 2%
Spain 1 <1%
Iceland 1 <1%
Brazil 1 <1%
Unknown 144 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 37 25%
Researcher 29 19%
Student > Master 20 13%
Student > Doctoral Student 13 9%
Student > Postgraduate 9 6%
Other 24 16%
Unknown 18 12%
Readers by discipline Count As %
Agricultural and Biological Sciences 30 20%
Biochemistry, Genetics and Molecular Biology 23 15%
Neuroscience 22 15%
Medicine and Dentistry 22 15%
Psychology 15 10%
Other 15 10%
Unknown 23 15%

Attention Score in Context

This research output has an Altmetric Attention Score of 28. 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 01 June 2015.
All research outputs
#558,721
of 13,137,393 outputs
Outputs from Cell Reports
#1,361
of 6,234 outputs
Outputs of similar age
#10,924
of 211,407 outputs
Outputs of similar age from Cell Reports
#38
of 206 outputs
Altmetric has tracked 13,137,393 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 95th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 6,234 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 25.9. This one has done well, scoring higher than 78% 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 211,407 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 94% of its contemporaries.
We're also able to compare this research output to 206 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 81% of its contemporaries.