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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 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (94th percentile)
  • Good Attention Score compared to outputs of the same age and source (79th percentile)

Mentioned by

blogs
1 blog
twitter
19 X users
patent
3 patents
weibo
11 weibo users

Citations

dimensions_citation
148 Dimensions

Readers on

mendeley
226 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.

X Demographics

X Demographics

The data shown below were collected from the profiles of 19 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 226 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 2 <1%
Spain 1 <1%
Iceland 1 <1%
Brazil 1 <1%
Unknown 221 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 42 19%
Researcher 42 19%
Student > Master 30 13%
Student > Doctoral Student 20 9%
Student > Postgraduate 11 5%
Other 36 16%
Unknown 45 20%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 36 16%
Agricultural and Biological Sciences 34 15%
Neuroscience 29 13%
Medicine and Dentistry 25 11%
Psychology 19 8%
Other 30 13%
Unknown 53 23%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 30. 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 05 December 2023.
All research outputs
#1,324,898
of 25,403,829 outputs
Outputs from Cell Reports
#3,046
of 12,995 outputs
Outputs of similar age
#14,351
of 265,526 outputs
Outputs of similar age from Cell Reports
#43
of 205 outputs
Altmetric has tracked 25,403,829 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 94th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 12,995 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 30.3. This one has done well, scoring higher than 76% 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 265,526 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 205 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 79% of its contemporaries.