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Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

Overview of attention for article published in Neuron, September 2015
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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 (98th percentile)
  • High Attention Score compared to outputs of the same age and source (90th percentile)

Citations

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692 Dimensions

Readers on

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831 Mendeley
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1 CiteULike
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Title
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
Published in
Neuron, September 2015
DOI 10.1016/j.neuron.2015.09.016
Pubmed ID
Authors

Stephan J. Sanders, Xin He, A. Jeremy Willsey, A. Gulhan Ercan-Sencicek, Kaitlin E. Samocha, A. Ercument Cicek, Michael T. Murtha, Vanessa H. Bal, Somer L. Bishop, Shan Dong, Arthur P. Goldberg, Cai Jinlu, John F. Keaney, Lambertus Klei, Jeffrey D. Mandell, Daniel Moreno-De-Luca, Christopher S. Poultney, Elise B. Robinson, Louw Smith, Tor Solli-Nowlan, Mack Y. Su, Nicole A. Teran, Michael F. Walker, Donna M. Werling, Arthur L. Beaudet, Rita M. Cantor, Eric Fombonne, Daniel H. Geschwind, Dorothy E. Grice, Catherine Lord, Jennifer K. Lowe, Shrikant M. Mane, Donna M. Martin, Eric M. Morrow, Michael E. Talkowski, James S. Sutcliffe, Christopher A. Walsh, Timothy W. Yu, David H. Ledbetter, Christa Lese Martin, Edwin H. Cook, Joseph D. Buxbaum, Mark J. Daly, Bernie Devlin, Kathryn Roeder, Matthew W. State

Abstract

Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published CNV data from the Autism Genome Project (AGP) and exome sequencing data from the SSC and the Autism Sequencing Consortium (ASC) shows that genes within small de novo deletions, but not within large dnCNVs, significantly overlap the high-effect risk genes identified by sequencing. Alternatively, large dnCNVs are found likely to contain multiple modest-effect risk genes. Overall, we find strong evidence that de novo mutations are associated with ASD apart from the risk for intellectual disability. Extending the transmission and de novo association test (TADA) to include small de novo deletions reveals 71 ASD risk loci, including 6 CNV regions (noted above) and 65 risk genes (FDR ≤ 0.1).

Twitter Demographics

The data shown below were collected from the profiles of 54 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 831 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 14 2%
United Kingdom 6 <1%
France 3 <1%
Brazil 2 <1%
Italy 2 <1%
Spain 2 <1%
Mexico 1 <1%
China 1 <1%
Germany 1 <1%
Other 1 <1%
Unknown 798 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 188 23%
Researcher 179 22%
Student > Master 83 10%
Student > Bachelor 77 9%
Student > Doctoral Student 51 6%
Other 152 18%
Unknown 101 12%
Readers by discipline Count As %
Agricultural and Biological Sciences 193 23%
Biochemistry, Genetics and Molecular Biology 162 19%
Neuroscience 145 17%
Medicine and Dentistry 97 12%
Psychology 48 6%
Other 67 8%
Unknown 119 14%

Attention Score in Context

This research output has an Altmetric Attention Score of 107. 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 19 October 2019.
All research outputs
#206,408
of 16,251,718 outputs
Outputs from Neuron
#444
of 8,143 outputs
Outputs of similar age
#4,276
of 251,364 outputs
Outputs of similar age from Neuron
#11
of 110 outputs
Altmetric has tracked 16,251,718 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 98th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 8,143 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 26.2. This one has done particularly well, scoring higher than 94% 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 251,364 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 98% of its contemporaries.
We're also able to compare this research output to 110 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 90% of its contemporaries.