↓ Skip to main content

Synaptic, transcriptional and chromatin genes disrupted in autism

Overview of attention for article published in Nature, October 2014
Altmetric Badge

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 (99th percentile)
  • High Attention Score compared to outputs of the same age and source (93rd percentile)

Mentioned by

news
17 news outlets
blogs
16 blogs
twitter
237 X users
patent
21 patents
peer_reviews
1 peer review site
weibo
11 weibo users
facebook
6 Facebook pages
wikipedia
4 Wikipedia pages
googleplus
9 Google+ users
video
1 YouTube creator

Citations

dimensions_citation
2212 Dimensions

Readers on

mendeley
2250 Mendeley
citeulike
10 CiteULike
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Synaptic, transcriptional and chromatin genes disrupted in autism
Published in
Nature, October 2014
DOI 10.1038/nature13772
Pubmed ID
Authors

Silvia De Rubeis, Xin He, Arthur P. Goldberg, Christopher S. Poultney, Kaitlin Samocha, A. Ercument Cicek, Yan Kou, Li Liu, Menachem Fromer, Susan Walker, Tarjinder Singh, Lambertus Klei, Jack Kosmicki, Shih-Chen Fu, Branko Aleksic, Monica Biscaldi, Patrick F. Bolton, Jessica M. Brownfeld, Jinlu Cai, Nicholas G. Campbell, Angel Carracedo, Maria H. Chahrour, Andreas G. Chiocchetti, Hilary Coon, Emily L. Crawford, Lucy Crooks, Sarah R. Curran, Geraldine Dawson, Eftichia Duketis, Bridget A. Fernandez, Louise Gallagher, Evan Geller, Stephen J. Guter, R. Sean Hill, Iuliana Ionita-Laza, Patricia Jimenez Gonzalez, Helena Kilpinen, Sabine M. Klauck, Alexander Kolevzon, Irene Lee, Jing Lei, Terho Lehtimäki, Chiao-Feng Lin, Avi Ma’ayan, Christian R. Marshall, Alison L. McInnes, Benjamin Neale, Michael J. Owen, Norio Ozaki, Mara Parellada, Jeremy R. Parr, Shaun Purcell, Kaija Puura, Deepthi Rajagopalan, Karola Rehnström, Abraham Reichenberg, Aniko Sabo, Michael Sachse, Stephan J. Sanders, Chad Schafer, Martin Schulte-Rüther, David Skuse, Christine Stevens, Peter Szatmari, Kristiina Tammimies, Otto Valladares, Annette Voran, Li-San Wang, Lauren A. Weiss, A. Jeremy Willsey, Timothy W. Yu, Ryan K. C. Yuen, Edwin H. Cook, Christine M. Freitag, Michael Gill, Christina M. Hultman, Thomas Lehner, Aarno Palotie, Gerard D. Schellenberg, Pamela Sklar, Matthew W. State, James S. Sutcliffe, Christopher A. Walsh, Stephen W. Scherer, Michael E. Zwick, Jeffrey C. Barrett, David J. Cutler, Kathryn Roeder, Bernie Devlin, Mark J. Daly, Joseph D. Buxbaum

Abstract

The genetic architecture of autism spectrum disorder involves the interplay of common and rare variants and their impact on hundreds of genes. Using exome sequencing, here we show that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate (FDR) < 0.05, plus a set of 107 autosomal genes strongly enriched for those likely to affect risk (FDR < 0.30). These 107 genes, which show unusual evolutionary constraint against mutations, incur de novo loss-of-function mutations in over 5% of autistic subjects. Many of the genes implicated encode proteins for synaptic formation, transcriptional regulation and chromatin-remodelling pathways. These include voltage-gated ion channels regulating the propagation of action potentials, pacemaking and excitability-transcription coupling, as well as histone-modifying enzymes and chromatin remodellers-most prominently those that mediate post-translational lysine methylation/demethylation modifications of histones.

X Demographics

X Demographics

The data shown below were collected from the profiles of 237 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 2,250 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 21 <1%
United Kingdom 7 <1%
Spain 6 <1%
Brazil 5 <1%
Germany 4 <1%
Netherlands 3 <1%
Italy 3 <1%
Portugal 3 <1%
France 2 <1%
Other 15 <1%
Unknown 2181 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 469 21%
Researcher 418 19%
Student > Master 240 11%
Student > Bachelor 239 11%
Student > Doctoral Student 103 5%
Other 401 18%
Unknown 380 17%
Readers by discipline Count As %
Agricultural and Biological Sciences 525 23%
Biochemistry, Genetics and Molecular Biology 396 18%
Neuroscience 366 16%
Medicine and Dentistry 212 9%
Psychology 102 5%
Other 213 9%
Unknown 436 19%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 400. 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
#75,858
of 25,576,275 outputs
Outputs from Nature
#5,613
of 98,250 outputs
Outputs of similar age
#607
of 274,828 outputs
Outputs of similar age from Nature
#68
of 1,089 outputs
Altmetric has tracked 25,576,275 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 98,250 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 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 274,828 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 1,089 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.