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Strong Association of De Novo Copy Number Mutations with Autism

Overview of attention for article published in Science, April 2007
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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 (91st percentile)

Citations

dimensions_citation
2001 Dimensions

Readers on

mendeley
1087 Mendeley
citeulike
18 CiteULike
connotea
5 Connotea
Title
Strong Association of De Novo Copy Number Mutations with Autism
Published in
Science, April 2007
DOI 10.1126/science.1138659
Pubmed ID
Authors

J. Sebat, B. Lakshmi, D. Malhotra, J. Troge, C. Lese-Martin, T. Walsh, B. Yamrom, S. Yoon, A. Krasnitz, J. Kendall, A. Leotta, D. Pai, R. Zhang, Y.-H. Lee, J. Hicks, S. J. Spence, A. T. Lee, K. Puura, T. Lehtimaki, D. Ledbetter, P. K. Gregersen, J. Bregman, J. S. Sutcliffe, V. Jobanputra, W. Chung, D. Warburton, M.-C. King, D. Skuse, D. H. Geschwind, T. C. Gilliam, K. Ye, M. Wigler

Abstract

We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on the genomic DNA of patients and unaffected subjects to detect copy number variants not present in their respective parents. Candidate genomic regions were validated by higher-resolution CGH, paternity testing, cytogenetics, fluorescence in situ hybridization, and microsatellite genotyping. Confirmed de novo CNVs were significantly associated with autism (P = 0.0005). Such CNVs were identified in 12 out of 118 (10%) of patients with sporadic autism, in 2 out of 77 (3%) of patients with an affected first-degree relative, and in 2 out of 196 (1%) of controls. Most de novo CNVs were smaller than microscopic resolution. Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized.

Twitter Demographics

The data shown below were collected from the profiles of 8 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 1,087 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 31 3%
United Kingdom 10 <1%
Brazil 7 <1%
Canada 5 <1%
Netherlands 5 <1%
Australia 4 <1%
Germany 4 <1%
Italy 3 <1%
Ireland 2 <1%
Other 11 1%
Unknown 1005 92%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 261 24%
Researcher 220 20%
Student > Bachelor 115 11%
Student > Master 105 10%
Professor > Associate Professor 79 7%
Other 234 22%
Unknown 73 7%
Readers by discipline Count As %
Agricultural and Biological Sciences 410 38%
Biochemistry, Genetics and Molecular Biology 165 15%
Medicine and Dentistry 155 14%
Psychology 92 8%
Neuroscience 74 7%
Other 87 8%
Unknown 104 10%

Attention Score in Context

This research output has an Altmetric Attention Score of 122. 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 11 February 2020.
All research outputs
#151,468
of 14,999,430 outputs
Outputs from Science
#5,549
of 65,464 outputs
Outputs of similar age
#146,252
of 14,122,182 outputs
Outputs of similar age from Science
#5,544
of 65,362 outputs
Altmetric has tracked 14,999,430 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 65,464 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 48.5. This one has done particularly well, scoring higher than 91% 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 14,122,182 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 65,362 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 91% of its contemporaries.