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A de novo paradigm for mental retardation

Overview of attention for article published in Nature Genetics, November 2010
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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 (81st percentile)
  • Above-average Attention Score compared to outputs of the same age and source (51st percentile)

Mentioned by

twitter
6 tweeters
patent
3 patents
f1000
1 research highlight platform

Citations

dimensions_citation
603 Dimensions

Readers on

mendeley
660 Mendeley
citeulike
9 CiteULike
connotea
1 Connotea
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Title
A de novo paradigm for mental retardation
Published in
Nature Genetics, November 2010
DOI 10.1038/ng.712
Pubmed ID
Authors

Lisenka E L M Vissers, Joep de Ligt, Christian Gilissen, Irene Janssen, Marloes Steehouwer, Petra de Vries, Bart van Lier, Peer Arts, Nienke Wieskamp, Marisol del Rosario, Bregje W M van Bon, Alexander Hoischen, Bert B A de Vries, Han G Brunner, Joris A Veltman

Abstract

The per-generation mutation rate in humans is high. De novo mutations may compensate for allele loss due to severely reduced fecundity in common neurodevelopmental and psychiatric diseases, explaining a major paradox in evolutionary genetic theory. Here we used a family based exome sequencing approach to test this de novo mutation hypothesis in ten individuals with unexplained mental retardation. We identified and validated unique non-synonymous de novo mutations in nine genes. Six of these, identified in six different individuals, are likely to be pathogenic based on gene function, evolutionary conservation and mutation impact. Our findings provide strong experimental support for a de novo paradigm for mental retardation. Together with de novo copy number variation, de novo point mutations of large effect could explain the majority of all mental retardation cases in the population.

Twitter Demographics

The data shown below were collected from the profiles of 6 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 660 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 12 2%
United States 12 2%
Netherlands 6 <1%
Belgium 5 <1%
Italy 4 <1%
Brazil 4 <1%
Germany 3 <1%
Canada 3 <1%
France 2 <1%
Other 9 1%
Unknown 600 91%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 170 26%
Researcher 142 22%
Student > Master 74 11%
Student > Bachelor 47 7%
Professor 40 6%
Other 139 21%
Unknown 48 7%
Readers by discipline Count As %
Agricultural and Biological Sciences 279 42%
Medicine and Dentistry 120 18%
Biochemistry, Genetics and Molecular Biology 110 17%
Neuroscience 29 4%
Psychology 16 2%
Other 42 6%
Unknown 64 10%

Attention Score in Context

This research output has an Altmetric Attention Score of 8. 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 10 March 2020.
All research outputs
#2,923,498
of 16,810,341 outputs
Outputs from Nature Genetics
#3,390
of 6,558 outputs
Outputs of similar age
#13,699
of 75,893 outputs
Outputs of similar age from Nature Genetics
#24
of 47 outputs
Altmetric has tracked 16,810,341 research outputs across all sources so far. Compared to these this one has done well and is in the 82nd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 6,558 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 35.1. This one is in the 48th percentile – i.e., 48% of its peers scored the same or lower than it.
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 75,893 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 81% of its contemporaries.
We're also able to compare this research output to 47 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 51% of its contemporaries.