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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Overview of attention for article published in Nature Genetics, May 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 (92nd percentile)
  • Good Attention Score compared to outputs of the same age and source (66th percentile)

Mentioned by

blogs
1 blog
twitter
10 tweeters
f1000
1 research highlight platform

Citations

dimensions_citation
362 Dimensions

Readers on

mendeley
342 Mendeley
citeulike
5 CiteULike
connotea
2 Connotea
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Title
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
Published in
Nature Genetics, May 2010
DOI 10.1038/ng.581
Pubmed ID
Authors

Alexander Hoischen, Bregje W M van Bon, Christian Gilissen, Peer Arts, Bart van Lier, Marloes Steehouwer, Petra de Vries, Rick de Reuver, Nienke Wieskamp, Geert Mortier, Koen Devriendt, Marta Z Amorim, Nicole Revencu, Alexa Kidd, Mafalda Barbosa, Anne Turner, Janine Smith, Christina Oley, Alex Henderson, Ian M Hayes, Elizabeth M Thompson, Han G Brunner, Bert B A de Vries, Joris A Veltman

Abstract

Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected individuals die before the age of ten. We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four. We also identified SETBP1 mutations in eight additional cases using Sanger sequencing. All mutations clustered to a highly conserved 11-bp exonic region, suggesting a dominant-negative or gain-of-function effect.

Twitter Demographics

The data shown below were collected from the profiles of 10 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 342 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 10 3%
United States 5 1%
Germany 3 <1%
Netherlands 3 <1%
Belgium 3 <1%
Korea, Republic of 1 <1%
France 1 <1%
Canada 1 <1%
Italy 1 <1%
Other 2 <1%
Unknown 312 91%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 83 24%
Researcher 81 24%
Student > Master 42 12%
Student > Bachelor 30 9%
Professor > Associate Professor 19 6%
Other 70 20%
Unknown 17 5%
Readers by discipline Count As %
Agricultural and Biological Sciences 140 41%
Medicine and Dentistry 79 23%
Biochemistry, Genetics and Molecular Biology 58 17%
Computer Science 12 4%
Neuroscience 9 3%
Other 15 4%
Unknown 29 8%

Attention Score in Context

This research output has an Altmetric Attention Score of 16. 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 22 March 2021.
All research outputs
#1,468,429
of 17,499,602 outputs
Outputs from Nature Genetics
#2,220
of 6,662 outputs
Outputs of similar age
#8,458
of 109,967 outputs
Outputs of similar age from Nature Genetics
#28
of 81 outputs
Altmetric has tracked 17,499,602 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 6,662 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 35.6. This one has gotten more attention than average, scoring higher than 66% 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 109,967 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 92% of its contemporaries.
We're also able to compare this research output to 81 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 66% of its contemporaries.