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Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

Overview of attention for article published in Genome Medicine, January 2013
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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 (91st percentile)
  • Above-average Attention Score compared to outputs of the same age and source (59th percentile)

Mentioned by

twitter
21 tweeters
wikipedia
2 Wikipedia pages

Citations

dimensions_citation
79 Dimensions

Readers on

mendeley
83 Mendeley
citeulike
3 CiteULike
Summary Twitter Wikipedia Dimensions citations
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Title
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
Published in
Genome Medicine, January 2013
DOI 10.1186/gm471
Pubmed ID
23889995
Authors

Kai Wang, Cecilia Kim, Jonathan Bradfield, Yunfei Guo, Elina Toskala, Frederick G Otieno, Cuiping Hou, Kelly Thomas, Christopher Cardinale, Gholson J Lyon, Ryan Golhar, Hakon Hakonarson

Abstract

Whole-exome sequencing has identified the causes of several Mendelian diseases by analyzing multiple unrelated cases, but it is more challenging to resolve the cause of extremely rare and suspected Mendelian diseases from individual families. We identified a family quartet with two children, both affected with a previously unreported disease, characterized by progressive muscular weakness and cardiomyopathy, with normal intelligence. During the course of the study, we identified one additional unrelated patient with a comparable phenotype.

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Twitter Demographics

The data shown below were collected from the profiles of 21 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 83 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 1%
United States 1 1%
Italy 1 1%
Unknown 80 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 20 24%
Student > Ph. D. Student 16 19%
Student > Bachelor 7 8%
Other 6 7%
Student > Master 6 7%
Other 11 13%
Unknown 17 20%
Readers by discipline Count As %
Agricultural and Biological Sciences 24 29%
Biochemistry, Genetics and Molecular Biology 18 22%
Medicine and Dentistry 18 22%
Neuroscience 2 2%
Immunology and Microbiology 1 1%
Other 2 2%
Unknown 18 22%

Attention Score in Context

This research output has an Altmetric Attention Score of 14. 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 14 July 2018.
All research outputs
#2,189,353
of 22,715,151 outputs
Outputs from Genome Medicine
#500
of 1,435 outputs
Outputs of similar age
#22,931
of 280,752 outputs
Outputs of similar age from Genome Medicine
#25
of 62 outputs
Altmetric has tracked 22,715,151 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 90th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,435 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 25.6. This one has gotten more attention than average, scoring higher than 65% 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 280,752 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 91% of its contemporaries.
We're also able to compare this research output to 62 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 59% of its contemporaries.

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