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Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

Overview of attention for article published in BMC Medical Genomics, June 2014
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Mentioned by

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3 X users

Citations

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17 Dimensions

Readers on

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31 Mendeley
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Title
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
Published in
BMC Medical Genomics, June 2014
DOI 10.1186/1471-2350-15-71
Pubmed ID
Authors

Jens Schuster, Tahir Naeem Khan, Muhammad Tariq, Pakeeza Arzoo Shaiq, Katrin Mäbert, Shahid Mahmood Baig, Joakim Klar

Abstract

Exome sequencing has become more and more affordable and the technique has emerged as an important diagnostic tool for monogenic disorders at early stages of investigations, in particular when clinical information is limited or unspecific as well as in cases of genetic heterogeneity.

X Demographics

X Demographics

The data shown below were collected from the profiles of 3 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 31 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Israel 1 3%
Italy 1 3%
Unknown 29 94%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 5 16%
Professor > Associate Professor 4 13%
Student > Bachelor 3 10%
Other 3 10%
Researcher 3 10%
Other 7 23%
Unknown 6 19%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 9 29%
Medicine and Dentistry 8 26%
Agricultural and Biological Sciences 3 10%
Unspecified 1 3%
Psychology 1 3%
Other 1 3%
Unknown 8 26%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 03 October 2014.
All research outputs
#15,170,530
of 25,374,917 outputs
Outputs from BMC Medical Genomics
#978
of 2,444 outputs
Outputs of similar age
#123,653
of 243,034 outputs
Outputs of similar age from BMC Medical Genomics
#19
of 36 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 38th percentile – i.e., 38% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one has gotten more attention than average, scoring higher than 57% 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 243,034 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 36 others from the same source and published within six weeks on either side of this one. This one is in the 44th percentile – i.e., 44% of its contemporaries scored the same or lower than it.