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Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

Overview of attention for article published in BMC Medical Genomics, May 2014
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (67th percentile)
  • Good Attention Score compared to outputs of the same age and source (74th percentile)

Mentioned by

twitter
1 X user
wikipedia
1 Wikipedia page

Citations

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36 Dimensions

Readers on

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54 Mendeley
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Title
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
Published in
BMC Medical Genomics, May 2014
DOI 10.1186/1471-2350-15-51
Pubmed ID
Authors

Clea Bárcena, Víctor Quesada, Annachiara De Sandre-Giovannoli, Diana A Puente, Joaquín Fernández-Toral, Sabine Sigaudy, Anwar Baban, Nicolas Lévy, Gloria Velasco, Carlos López-Otín

Abstract

SHORT syndrome is a rare autosomal dominant condition whose name is the acronym of short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay (MIM 269880). Additionally, the patients usually present a low birth weight and height, lipodystrophy, delayed bone age, hernias, low body mass index and a progeroid appearance.

X Demographics

X Demographics

The data shown below were collected from the profile of 1 X user 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 54 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 2%
Spain 1 2%
China 1 2%
Germany 1 2%
Unknown 50 93%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 12 22%
Researcher 7 13%
Professor 4 7%
Student > Doctoral Student 4 7%
Other 4 7%
Other 14 26%
Unknown 9 17%
Readers by discipline Count As %
Medicine and Dentistry 16 30%
Biochemistry, Genetics and Molecular Biology 14 26%
Agricultural and Biological Sciences 6 11%
Computer Science 1 2%
Nursing and Health Professions 1 2%
Other 2 4%
Unknown 14 26%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 31 October 2023.
All research outputs
#8,261,140
of 25,371,288 outputs
Outputs from BMC Medical Genomics
#605
of 2,444 outputs
Outputs of similar age
#76,868
of 242,211 outputs
Outputs of similar age from BMC Medical Genomics
#9
of 35 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. This one has received more attention than most of these and is in the 66th percentile.
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 74% 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 242,211 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 67% of its contemporaries.
We're also able to compare this research output to 35 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 74% of its contemporaries.