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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

Overview of attention for article published in Orphanet Journal of Rare Diseases, July 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 (92nd percentile)
  • High Attention Score compared to outputs of the same age and source (97th percentile)

Mentioned by

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2 news outlets
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1 X user
facebook
1 Facebook page

Citations

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49 Dimensions

Readers on

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49 Mendeley
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Title
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
Published in
Orphanet Journal of Rare Diseases, July 2013
DOI 10.1186/1750-1172-8-110
Pubmed ID
Authors

Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert, Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König, Alma Kuechler, Carlo Marcelis, Maria Puiu, Willie Reardon, Hilde Monica Frostad Riise Stensland, Bernd Schweiger, Marloes Steehouwer, Christopher Teller, Marcel Martin, Sven Rahmann, Ute Hehr, Han G Brunner, Hermann-Josef Lüdecke, Dagmar Wieczorek

Abstract

Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as well. We set forth to find further conditions caused by mutations in the EFTUD2 gene (OMIM *603892).

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 49 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 2%
United States 1 2%
Unknown 47 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 7 14%
Student > Master 5 10%
Other 4 8%
Researcher 4 8%
Professor 3 6%
Other 11 22%
Unknown 15 31%
Readers by discipline Count As %
Medicine and Dentistry 16 33%
Biochemistry, Genetics and Molecular Biology 7 14%
Agricultural and Biological Sciences 6 12%
Nursing and Health Professions 2 4%
Psychology 1 2%
Other 1 2%
Unknown 16 33%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 20. 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 19 May 2022.
All research outputs
#1,563,495
of 22,714,025 outputs
Outputs from Orphanet Journal of Rare Diseases
#155
of 2,603 outputs
Outputs of similar age
#14,454
of 197,947 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#1
of 34 outputs
Altmetric has tracked 22,714,025 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,603 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one has done particularly well, scoring higher than 94% 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 197,947 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 34 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 97% of its contemporaries.