↓ Skip to main content

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, January 2013
Altmetric Badge

About this Attention Score

  • Average Attention Score compared to outputs of the same age
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

twitter
2 tweeters
facebook
1 Facebook page

Citations

dimensions_citation
32 Dimensions

Readers on

mendeley
33 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
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, January 2013
DOI 10.1186/1750-1172-8-110
Pubmed ID
Authors

Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna 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 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).

Twitter Demographics

The data shown below were collected from the profiles of 2 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 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 3%
United States 1 3%
Poland 1 3%
Unknown 30 91%

Demographic breakdown

Readers by professional status Count As %
Student > Master 6 18%
Researcher 4 12%
Student > Ph. D. Student 4 12%
Professor 3 9%
Professor > Associate Professor 3 9%
Other 9 27%
Unknown 4 12%
Readers by discipline Count As %
Medicine and Dentistry 11 33%
Biochemistry, Genetics and Molecular Biology 6 18%
Agricultural and Biological Sciences 6 18%
Nursing and Health Professions 2 6%
Unspecified 1 3%
Other 2 6%
Unknown 5 15%

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 14 December 2017.
All research outputs
#8,307,558
of 13,785,324 outputs
Outputs from Orphanet Journal of Rare Diseases
#993
of 1,510 outputs
Outputs of similar age
#78,293
of 155,975 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#29
of 45 outputs
Altmetric has tracked 13,785,324 research outputs across all sources so far. This one is in the 37th percentile – i.e., 37% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,510 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.2. This one is in the 30th percentile – i.e., 30% of its peers scored the same or lower than it.
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 155,975 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 45 others from the same source and published within six weeks on either side of this one. This one is in the 31st percentile – i.e., 31% of its contemporaries scored the same or lower than it.