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Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts

Overview of attention for article published in BMC Medical Genomics, August 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 (85th percentile)
  • High Attention Score compared to outputs of the same age and source (92nd percentile)

Mentioned by

blogs
1 blog
twitter
2 X users

Readers on

mendeley
39 Mendeley
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1 CiteULike
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Title
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts
Published in
BMC Medical Genomics, August 2013
DOI 10.1186/1471-2350-14-85
Pubmed ID
Authors

Priya Landa, Ann-Marie Differ, Kaukab Rajput, Lucy Jenkins, Maria Bitner-Glindzicz

Abstract

Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia. Hearing impairment and EVA may occur in the absence of goitre or thyroid dyshormonogensis in a condition known as non-syndromic EVA. A significant number of patients with Pendred syndrome and non-syndromic EVA show only one mutation in SLC26A4. Two genes, KCNJ10, encoding an inwardly rectifying potassium channel and FOXI1, a transcriptional factor gene, are thought to play a role in the disease phenotypes.

X Demographics

X Demographics

The data shown below were collected from the profiles of 2 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 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 39 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 8 21%
Unspecified 5 13%
Student > Master 4 10%
Professor 3 8%
Other 3 8%
Other 9 23%
Unknown 7 18%
Readers by discipline Count As %
Medicine and Dentistry 10 26%
Agricultural and Biological Sciences 7 18%
Biochemistry, Genetics and Molecular Biology 5 13%
Unspecified 5 13%
Mathematics 1 3%
Other 3 8%
Unknown 8 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 10. 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 26 November 2013.
All research outputs
#3,696,320
of 25,373,627 outputs
Outputs from BMC Medical Genomics
#235
of 2,444 outputs
Outputs of similar age
#31,068
of 210,379 outputs
Outputs of similar age from BMC Medical Genomics
#2
of 27 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. Compared to these this one has done well and is in the 85th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one has done particularly well, scoring higher than 90% 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 210,379 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 85% of its contemporaries.
We're also able to compare this research output to 27 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 92% of its contemporaries.