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Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Overview of attention for article published in Orphanet Journal of Rare Diseases, September 2012
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (76th percentile)
  • Good Attention Score compared to outputs of the same age and source (73rd percentile)

Mentioned by

twitter
3 tweeters
wikipedia
1 Wikipedia page

Citations

dimensions_citation
57 Dimensions

Readers on

mendeley
61 Mendeley
citeulike
1 CiteULike
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Title
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
Published in
Orphanet Journal of Rare Diseases, September 2012
DOI 10.1186/1750-1172-7-59
Pubmed ID
Authors

Tobias Eisenberger, Rima Slim, Ahmad Mansour, Markus Nauck, Gudrun Nürnberg, Peter Nürnberg, Christian Decker, Claudia Dafinger, Inga Ebermann, Carsten Bergmann, Hanno Jörn Bolz

Abstract

Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3). Our study was aimed at the identification of the causative mutation in this USH3-like family.

Twitter Demographics

The data shown below were collected from the profiles of 3 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 61 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
South Africa 1 2%
Unknown 60 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 16 26%
Student > Ph. D. Student 15 25%
Student > Master 5 8%
Other 4 7%
Professor > Associate Professor 4 7%
Other 10 16%
Unknown 7 11%
Readers by discipline Count As %
Agricultural and Biological Sciences 19 31%
Biochemistry, Genetics and Molecular Biology 14 23%
Medicine and Dentistry 5 8%
Neuroscience 4 7%
Nursing and Health Professions 3 5%
Other 5 8%
Unknown 11 18%

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 November 2018.
All research outputs
#3,457,735
of 13,727,890 outputs
Outputs from Orphanet Journal of Rare Diseases
#424
of 1,505 outputs
Outputs of similar age
#29,527
of 127,613 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#7
of 30 outputs
Altmetric has tracked 13,727,890 research outputs across all sources so far. This one has received more attention than most of these and is in the 74th percentile.
So far Altmetric has tracked 1,505 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.1. This one has gotten more attention than average, scoring higher than 71% 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 127,613 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 76% of its contemporaries.
We're also able to compare this research output to 30 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 73% of its contemporaries.