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Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

Overview of attention for article published in BMJ Open, March 2013
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Mentioned by

peer_reviews
1 peer review site

Citations

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46 Dimensions

Readers on

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42 Mendeley
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Title
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics
Published in
BMJ Open, March 2013
DOI 10.1136/bmjopen-2012-001917
Pubmed ID
Authors

Gabriele Wildhardt, Birgit Zirn, Luitgard M Graul-Neumann, Juliane Wechtenbruch, Markus Suckfüll, Annegret Buske, Axel Bohring, Christian Kubisch, Stefanie Vogt, Gertrud Strobl-Wildemann, Marie Greally, Oliver Bartsch, Daniela Steinberger

Abstract

Till date, mutations in the genes PAX3 and MITF have been described in Waardenburg syndrome (WS), which is clinically characterised by congenital hearing loss and pigmentation anomalies. Our study intended to determine the frequency of mutations and deletions in these genes, to assess the clinical phenotype in detail and to identify rational priorities for molecular genetic diagnostics procedures.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 42 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
France 1 2%
Unknown 41 98%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 6 14%
Professor > Associate Professor 5 12%
Student > Master 5 12%
Student > Ph. D. Student 4 10%
Student > Doctoral Student 2 5%
Other 10 24%
Unknown 10 24%
Readers by discipline Count As %
Medicine and Dentistry 13 31%
Agricultural and Biological Sciences 8 19%
Biochemistry, Genetics and Molecular Biology 7 17%
Nursing and Health Professions 1 2%
Linguistics 1 2%
Other 1 2%
Unknown 11 26%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 06 February 2013.
All research outputs
#17,283,763
of 25,371,288 outputs
Outputs from BMJ Open
#19,079
of 25,582 outputs
Outputs of similar age
#143,192
of 222,533 outputs
Outputs of similar age from BMJ Open
#195
of 240 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 25,582 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 18.2. This one is in the 17th percentile – i.e., 17% 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 222,533 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 26th percentile – i.e., 26% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 240 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.