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A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

Overview of attention for article published in BMC Medical Genomics, July 2014
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Mentioned by

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3 X users

Citations

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62 Dimensions

Readers on

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73 Mendeley
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Title
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2
Published in
BMC Medical Genomics, July 2014
DOI 10.1186/1471-2350-15-88
Pubmed ID
Authors

Enza Mozzillo, Maurizio Delvecchio, Massimo Carella, Elvira Grandone, Pietro Palumbo, Alessandro Salina, Concetta Aloi, Pietro Buono, Antonella Izzo, Giuseppe D’Annunzio, Gennaro Vecchione, Ada Orrico, Rita Genesio, Francesca Simonelli, Adriana Franzese

Abstract

Wolfram Syndrome type 2 (WFS2) is considered a phenotypic and genotypic variant of WFS, whose minimal criteria for diagnosis are diabetes mellitus and optic atrophy. The disease gene for WFS2 is CISD2. The clinical phenotype of WFS2 differs from WFS1 for the absence of diabetes insipidus and psychiatric disorders, and for the presence of bleeding upper intestinal ulcers and defective platelet aggregation. After the first report of consanguineous Jordanian patients, no further cases of WFS2 have been reported worldwide. We describe the first Caucasian patient affected by WFS2.

X Demographics

X Demographics

The data shown below were collected from the profiles of 3 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 73 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 1%
Italy 1 1%
Unknown 71 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 12 16%
Student > Master 12 16%
Student > Ph. D. Student 11 15%
Student > Bachelor 10 14%
Student > Postgraduate 5 7%
Other 10 14%
Unknown 13 18%
Readers by discipline Count As %
Medicine and Dentistry 17 23%
Biochemistry, Genetics and Molecular Biology 16 22%
Agricultural and Biological Sciences 9 12%
Nursing and Health Professions 4 5%
Immunology and Microbiology 4 5%
Other 9 12%
Unknown 14 19%
Attention Score in Context

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 24 July 2014.
All research outputs
#16,722,913
of 25,374,917 outputs
Outputs from BMC Medical Genomics
#1,194
of 2,444 outputs
Outputs of similar age
#136,518
of 240,094 outputs
Outputs of similar age from BMC Medical Genomics
#18
of 30 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 32nd percentile – i.e., 32% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 46th percentile – i.e., 46% 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 240,094 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 40th percentile – i.e., 40% of its contemporaries scored the same or lower than it.
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 is in the 33rd percentile – i.e., 33% of its contemporaries scored the same or lower than it.