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Whole exome sequencing identifies a novel EMDmutation in a Chinese family with dilated cardiomyopathy

Overview of attention for article published in BMC Medical Genetics, July 2014
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (69th percentile)

Mentioned by

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1 tweeter
patent
1 patent

Citations

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24 Dimensions

Readers on

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27 Mendeley
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Title
Whole exome sequencing identifies a novel EMDmutation in a Chinese family with dilated cardiomyopathy
Published in
BMC Medical Genetics, July 2014
DOI 10.1186/1471-2350-15-77
Pubmed ID
Authors

Mingqiu Zhang, Jia Chen, Dayong Si, Yu Zheng, Haixu Jiao, Zhaohui Feng, Zhengmao Hu, Ranhui Duan

Abstract

Variants in the emerin gene (EMD) were implicated in X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD), characterized by early-onset contractures of tendons, progressive muscular weakness and cardiomyopathy. To date, 223 mutations have been reported in EMD gene and the majority of them caused a predominant skeletal muscular phenotype. In this study, we identified a novel deletion mutation in EMD exon 1, which results in almost a complete loss of emerin protein in a large Chinese family. However, the patients suffered severe dilated cardiomyopathy (DCM) but very mild skeletal muscle disorder.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter 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 27 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 27 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 7 26%
Student > Bachelor 4 15%
Student > Master 4 15%
Student > Ph. D. Student 4 15%
Professor > Associate Professor 3 11%
Other 3 11%
Unknown 2 7%
Readers by discipline Count As %
Medicine and Dentistry 11 41%
Biochemistry, Genetics and Molecular Biology 4 15%
Agricultural and Biological Sciences 4 15%
Nursing and Health Professions 2 7%
Psychology 1 4%
Other 2 7%
Unknown 3 11%

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 12 September 2016.
All research outputs
#5,512,457
of 17,600,468 outputs
Outputs from BMC Medical Genetics
#163
of 966 outputs
Outputs of similar age
#58,072
of 195,352 outputs
Outputs of similar age from BMC Medical Genetics
#1
of 1 outputs
Altmetric has tracked 17,600,468 research outputs across all sources so far. This one has received more attention than most of these and is in the 68th percentile.
So far Altmetric has tracked 966 research outputs from this source. They receive a mean Attention Score of 3.6. This one has done well, scoring higher than 82% 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 195,352 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 69% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them