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Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology

Overview of attention for article published in BMC Medical Genetics, August 2013
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Title
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology
Published in
BMC Medical Genetics, August 2013
DOI 10.1186/1471-2350-14-83
Pubmed ID
Authors

William J Craigen, Brett H Graham, Lee-Jun Wong, Fernando Scaglia, Richard Alan Lewis, Penelope E Bonnen

Abstract

The clinical features of mitochondrial disease are complex and highly variable, leading to challenges in establishing a specific diagnosis. Despite being one of the most commonly occurring inherited genetic diseases with an incidence of 1/5000, ~90% of these complex patients remain without a DNA-based diagnosis. We report our efforts to identify the pathogenetic cause for a patient with typical features of mitochondrial disease including infantile cataracts, CPEO, ptosis, progressive distal muscle weakness, and ataxia who carried a diagnosis of mitochondrial disease for over a decade.

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 31 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 3%
Colombia 1 3%
United States 1 3%
Unknown 28 90%

Demographic breakdown

Readers by professional status Count As %
Researcher 6 19%
Other 3 10%
Student > Postgraduate 3 10%
Professor 3 10%
Student > Bachelor 2 6%
Other 9 29%
Unknown 5 16%
Readers by discipline Count As %
Agricultural and Biological Sciences 10 32%
Medicine and Dentistry 9 29%
Biochemistry, Genetics and Molecular Biology 2 6%
Arts and Humanities 2 6%
Unspecified 1 3%
Other 0 0%
Unknown 7 23%

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 19 August 2013.
All research outputs
#2,906,746
of 3,627,150 outputs
Outputs from BMC Medical Genetics
#246
of 321 outputs
Outputs of similar age
#69,951
of 87,717 outputs
Outputs of similar age from BMC Medical Genetics
#10
of 14 outputs
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So far Altmetric has tracked 321 research outputs from this source. They receive a mean Attention Score of 2.5. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 14 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.