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Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum

Overview of attention for article published in Journal of Investigative Dermatology, September 2014
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (89th percentile)
  • High Attention Score compared to outputs of the same age and source (85th percentile)

Mentioned by

news
1 news outlet
policy
1 policy source
twitter
3 X users
facebook
2 Facebook pages

Citations

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26 Dimensions

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48 Mendeley
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Title
Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum
Published in
Journal of Investigative Dermatology, September 2014
DOI 10.1038/jid.2014.421
Pubmed ID
Authors

Mohammad J. Hosen, Filip Van Nieuwerburgh, Wouter Steyaert, Dieter Deforce, Ludovic Martin, Georges Leftheriotis, Anne De Paepe, Paul J. Coucke, Olivier M. Vanakker

Abstract

The molecular etiology of pseudoxanthoma elasticum (PXE), an autosomal recessive connective tissue disorder, has become increasingly complex as not only mutations in ABCC6 but also ENPP1 and GGCX can cause resembling phenotypes. Identification of modifier genes, such as VEGFA, has further contributed to the molecular heterogeneity of PXE. In such heterogeneous diseases, Next Generation Sequencing allows to perform mutation screening of several genes in a single reaction. We explored whole exome sequencing (WES) as an efficient diagnostic tool to identify the causal mutations in ABCC6, GGCX, ENPP1 and VKORC1, in 16 PXE patients. WES identified a causal ABCC6 mutation in 30 out of 32 alleles and one GGCX mutation, whereas no causal mutations in ENPP1 or VKORC1 were detected. Exomes with insufficient reads (≤20 depth) for the 4 genes and patients with single mutations were further evaluated by Sanger sequencing (SS) but no additional mutations were found. The potential of WES compared to targeted NGS, is the ease to examine target genes and the opportunity to search for novel genes when targeted analysis is negative. Together with low cost, rapid and less laborious workflow, we conclude that WES complemented with SS can provide a tiered approach to molecular diagnostics of PXE.Journal of Investigative Dermatology accepted article preview online, 29 September 2014; doi:10.1038/jid.2014.421.

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

Geographical breakdown

Country Count As %
Brazil 1 2%
Unknown 47 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 12 25%
Student > Bachelor 6 13%
Student > Ph. D. Student 5 10%
Professor > Associate Professor 4 8%
Student > Doctoral Student 3 6%
Other 10 21%
Unknown 8 17%
Readers by discipline Count As %
Medicine and Dentistry 16 33%
Biochemistry, Genetics and Molecular Biology 10 21%
Pharmacology, Toxicology and Pharmaceutical Science 2 4%
Engineering 2 4%
Agricultural and Biological Sciences 1 2%
Other 2 4%
Unknown 15 31%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 14. 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 22 October 2019.
All research outputs
#2,542,537
of 25,371,288 outputs
Outputs from Journal of Investigative Dermatology
#635
of 8,994 outputs
Outputs of similar age
#27,522
of 264,227 outputs
Outputs of similar age from Journal of Investigative Dermatology
#15
of 106 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. Compared to these this one has done well and is in the 89th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 8,994 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.4. This one has done particularly well, scoring higher than 92% 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 264,227 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 89% of its contemporaries.
We're also able to compare this research output to 106 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 85% of its contemporaries.