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New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome

Overview of attention for article published in BMC Genomic Data, June 2014
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Title
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome
Published in
BMC Genomic Data, June 2014
DOI 10.1186/1471-2156-15-74
Pubmed ID
Authors

Ren-Qiang Yang, Javad Jabbari, Xiao-Shu Cheng, Reza Jabbari, Jonas B Nielsen, Bjarke Risgaard, Xu Chen, Ahmad Sajadieh, Stig Haunsø, Jesper Hastrup Svendsen, Morten S Olesen, Jacob Tfelt-Hansen

Abstract

Marfan syndrome (MFS) is a rare autosomal dominantly inherited connective tissue disorder with an estimated prevalence of 1:5,000. More than 1000 variants have been previously reported to be associated with MFS. However, the disease-causing effect of these variants may be questionable as many of the original studies used low number of controls. To study whether there are possible false-positive variants associated with MFS, four in silico prediction tools (SIFT, Polyphen-2, Grantham score, and conservation across species) were used to predict the pathogenicity of these variant.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Netherlands 1 3%
France 1 3%
Unknown 31 94%

Demographic breakdown

Readers by professional status Count As %
Researcher 7 21%
Student > Ph. D. Student 6 18%
Other 5 15%
Student > Bachelor 3 9%
Student > Master 3 9%
Other 3 9%
Unknown 6 18%
Readers by discipline Count As %
Medicine and Dentistry 11 33%
Agricultural and Biological Sciences 7 21%
Biochemistry, Genetics and Molecular Biology 5 15%
Computer Science 1 3%
Chemistry 1 3%
Other 0 0%
Unknown 8 24%
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 07 December 2014.
All research outputs
#22,759,452
of 25,374,647 outputs
Outputs from BMC Genomic Data
#1,008
of 1,204 outputs
Outputs of similar age
#208,946
of 242,959 outputs
Outputs of similar age from BMC Genomic Data
#22
of 28 outputs
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So far Altmetric has tracked 1,204 research outputs from this source. They receive a mean Attention Score of 4.3. 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 28 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.