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Exome sequencing identified new mutations in a Marfan syndrome family

Overview of attention for article published in Diagnostic Pathology, January 2014
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  • High Attention Score compared to outputs of the same age and source (89th percentile)

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8 X users

Citations

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12 Dimensions

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29 Mendeley
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1 CiteULike
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Title
Exome sequencing identified new mutations in a Marfan syndrome family
Published in
Diagnostic Pathology, January 2014
DOI 10.1186/1746-1596-9-25
Pubmed ID
Authors

Guangxin Li, Jian Yu, Kun Wang, Bin Wang, Minghai Wang, Shuguang Zhang, Shiyong Qin, Zhenhai Yu

Abstract

Marfan syndrome is a common autosomal dominant hereditary connective tissue disorder. There is no cure for Marfan syndrome currently. Next-generation sequencing (NGS) technology is efficient to identify genetic lesions at the exome level. Here we carried out exome sequencing of two Marfan syndrome patients. Further Sanger sequencing validation in other five members from the same family was also implemented to confirm new variants which may contribute to the pathogenesis of the disease. Two new variants, including one nonsense SNP in the Marfan syndrome gene FBN1 and one missense mutation in exon 15 of LRP1, which may be related to the phenotype of the patients were identified. The exome sequencing analysis provides us a new insight into the molecular events governing pathogenesis of Marfan syndrome.

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X Demographics

The data shown below were collected from the profiles of 8 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 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 29 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 7 24%
Other 4 14%
Student > Bachelor 2 7%
Professor 2 7%
Student > Doctoral Student 2 7%
Other 5 17%
Unknown 7 24%
Readers by discipline Count As %
Medicine and Dentistry 10 34%
Biochemistry, Genetics and Molecular Biology 4 14%
Agricultural and Biological Sciences 4 14%
Computer Science 2 7%
Mathematics 1 3%
Other 1 3%
Unknown 7 24%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 March 2014.
All research outputs
#6,190,117
of 22,741,406 outputs
Outputs from Diagnostic Pathology
#156
of 1,122 outputs
Outputs of similar age
#73,794
of 306,968 outputs
Outputs of similar age from Diagnostic Pathology
#5
of 46 outputs
Altmetric has tracked 22,741,406 research outputs across all sources so far. This one has received more attention than most of these and is in the 72nd percentile.
So far Altmetric has tracked 1,122 research outputs from this source. They receive a mean Attention Score of 2.8. This one has done well, scoring higher than 86% 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 306,968 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 75% of its contemporaries.
We're also able to compare this research output to 46 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 89% of its contemporaries.