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Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract

Overview of attention for article published in BMC Medical Genomics, October 2013
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Title
Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract
Published in
BMC Medical Genomics, October 2013
DOI 10.1186/1471-2350-14-107
Pubmed ID
Authors

Xueyuan Jia, Feng Zhang, Jing Bai, Linghan Gao, Xuelong Zhang, Haiming Sun, Donglin Sun, Rongwei Guan, Wenjing Sun, Lidan Xu, Zhichao Yue, Yang Yu, Songbin Fu

Abstract

Congenital cataract is a Mendelian disorder that frequently causes blindness in infants. To date, various cataract-associated loci have been mapped; more than 30 genes have been identified by linkage analysis. However, the pathogenic loci in some affected families are still unknown, and new research strategies are needed. In this study, we used linkage-exome combinational analysis to further investigate the pedigree of a four-generation Chinese family with autosomal dominant coralliform cataract.

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X Demographics

The data shown below were collected from the profile of 1 X user 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 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 6%
Unknown 16 94%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 4 24%
Researcher 3 18%
Student > Bachelor 2 12%
Student > Ph. D. Student 2 12%
Student > Master 1 6%
Other 2 12%
Unknown 3 18%
Readers by discipline Count As %
Agricultural and Biological Sciences 6 35%
Biochemistry, Genetics and Molecular Biology 5 29%
Medicine and Dentistry 2 12%
Social Sciences 1 6%
Engineering 1 6%
Other 0 0%
Unknown 2 12%
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 11 October 2013.
All research outputs
#20,656,161
of 25,374,647 outputs
Outputs from BMC Medical Genomics
#1,682
of 2,444 outputs
Outputs of similar age
#168,267
of 222,692 outputs
Outputs of similar age from BMC Medical Genomics
#27
of 41 outputs
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So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 17th percentile – i.e., 17% of its peers scored the same or lower than it.
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