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Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report

Overview of attention for article published in BMC Research Notes, July 2014
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Title
Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report
Published in
BMC Research Notes, July 2014
DOI 10.1186/1756-0500-7-465
Pubmed ID
Authors

Keiko Shimojima, Aya Narita, Yoshihiro Maegaki, Akira Saito, Toru Furukawa, Toshiyuki Yamamoto

Abstract

Owing to the number of genetic mutations that contribute to malformations of cortical development, identification of causative mutations in candidate genes is challenging. To overcome these challenges, we performed whole-exome sequencing in this study.

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

Geographical breakdown

Country Count As %
Unknown 35 100%

Demographic breakdown

Readers by professional status Count As %
Student > Doctoral Student 8 23%
Other 5 14%
Researcher 4 11%
Student > Bachelor 3 9%
Professor 3 9%
Other 8 23%
Unknown 4 11%
Readers by discipline Count As %
Medicine and Dentistry 15 43%
Biochemistry, Genetics and Molecular Biology 5 14%
Arts and Humanities 3 9%
Agricultural and Biological Sciences 2 6%
Mathematics 1 3%
Other 3 9%
Unknown 6 17%
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 24 July 2014.
All research outputs
#20,233,066
of 22,758,963 outputs
Outputs from BMC Research Notes
#3,559
of 4,262 outputs
Outputs of similar age
#192,437
of 228,546 outputs
Outputs of similar age from BMC Research Notes
#104
of 125 outputs
Altmetric has tracked 22,758,963 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 4,262 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.5. 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 125 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.