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Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

Overview of attention for article published in BMC Genomic Data, May 2007
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Title
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1
Published in
BMC Genomic Data, May 2007
DOI 10.1186/1471-2156-8-26
Pubmed ID
Authors

Wai-Man Chan, Caroline Andrews, Laryssa Dragan, Douglas Fredrick, Linlea Armstrong, Christopher Lyons, Michael T Geraghty, David G Hunter, Ahmad Yazdani, Elias I Traboulsi, Jan WR Pott, Nicholas J Gutowski, Sian Ellard, Elizabeth Young, Frank Hanisch, Feray Koc, Bruce Schnall, Elizabeth C Engle

Abstract

Congenital fibrosis of the extraocular muscles types 1 and 3 (CFEOM1/CFEOM3) are autosomal dominant strabismus disorders that appear to result from maldevelopment of ocular nuclei and nerves. We previously reported that most individuals with CFEOM1 and rare individuals with CFEOM3 harbor heterozygous mutations in KIF21A. KIF21A encodes a kinesin motor involved in anterograde axonal transport, and the familial and de novo mutations reported to date predictably alter one of only a few KIF21A amino acids--three within the third coiled-coil region of the stalk and one in the distal motor domain, suggesting they result in altered KIF21A function. To further define the spectrum of KIF21A mutations in CFEOM we have now identified all CFEOM probands newly enrolled in our study and determined if they harbor mutations in KIF21A.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 3%
Norway 1 3%
Unknown 28 93%

Demographic breakdown

Readers by professional status Count As %
Researcher 7 23%
Student > Ph. D. Student 6 20%
Other 5 17%
Student > Master 5 17%
Lecturer 1 3%
Other 3 10%
Unknown 3 10%
Readers by discipline Count As %
Agricultural and Biological Sciences 16 53%
Medicine and Dentistry 5 17%
Biochemistry, Genetics and Molecular Biology 4 13%
Physics and Astronomy 1 3%
Neuroscience 1 3%
Other 0 0%
Unknown 3 10%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 14 July 2018.
All research outputs
#8,535,472
of 25,374,647 outputs
Outputs from BMC Genomic Data
#316
of 1,204 outputs
Outputs of similar age
#30,028
of 84,362 outputs
Outputs of similar age from BMC Genomic Data
#4
of 9 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,204 research outputs from this source. They receive a mean Attention Score of 4.3. This one has gotten more attention than average, scoring higher than 65% 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 84,362 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 15th percentile – i.e., 15% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 9 others from the same source and published within six weeks on either side of this one. This one has scored higher than 5 of them.