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Mutations inSPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Overview of attention for article published in Journal of Medical Genetics, November 2014
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Mentioned by

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2 tweeters

Citations

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26 Dimensions

Readers on

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39 Mendeley
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Title
Mutations inSPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
Published in
Journal of Medical Genetics, November 2014
DOI 10.1136/jmedgenet-2014-102677
Pubmed ID
Authors

Paul Kruszka, Dong Li, Margaret H Harr, Nathan R Wilson, Daniel Swarr, Elizabeth M McCormick, Rosetta M Chiavacci, Mindy Li, Ariel F Martinez, Rachel A Hart, Donna M McDonald-McGinn, Matthew A Deardorff, Marni J Falk, Judith E Allanson, Cindy Hudson, John P Johnson, Irfan Saadi, Hakon Hakonarson, Maximilian Muenke, Elaine H Zackai

Abstract

Opitz G/BBB syndrome is a heterogeneous disorder characterised by variable expression of midline defects including cleft lip and palate, hypertelorism, laryngealtracheoesophageal anomalies, congenital heart defects, and hypospadias. The X-linked form of the condition has been associated with mutations in the MID1 gene on Xp22. The autosomal dominant form has been linked to chromosome 22q11.2, although the causative gene has yet to be elucidated.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 3%
Saudi Arabia 1 3%
Unknown 37 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 6 15%
Other 6 15%
Student > Ph. D. Student 4 10%
Student > Doctoral Student 3 8%
Student > Bachelor 3 8%
Other 10 26%
Unknown 7 18%
Readers by discipline Count As %
Medicine and Dentistry 14 36%
Agricultural and Biological Sciences 8 21%
Biochemistry, Genetics and Molecular Biology 3 8%
Sports and Recreations 1 3%
Unspecified 1 3%
Other 2 5%
Unknown 10 26%

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 February 2016.
All research outputs
#12,619,195
of 16,533,785 outputs
Outputs from Journal of Medical Genetics
#2,238
of 2,442 outputs
Outputs of similar age
#197,876
of 311,021 outputs
Outputs of similar age from Journal of Medical Genetics
#22
of 22 outputs
Altmetric has tracked 16,533,785 research outputs across all sources so far. This one is in the 20th percentile – i.e., 20% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,442 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.5. This one is in the 5th percentile – i.e., 5% of its peers scored the same or lower than it.
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 311,021 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 31st percentile – i.e., 31% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 22 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.