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Intragenic duplication of EHMT1 gene results in Kleefstra syndrome

Overview of attention for article published in Molecular Cytogenetics, October 2014
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  • Good Attention Score compared to outputs of the same age (67th percentile)
  • High Attention Score compared to outputs of the same age and source (83rd percentile)

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Title
Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
Published in
Molecular Cytogenetics, October 2014
DOI 10.1186/s13039-014-0074-7
Pubmed ID
Authors

Eva Maria Christina Schwaibold, Mateja Smogavec, Elke Hobbiebrunken, Lorenz Winter, Barbara Zoll, Peter Burfeind, Knut Brockmann, Silke Pauli

Abstract

Kleefstra syndrome is characterized by intellectual disability, muscular hypotonia in childhood and typical facial features. It results from either a microdeletion of or a deleterious sequence variant in the gene euchromatic histone-lysine N-methyltransferase 1 (EHMT1) on chromosome 9q34.

X Demographics

X Demographics

The data shown below were collected from the profiles of 4 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 40 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Portugal 1 3%
Czechia 1 3%
Unknown 38 95%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 7 18%
Student > Bachelor 6 15%
Other 5 13%
Student > Master 5 13%
Researcher 5 13%
Other 6 15%
Unknown 6 15%
Readers by discipline Count As %
Medicine and Dentistry 13 33%
Biochemistry, Genetics and Molecular Biology 8 20%
Agricultural and Biological Sciences 7 18%
Nursing and Health Professions 1 3%
Business, Management and Accounting 1 3%
Other 4 10%
Unknown 6 15%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 08 July 2017.
All research outputs
#7,347,759
of 22,768,097 outputs
Outputs from Molecular Cytogenetics
#57
of 400 outputs
Outputs of similar age
#83,902
of 260,450 outputs
Outputs of similar age from Molecular Cytogenetics
#2
of 12 outputs
Altmetric has tracked 22,768,097 research outputs across all sources so far. This one has received more attention than most of these and is in the 67th percentile.
So far Altmetric has tracked 400 research outputs from this source. They receive a mean Attention Score of 2.4. This one has done well, scoring higher than 85% 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 260,450 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 67% of its contemporaries.
We're also able to compare this research output to 12 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 83% of its contemporaries.