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A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

Overview of attention for article published in BMC Medical Genomics, August 2012
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1 X user

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Title
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
Published in
BMC Medical Genomics, August 2012
DOI 10.1186/1471-2350-13-71
Pubmed ID
Authors

Neil A Hanchard, Claudia MB Carvalho, Patricia Bader, Aaron Thome, Lisa Omo-Griffith, Daniela del Gaudio, Davut Pehlivan, Ping Fang, Christian P Schaaf, Melissa B Ramocki, James R Lupski, Sau Wai Cheung

Abstract

Duplications of the X-linked MECP2 gene are associated with moderate to severe intellectual disability, epilepsy, and neuropsychiatric illness in males, while triplications are associated with a more severe phenotype. Most carrier females show complete skewing of X-inactivation in peripheral blood and an apparent susceptibility to specific personality traits or neuropsychiatric symptoms.

X Demographics

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

Geographical breakdown

Country Count As %
South Africa 1 3%
Unknown 33 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 8 24%
Researcher 6 18%
Student > Bachelor 5 15%
Other 4 12%
Professor > Associate Professor 4 12%
Other 3 9%
Unknown 4 12%
Readers by discipline Count As %
Agricultural and Biological Sciences 10 29%
Medicine and Dentistry 6 18%
Biochemistry, Genetics and Molecular Biology 4 12%
Psychology 3 9%
Nursing and Health Professions 2 6%
Other 4 12%
Unknown 5 15%
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 August 2012.
All research outputs
#20,656,820
of 25,374,917 outputs
Outputs from BMC Medical Genomics
#1,682
of 2,444 outputs
Outputs of similar age
#146,070
of 185,639 outputs
Outputs of similar age from BMC Medical Genomics
#27
of 33 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 10th percentile – i.e., 10% of other outputs scored the same or lower than it.
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.
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 185,639 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 9th percentile – i.e., 9% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 33 others from the same source and published within six weeks on either side of this one. This one is in the 3rd percentile – i.e., 3% of its contemporaries scored the same or lower than it.