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EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders

Overview of attention for article published in European Journal of Human Genetics, September 2014
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (87th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (54th percentile)

Mentioned by

news
1 news outlet
twitter
1 tweeter

Citations

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43 Dimensions

Readers on

mendeley
122 Mendeley
citeulike
1 CiteULike
Title
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders
Published in
European Journal of Human Genetics, September 2014
DOI 10.1038/ejhg.2014.185
Pubmed ID
Authors

Valérie Biancalana, Dieter Glaeser, Shirley McQuaid, Peter Steinbach

Abstract

Different mutations occurring in the unstable CGG repeat in 5' untranslated region of FMR1 gene are responsible for three fragile X-associated disorders. An expansion of over ∼200 CGG repeats when associated with abnormal methylation and inactivation of the promoter is the mutation termed 'full mutation' and is responsible for fragile X syndrome (FXS), a neurodevelopmental disorder described as the most common cause of inherited intellectual impairment. The term 'abnormal methylation' is used here to distinguish the DNA methylation induced by the expanded repeat from the 'normal methylation' occurring on the inactive X chromosomes in females with normal, premutation, and full mutation alleles. All male and roughly half of the female full mutation carriers have FXS. Another anomaly termed 'premutation' is characterized by the presence of 55 to ∼200 CGGs without abnormal methylation, and is the cause of two other diseases with incomplete penetrance. One is fragile X-associated primary ovarian insufficiency (FXPOI), which is characterized by a large spectrum of ovarian dysfunction phenotypes and possible early menopause as the end stage. The other is fragile X-associated tremor/ataxia syndrome (FXTAS), which is a late onset neurodegenerative disorder affecting males and females. Because of the particular pattern and transmission of the CGG repeat, appropriate molecular testing and reporting is very important for the optimal genetic counselling in the three fragile X-associated disorders. Here, we describe best practice guidelines for genetic analysis and reporting in FXS, FXPOI, and FXTAS, including carrier and prenatal testing.European Journal of Human Genetics advance online publication, 17 September 2014; doi:10.1038/ejhg.2014.185.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter 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 122 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 <1%
Croatia 1 <1%
Colombia 1 <1%
Unknown 119 98%

Demographic breakdown

Readers by professional status Count As %
Student > Master 29 24%
Researcher 18 15%
Student > Ph. D. Student 17 14%
Other 13 11%
Student > Bachelor 12 10%
Other 19 16%
Unknown 14 11%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 37 30%
Medicine and Dentistry 29 24%
Agricultural and Biological Sciences 19 16%
Engineering 4 3%
Neuroscience 4 3%
Other 14 11%
Unknown 15 12%

Attention Score in Context

This research output has an Altmetric Attention Score of 10. 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 18 September 2014.
All research outputs
#816,262
of 8,163,518 outputs
Outputs from European Journal of Human Genetics
#411
of 1,814 outputs
Outputs of similar age
#23,297
of 191,304 outputs
Outputs of similar age from European Journal of Human Genetics
#19
of 61 outputs
Altmetric has tracked 8,163,518 research outputs across all sources so far. Compared to these this one has done well and is in the 89th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,814 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.7. This one has gotten more attention than average, scoring higher than 74% 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 191,304 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 87% of its contemporaries.
We're also able to compare this research output to 61 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 54% of its contemporaries.