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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

Overview of attention for article published in European Journal of Human Genetics, May 2016
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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 (88th percentile)
  • Good Attention Score compared to outputs of the same age and source (75th percentile)

Mentioned by

news
1 news outlet
twitter
3 tweeters

Citations

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50 Dimensions

Readers on

mendeley
66 Mendeley
Title
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
Published in
European Journal of Human Genetics, May 2016
DOI 10.1038/ejhg.2016.45
Pubmed ID
Authors

Katja Eggermann, Jet Bliek, Frédéric Brioude, Elizabeth Algar, Karin Buiting, Silvia Russo, Zeynep Tümer, David Monk, Gudrun Moore, Thalia Antoniadi, Fiona Macdonald, Irène Netchine, Paolo Lombardi, Lukas Soellner, Matthias Begemann, Dirk Prawitt, Eamonn R Maher, Marcel Mannens, Andrea Riccio, Rosanna Weksberg, Pablo Lapunzina, Karen Grønskov, Deborah JG Mackay, Thomas Eggermann

Abstract

Molecular genetic testing for the 11p15-associated imprinting disorders Silver-Russell and Beckwith-Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. With the growing knowledge on the molecular basis of these disorders and the demand for molecular testing, it turned out that there is an urgent need for a standardized molecular diagnostic testing and reporting strategy. Based on the results from the first external pilot quality assessment schemes organized by the European Molecular Quality Network (EMQN) in 2014 and in context with activities of the European Network of Imprinting Disorders (EUCID.net) towards a consensus in diagnostics and management of SRS and BWS, best practice guidelines have now been developed. Members of institutions working in the field of SRS and BWS diagnostics were invited to comment, and in the light of their feedback amendments were made. The final document was ratified in the course of an EMQN best practice guideline meeting and is in accordance with the general SRS and BWS consensus guidelines, which are in preparation. These guidelines are based on the knowledge acquired from peer-reviewed and published data, as well as observations of the authors in their practice. However, these guidelines can only provide a snapshot of current knowledge at the time of manuscript submission and readers are advised to keep up with the literature.European Journal of Human Genetics advance online publication, 11 May 2016; doi:10.1038/ejhg.2016.45.

Twitter Demographics

The data shown below were collected from the profiles of 3 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 66 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 2%
Unknown 65 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 16 24%
Student > Master 9 14%
Student > Ph. D. Student 8 12%
Other 7 11%
Student > Bachelor 5 8%
Other 13 20%
Unknown 8 12%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 23 35%
Medicine and Dentistry 16 24%
Agricultural and Biological Sciences 8 12%
Pharmacology, Toxicology and Pharmaceutical Science 3 5%
Psychology 2 3%
Other 2 3%
Unknown 12 18%

Attention Score in Context

This research output has an Altmetric Attention Score of 14. 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 20 September 2016.
All research outputs
#966,337
of 12,346,729 outputs
Outputs from European Journal of Human Genetics
#256
of 2,344 outputs
Outputs of similar age
#31,791
of 274,783 outputs
Outputs of similar age from European Journal of Human Genetics
#23
of 92 outputs
Altmetric has tracked 12,346,729 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,344 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one has done well, scoring higher than 88% 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 274,783 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 88% of its contemporaries.
We're also able to compare this research output to 92 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 75% of its contemporaries.