| 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. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 33% |
| France | 1 | 33% |
| Unknown | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 95 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 1% |
| Unknown | 94 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 19 | 20% |
| Other | 12 | 13% |
| Student > Master | 10 | 11% |
| Student > Ph. D. Student | 9 | 9% |
| Student > Bachelor | 7 | 7% |
| Other | 15 | 16% |
| Unknown | 23 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 29 | 31% |
| Medicine and Dentistry | 23 | 24% |
| Agricultural and Biological Sciences | 9 | 9% |
| Pharmacology, Toxicology and Pharmaceutical Science | 3 | 3% |
| Psychology | 2 | 2% |
| Other | 2 | 2% |
| Unknown | 27 | 28% |
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
#2,548,667
of 26,017,215 outputs
Outputs from European Journal of Human Genetics
#550
of 3,813 outputs
Outputs of similar age
#40,527
of 327,984 outputs
Outputs of similar age from European Journal of Human Genetics
#11
of 49 outputs
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We're also able to compare this research output to 49 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 77% of its contemporaries.