4.5 Article

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

Journal

EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 27, Issue 9, Pages 1326-1340

Publisher

NATURE PUBLISHING GROUP
DOI: 10.1038/s41431-019-0435-0

Keywords

-

Funding

  1. Bundesministerium fur Bildung und Forschung (BMBF) [01GM1513A]
  2. EMQN team in Manchester, UK

Ask authors/readers for more resources

This article is an update of the best practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes published in 2010 in BMC Medical Genetics [1]. The update takes into account developments in terms of techniques, differential diagnoses and (especially) reporting standards. It highlights the advantages and disadvantages of each method and moreover, is meant to facilitate the interpretation of the obtained results - leading to improved standardised reports.

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.5
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

No Data Available
No Data Available