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

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ID: 14005
2019
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Abstract
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.
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beygo2019updateeuropean Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Beygo, Jasmin;Buiting, Karin;Ramsden, Simon C;Ellis, Rachael;Clayton-Smith, Jill;Kanber, Deniz;
Journal european journal of human genetics : ejhg
Year 2019
DOI
10.1038/s41431-019-0435-0
URL
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