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

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.

SUBMITTER: Beygo J

PROVIDER: S-EPMC6777528 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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

Beygo Jasmin J Buiting Karin K Ramsden Simon C SC Ellis Rachael R Clayton-Smith Jill J Kanber Deniz D

European journal of human genetics : EJHG 20190624 9

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. ...[more]

PMID: 31235867

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Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.

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