Author

Aimée Donald

Royal Manchester Children's HospitalORCID 0000-0002-2623-5233Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Anthony H.V. SchapiraiD· 1 shared Christos ProukakisiD· 1 shared Derralynn A. HughesiD· 1 shared Fritz Joachim SedlazeckiD· 1 shared Katya Mokretar· 1 shared Marco ToffoliiD· 1 shared Maria Athanasopoulou· 1 shared Melissa Leija‐SalazariD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Anthony H.V. SchapiraORCID

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1 paper

Recent·Most cited

Detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

Melissa Leija‐Salazar, Fritz Joachim Sedlazeck, Marco Toffoli, Stephen Mullin, Katya Mokretar, Maria Athanasopoulou, Aimée Donald, Reena Sharma, Derralynn A. Hughes, Anthony H.V. Schapira, Christos Proukakis

The paper validates the use of Oxford Nanopore MinION for detecting GBA mutations, including missense variants and deletions, with accurate phasing and intronic analysis.

Molecular Genetics & Genomic Medicine · Jan 13, 2019Peer-reviewedGenetics