Author

Maria Athanasopoulou

UCL Queen Square Institute of Neurology

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetics· 1

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

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Aimée DonaldiD· 1 shared 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 Melissa Leija‐SalazariD· 1 shared

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2019-2019 · peak 1/yr

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1 paper

Recent·Most cited

GeneticsMolecular Genetics & Genomic MedicinePeer-reviewedJan 13, 2019

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

Melissa Leija‐Salazar, Fritz Joachim Sedlazeck, Marco Toffoli…·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.

87 citationstop 2%

humanwhole-genome sequencing

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