Author

Laura Whelan

Trinity College DublinORCID 0000-0002-0537-4349Unclaimed 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

Adrian DockeryiD· 1 shared Alaa AlTalbishiiD· 1 shared Alexander HoischeniD· 1 shared Ana FakiniD· 1 shared Andrea Louise VincentiD· 1 shared Anna Maria TracewskaiD· 1 shared Anna MatyniaiD· 1 shared Aurore DevosiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Adrian DockeryORCID

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1 paper

Recent·Most cited

GeneticsGenetics in MedicinePeer-reviewedApr 19, 2020

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero…·Frans P.M. Cremers

The paper identifies pathogenic deep-intronic and structural variants in 26% of unsolved Stargardt disease cases using integrated genomics and transcriptomics.

131 citationstop 2%

humanwhole-genome sequencing

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