Author

Jaël S. Copier

Amsterdam UMC Location University of AmsterdamORCID 0000-0002-8421-9346Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Aafke A J Lommerse· 1 shared Arie O. VerkerkiD· 1 shared Arthur A.M. WildeiD· 1 shared Chai‐Ann NgiD· 1 shared Connie R. BezzinaiD· 1 shared Daniela Q.C.M. Barge‐SchaapveldiD· 1 shared Elisabeth M. LodderiD· 1 shared Hennie Bikker· 1 shared

Activity by Year

2022-2022 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Aafke A J Lommerse

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1 paper

Recent·Most cited

GeneticsHuman Molecular GeneticsPeer-reviewedOct 19, 2022

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

Jaël S. Copier, Marianne Bootsma, Chai‐Ann Ng…·Elisabeth M. Lodder

The paper reclassifies a variant in KCNH2 as a low penetrant likely pathogenic variant for LQTS2 based on biophysical effects and clinical variability.

6 citations

humanexperimental assay

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