Author

Daniela Q.C.M. Barge‐Schaapveld

Leiden University Medical CenterORCID 0000-0003-4461-4293Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Aafke A J Lommerse· 1 shared Abbey M. Putnam· 1 shared Abeltje M. Polstra· 1 shared Adam JacksoniD· 1 shared Adi Reich· 1 shared Alexandra Garza-Flores· 1 shared Amy E. Crunk· 1 shared Andrew E. TimmsiD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetics

Aafke A J Lommerse

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2 papers

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

𝕏 PostBluesky

GeneticsGenetics in MedicinePeer-reviewedAug 3, 2021

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega…·Tahsin Stefan Barakat

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

36 citations

humanstatistical model

𝕏 PostBluesky