Author

Paul A. van der Zwaag

University Medical Center GroningenORCID 0000-0001-6693-0321Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:bulk RNA-seq· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Arthur A.M. WildeiD· 2 shared J. Peter van TinteleniD· 2 shared Jan D.H. JongbloediD· 2 shared Lude FrankeiD· 2 shared Morris A. SwertziD· 2 shared Patrick DeeleniD· 2 shared Alex Vincent PostmaiD· 1 shared Alexa M.C. VermeeriD· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Arthur A.M. WildeORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 4, 2024

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

Michele Nicastro, Alexa M.C. Vermeer, Pieter Gerard Postema…·Najim Lahrouchi

DOI 10.1101/2024.07.04.24309755

humanbulk RNA-seq

𝕏 PostBluesky

Genetic & Genomic MedicineJournal of Cardiovascular Translational ResearchPeer-reviewedJan 9, 2023

Phenotypic and genetic factors are associated with absence of cardiomyopathy symptoms in PLN c.40_42delAGA carriers

Esteban A. Lopera-Maya, Shuang� Li, Remco de Brouwer…·Rudolf A. de Boer

The paper identifies shorter QRS duration in asymptomatic PLN c.40_42delAGA carriers and links it to genetic sensitivity in symptomatic carriers.

6 citations

humanstatistical model

𝕏 PostBluesky

GeneticsNature CommunicationsPeer-reviewedJun 28, 2019

Improving the diagnostic yield of exome-sequencing, by predicting gene-phenotype associations using large-scale gene expression analysis

Patrick Deelen, Sipko van Dam, Johanna C. Herkert…·Lude Franke

This paper introduces GADO, a tool that uses gene expression data to predict gene-phenotype associations and improve diagnostic yield in exome sequencing by prioritizing variants in patients with unknown genetic diagnoses.

138 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky