Author

Evelien Zonneveld‐Huijssoon

University Medical Center GroningenORCID 0000-0002-9503-6297Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alexander HoischeniD· 1 shared Anne HebertiD· 1 shared Annet SimonsiD· 1 shared Birgit Sikkema‐RaddatziD· 1 shared Caspar I. van der MadeiD· 1 shared Cleo C. van DiemeniD· 1 shared Conny M.A. van Ravenswaaij‐ArtsiD· 1 shared Edgar T. HoorntjeiD· 1 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander HoischenORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineeLifePeer-reviewedOct 7, 2022

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study

Anne Hebert, Annet Simons, Janneke H. M. Schuurs-Hoeijmakers…·Caspar I. van der Made

This study evaluates the diagnostic value of trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity, identifying DNVs in immune-related genes and providing functional evidence for FBXW11 mutations.

13 citations

humanwhole-exome sequencing

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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

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