Author

Jelkje J. de Boer-Bergsma

University Medical Center GroningenORCID 0000-0001-5452-4262Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:ChIP-seq· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Cleo C. van DiemeniD· 2 shared Birgit Sikkema‐RaddatziD· 1 shared Conny M.A. van Ravenswaaij‐ArtsiD· 1 shared Corien C. Verschuuren‐BemelmansiD· 1 shared Daan NoordermeeriD· 1 shared Dineke S. VerbeekiD· 1 shared Eddy N. de BoeriD· 1 shared Edgar T. HoorntjeiD· 1 shared

Activity by Year

2019-2024 · peak 1/yr

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10 top collaborators · 25 mutual co-author links

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2 shared papersGenetics

Cleo C. van DiemenORCID

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2 papers

Recent·Most cited

GeneticsInternational Journal of Molecular SciencesPeer-reviewedOct 18, 2024

Identification and copy number variant analysis of enhancer regions of genes causing spinocerebellar ataxia

Fatemeh Ghorbani, Eddy N. de Boer, Michiel R. Fokkens…·Cleo C. van Diemen

The paper identifies enhancer regions of SCA genes in human cerebellum and screens for copy number variants in undiagnosed patients, finding one potential CNV of unknown significance.

2 citations

humanChIP-seq

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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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