Author

Eddy N. de Boer

University Medical Center GroningenORCID 0000-0002-7138-8642Unclaimed 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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Approach:experimental assay· 2 Organism:human· 2 Assay:ChIP-seq· 1 Research Focus:gene regulatory network inference· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Cleo C. van DiemeniD· 2 shared Arjen J. Scheper· 1 shared Birgit Sikkema‐RaddatziD· 1 shared Corien C. Verschuuren‐BemelmansiD· 1 shared Daan NoordermeeriD· 1 shared Dineke S. VerbeekiD· 1 shared Elles Wierenga· 1 shared Eva van den Berg· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 27 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

GeneticsScientific ReportsPeer-reviewedApr 11, 2024

Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics.

Eddy N. de Boer, Vincent Vroom, Arjen J. Scheper…·Cleo C. van Diemen

This study uses Cas9-directed long-read sequencing to validate and refine optical genome mapping findings in leukemia diagnostics, improving breakpoint resolution and clinical relevance assessment.

4 citations

humanlong-read sequencing