Author

Wouter Koole

Radboud University NijmegenORCID 0000-0002-8065-0630Unclaimed 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 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexey ZabelkiniD· 1 shared Andy J. BeynoniD· 1 shared Angela L MilleriD· 1 shared Bert van der ZwaagiD· 1 shared Bo ZhaoiD· 1 shared Chang Liu· 1 shared Cor W. R. J. Cremers· 1 shared Cris LantingiD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexey ZabelkinORCID

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2 papers

Recent·Most cited

Accurate repeat expansion genotyping from whole-genome and real-time targeted nanopore sequencing with Mahi-mahi

Sophia B Gibson, Rebecca N Palmer, Sebastian Hollizeck, Wouter Koole, Heather M. Jeffery, Mirjan Albring, Jillian G. Buchan, R. Keira Cheetham, Martin Elferink, Joy Goffena, Elizabeth J. Hamlin, Rumo Jansen, Paul J. Lockhart, Dr. Rachel Martin, Angela L Miller, , Philipp Rescheneder

Mahi-mahi accurately genotypes repeat expansions from nanopore sequencing data, matching orthogonal methods and identifying pathogenic alleles.

medRxiv · Oct 20, 2026 · PreprintGenetic & Genomic Medicine

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

Suzanne E. de Bruijn, Jeroen J. Smits, Chang Liu, Cris Lanting, Andy J. Beynon, Joëlle Blankevoort, Jaap Oostrik, Wouter Koole, Erik de Vrieze, Cor W. R. J. Cremers, Frans P.M. Cremers, Susanne Roosing, Helger G. Yntema, Henricus P. M. Kunst, Bo Zhao, , Hannie Kremer

The paper identifies an in-frame deletion in RIPOR2 as a frequent and highly penetrant cause of adult-onset hearing loss, with implications for genetic therapy.

Journal of Medical Genetics · Jul 6, 2020Peer-reviewedGenetics