Author

Leony Fenwick

1. Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands;

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Erwin van WijkiD· 2 shared Kim RodenburgiD· 2 shared Christian Betz· 1 shared Christian GilisseniD· 1 shared Christian Gillissen· 1 shared David Rosenkranz· 1 shared Dirk H. Wijn· 1 shared Erik de Vrieze· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetics

Erwin van WijkORCID

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2 papers

Recent·Most cited

Deep-intronic variants in USH2A: the importance of model selection in variant interpretation and pathogenicity assessment

Kim Rodenburg, Renske T.W. Schellens, Sanne Broekman, Leony Fenwick, Florian A. Winkelaar, Dirk H. Wijn, Galuh D.N. Astuti, Galena Khazeeva, Christian Gillissen, Frans P.M. Cremers, Ronald J.E. Pennings, Theo Peters, Ulrich Zechner, David Rosenkranz, Christian Betz, , Erwin van Wijk

The paper evaluates two USH2A variants using minigene assays and zebrafish models, finding that one variant may be benign and the other not pathogenic.

bioRxiv · Nov 3, 2026 · PreprintGenetics

Genome sequencing reveals novel pathogenic deep-intronic PCDH15 variants, amenable to antisense oligonucleotide-based splice correction

Kim Rodenburg, Leony Fenwick, Ronald J. E. Pennings, Lonneke Haer‐Wigman, Tamar Ben‐Yosef, Femke van Erp, Janine Reurink, Christian Gilissen, L. Ingeborgh van den Born, Frans P.M. Cremers, Yuval Cohen, Helger G. Yntema, Erik de Vrieze, Hannie Kremer, Suzanne E. de Bruijn, , Erwin van Wijk

The paper identifies two novel deep-intronic PCDH15 variants in Usher syndrome patients and demonstrates the efficacy of antisense oligonucleotides in correcting their splicing defects.

bioRxiv · Aug 24, 2026 · PreprintGenetics