Author

Florian A. Winkelaar

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· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:zebrafish· 1

Frequent Co-Authors

Christian Betz· 1 shared Christian Gillissen· 1 shared David Rosenkranz· 1 shared Dirk H. Wijn· 1 shared Erik de Vrieze· 1 shared Erwin van WijkiD· 1 shared Frans P.M. Cremers· 1 shared Galena Khazeeva· 1 shared

Activity by Year

2026-2026 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Christian Betz

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1 paper

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