Author

Femke van Erp

Radboud University Medical Center

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

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Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Christian GilisseniD· 1 shared Erik de VriezeiD· 1 shared Erwin van WijkiD· 1 shared Frans P.M. CremersiD· 1 shared Hannie KremeriD· 1 shared Helger G. YntemaiD· 1 shared Janine ReurinkiD· 1 shared Kim RodenburgiD· 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 GilissenORCID

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1 paper

Recent·Most cited

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