Author

Janine Reurink

Radboud University Medical CenterORCID 0000-0002-5677-9258Unclaimed 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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Approach:experimental assay· 2 Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Christian GilisseniD· 2 shared Frans P.M. CremersiD· 2 shared Susanne RoosingiD· 2 shared Suzanne E. de BruijniD· 2 shared Tamar Ben‐YosefiD· 2 shared Alberta A. H. J. ThiadensiD· 1 shared Alexander HoischeniD· 1 shared Anna Maria TracewskaiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Christian GilissenORCID

Mutual co-authors in cluster

Author profile →

2 papers

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

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben‐Yosef, Béatrice Bocquet, Marieke De Bruyne, , Susanne Roosing

The paper introduces a cost-effective smMIPs panel for genetic analysis of RP and LCA, achieving a 56% diagnostic yield comparable to WES.

Frontiers in Cell and Developmental Biology · Feb 3, 2023Peer-reviewedGenetic & Genomic Medicine