Author

Yuval Cohen

Bar-Ilan UniversityORCID 0009-0006-4056-0012Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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 Femke van Erp· 1 shared Frans P.M. CremersiD· 1 shared Hannie KremeriD· 1 shared Helger G. YntemaiD· 1 shared Janine ReurinkiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

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

GeneticsbioRxivPreprintAug 24, 2026

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

Kim Rodenburg, Leony Fenwick, Ronald J. E. Pennings…·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.

DOI 10.64898/2026.08.20.746067

humanwhole-genome sequencing

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