Author

Joëlle Blankevoort

Radboud University Nijmegen

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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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Andy J. BeynoniD· 1 shared Bo ZhaoiD· 1 shared Chang Liu· 1 shared Cor W. R. J. Cremers· 1 shared Cris LantingiD· 1 shared Erik de VriezeiD· 1 shared Frans P.M. CremersiD· 1 shared Hannie KremeriD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Andy J. BeynonORCID

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1 paper

Recent·Most cited

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

Suzanne E. de Bruijn, Jeroen J. Smits, Chang Liu, Cris Lanting, Andy J. Beynon, Joëlle Blankevoort, Jaap Oostrik, Wouter Koole, Erik de Vrieze, Cor W. R. J. Cremers, Frans P.M. Cremers, Susanne Roosing, Helger G. Yntema, Henricus P. M. Kunst, Bo Zhao, , Hannie Kremer

The paper identifies an in-frame deletion in RIPOR2 as a frequent and highly penetrant cause of adult-onset hearing loss, with implications for genetic therapy.

Journal of Medical Genetics · Jul 6, 2020Peer-reviewedGenetics