Author

Simone van den Heuvel

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.

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:experimental assay· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Approach:statistical model· 1

Frequent Co-Authors

Alexander HoischeniD· 3 shared Amber den OudeniD· 3 shared Christian GilisseniD· 3 shared Lisenka E.L.M. VissersiD· 3 shared Marjan M. WeissiD· 3 shared Ronny C. DerksiD· 3 shared Arthur van den Wijngaard· 2 shared Helger G. YntemaiD· 2 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Alexander HoischenORCID

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Author profile →

4 papers

Recent·Most cited

Clinical long-read genome sequencing for rare disease diagnostics

Tessa J.J. de Bitter, Bart P. G. H. van der Sanden, Lydia Sagath, Wolfram Höps, Peer Arts, Michelle de Groot, Marjan M. Weiss, Ronny C. Derks, Amber den Ouden, Simone van den Heuvel, Raoul Timmermans, Timon van Leeuwen, Jordi Corominas, Jos G.A. Smits, Lot Snijders Blok, , Lisenka E.L.M. Vissers

This study evaluates long-read genome sequencing in rare disease diagnostics, finding high concordance with standard-of-care tests and incremental diagnostic benefits.

New England Journal of Medicine · Jun 13, 2026Peer-reviewedGenetic & Genomic Medicine

HiFi long-read genomes for difficult-to-detect clinically relevant variants

Wolfram Höps, Marjan M. Weiss, Ronny C. Derks, Jordi Corominas, Amber den Ouden, Simone van den Heuvel, Raoul Timmermans, Jos G.A. Smits, Tom Mokveld, Egor Dolzhenko, Xiao Chen, Arthur van den Wijngaard, Michael A. Eberle, Helger G. Yntema, Alexander Hoischen, , Lisenka E.L.M. Vissers

The paper demonstrates that HiFi long-read sequencing can detect 93% of clinically relevant variants challenging to identify with short-read sequencing, using 30x coverage and showing potential for cost-effective diagnostic implementation.

The American Journal of Human Genetics · Jan 13, 2025Peer-reviewedGenetic & Genomic Medicine

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

Wouter Steyaert, Lydia Sagath, German M. Demidov, Vicente A. Yépez, Anna Esteve‐Codina, Julien Gagneur, Kornelia Ellwanger, Ronny C. Derks, Marjan M. Weiss, Amber den Ouden, Simone van den Heuvel, Hilde L. Swinkels, Nick Zomer, Marloes Steehouwer, Luke O’Gorman, , Alexander Hoischen

The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.

medRxiv · May 3, 2024 · PreprintGenetic & Genomic Medicine

Allele-specific antisense oligonucleotide therapy for dominantly inherited hearing impairment DFNA9.

Erik de Vrieze, Jolien Peijnenborg, Jorge Cañas-Martín, Aniek Martens, Jaap Oostrik, Simone van den Heuvel, Kornelia Neveling, Ronald J. E. Pennings, Hannie Kremer, Erwin van Wijk

This study demonstrates that antisense oligonucleotides targeting the c.151C>T mutation in COCH can reduce mutant transcript levels in transgenic cells, suggesting potential as a therapy for DFNA9.

bioRxiv · Sep 29, 2020 · PreprintGenetics