Author

Hilde L. Swinkels

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

Click to filter author papers

Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Amber den OudeniD· 2 shared Christian GilisseniD· 2 shared Han G. BrunneriD· 2 shared Lisenka E.L.M. VissersiD· 2 shared Marjan M. WeissiD· 2 shared Ronny C. DerksiD· 2 shared Adam Pullen· 1 shared Aimee D. C. PaulusseniD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Amber den OudenORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

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

Genome sequencing as a generic diagnostic strategy for rare disease

Gaby Schobers, Ronny C. Derks, Amber den Ouden, Hilde L. Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas, Marjan M. Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom G. J. Hofste, Debby M.E.I. Hellebrekers, Nicole de Leeuw, , Lisenka E.L.M. Vissers

This study evaluates genome sequencing as a primary diagnostic tool for rare diseases, finding it can detect 95% of clinically relevant variants with a 0.3% false negative rate.

medRxiv · Sep 28, 2023 · PreprintGenetic & Genomic Medicine