Author

Tessa J.J. de Bitter

Radboud University Medical CenterORCID 0000-0002-8669-3834Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Frequent Co-Authors

Aimee D. C. PaulusseniD· 1 shared Alexander HoischeniD· 1 shared Alexander P.A. StegmanniD· 1 shared Amber den OudeniD· 1 shared Arjen R. MensenkampiD· 1 shared Arthur van den Wijngaard· 1 shared Bart P. G. H. van der SandeniD· 1 shared Christian GilisseniD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 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

1 shared paperGenetic & Genomic Medicine

Aimee D. C. PaulussenORCID

Mutual co-authors in cluster

Author profile →

1 paper

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