Author

Sonja A. de Munnik

Maastricht University Medical CentreORCID 0000-0002-1213-6373Unclaimed ORCID profile · follow to get notified of new preprints

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 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

A JansseniD· 1 shared Aimee D. C. PaulusseniD· 1 shared Alexander HoischeniD· 1 shared Anne HebertiD· 1 shared Annet SimonsiD· 1 shared Arthur van den Wijngaard· 1 shared Bart de KoningiD· 1 shared Burcu YaldiziD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 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

A JanssenORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedSep 2, 2024

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

A Janssen, Rebekka M. Koeck, Rick Essers…·Masoud Zamani Esteki

This paper introduces a whole genome sequencing-based haplarithmisis method for preimplantation genetic testing, improving coverage, reducing artifacts, and enabling new applications like trio-based aneuploidy detection.

23 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineeLifePeer-reviewedOct 7, 2022

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study

Anne Hebert, Annet Simons, Janneke H. M. Schuurs-Hoeijmakers…·Caspar I. van der Made

This study evaluates the diagnostic value of trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity, identifying DNVs in immune-related genes and providing functional evidence for FBXW11 mutations.

13 citations

humanwhole-exome sequencing

𝕏 PostBluesky