Author

Chris M.J. van Uum

Maastricht University Medical Centre

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Genetic & Genomic Medicine· 1

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Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

A JansseniD· 1 shared Aimee D. C. PaulusseniD· 1 shared Arthur van den Wijngaard· 1 shared Bart de KoningiD· 1 shared Burcu YaldiziD· 1 shared Christine E.M. de Die-SmuldersiD· 1 shared Debby M.E.I. HellebrekersiD· 1 shared Edith CooneniD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

A JanssenORCID

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1 paper

Recent·Most cited

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

A Janssen, Rebekka M. Koeck, Rick Essers, Ping Cao, Wanwisa van Dijk, Marion Drüsedau, Jeroen Meekels, Burcu Yaldiz, Maartje van de Vorst, Bart de Koning, Debby M.E.I. Hellebrekers, Servi J.C. Stevens, Su Ming Sun, Malou Heijligers, Sonja A. de Munnik, , 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.

Nature Communications · Sep 2, 2024Peer-reviewedGenetic & Genomic Medicine