Author

Mirjam C. Boelens

The Netherlands Cancer Institute

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· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Edwin P. J. G. CuppeniD· 2 shared Kim MonkhorstiD· 2 shared Kris G. SamsomiD· 2 shared Paul RoepmaniD· 2 shared Alexander HoischeniD· 1 shared Bauke YlstraiD· 1 shared Daphne M. van BeekiD· 1 shared Efraim H. RosenbergiD· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Edwin P. J. G. CuppenORCID

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2 papers

Recent·Most cited

Impact of genetic counselling strategy on diagnostic yield and workload for genome sequencing-based tumour diagnostics

Roelof Koster, Luuk J. Schipper, Noor A. A. Giesbertz, Daphne M. van Beek, Matías Mendeville, Kris G. Samsom, Efraim H. Rosenberg, Frans B.L. Hogervorst, Paul Roepman, Mirjam C. Boelens, Linda J.W. Bosch, José G. van den Berg, Gerrit A. Meijer, Emile E. Voest, Edwin P. J. G. Cuppen, , Kim Monkhorst

This study evaluates genetic counselling strategies for genome sequencing-based tumour diagnostics, finding that post-test strategies reduce unnecessary referrals while maintaining PGV detection rates.

Genetics in Medicine · Nov 22, 2023Peer-reviewedGenetic & Genomic Medicine

Clinical validation of Whole Genome Sequencing for cancer diagnostics

Paul Roepman, Ewart de Bruijn, Stef van Lieshout, Lieke Schoenmaker, Mirjam C. Boelens, Hendrikus Jan Dubbink, Willemina R.R. Geurts-Giele, Floris H. Groenendijk, Manon M. H. Huibers, Mariëtte E.G. Kranendonk, Margaretha G.M. Roemer, Kris G. Samsom, Marloes Steehouwer, Wendy W.J. de Leng, Alexander Hoischen, , Edwin P. J. G. Cuppen

This study validates whole genome sequencing as a reliable single assay for detecting various cancer mutations with high sensitivity and precision.

Journal of Molecular Diagnostics · May 6, 2021Peer-reviewedGenetic & Genomic Medicine