Author

Michelle de Groot

Radboud University Medical CenterORCID 0009-0002-1268-7033Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 2 Approach:experimental assay· 1 Research Focus:phylogenetics / evolution· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Christian GilisseniD· 3 shared Helger G. YntemaiD· 3 shared Alexander HoischeniD· 2 shared Amber den OudeniD· 2 shared Bart P. G. H. van der SandeniD· 2 shared Erik‐Jan KamsteegiD· 2 shared Jordi Corominas· 2 shared Lisenka E.L.M. VissersiD· 2 shared

Activity by Year

2021-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Christian GilissenORCID

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3 papers

Recent·Most cited

GeneticsbioRxivPreprintOct 8, 2026

Distinct mechanisms of CNV formation at the human 15q13.3 locus

Wolfram Höps, David Porubskỳ, DongAhn Yoo…·Christian Gilissen

The paper identifies distinct mechanisms of CNV formation at the human 15q13.3 locus, showing that non-allelic homologous recombination is the primary mechanism, influenced by inversion polymorphisms and population-specific susceptibility.

1 citation

humanwhole-genome sequencing

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Genetic & Genomic MedicineNew England Journal of MedicinePeer-reviewedJun 13, 2026

Clinical long-read genome sequencing for rare disease diagnostics

Tessa J.J. de Bitter, Bart P. G. H. van der Sanden, Lydia Sagath…·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.

6 citationstop 1%

humanwhole-genome sequencing

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedApr 12, 2021

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

Bart P. G. H. van der Sanden, Jordi Corominas, Michelle de Groot…·Christian Gilissen

This study systematically analyzes short tandem repeats in exomes to improve diagnostic yield in genetic testing.

47 citationstop 3%

humanwhole-exome sequencing

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