Author

Michiel Oorsprong

Radboud University Medical Center

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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Genomics· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 3 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2

Frequent Co-Authors

Alexander HoischeniD· 3 shared Ellen Kater‐Baats· 3 shared Kornelia NevelingiD· 3 shared Ronald van BeekiD· 3 shared Dominique SmeetsiD· 2 shared Guillaume van de Zande· 2 shared Marc PauperiD· 2 shared Marian Stevens‐KroefiD· 2 shared

Activity by Year

2020-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenomics

Alexander HoischenORCID

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Author profile →

3 papers

Recent·Most cited

Optical genome mapping enables accurate repeat expansion testing

Bart P. G. H. van der Sanden, Kornelia Neveling, Syukri Shukor, Michael D. Gallagher, Joyce Lee, Stephanie L. Burke, Maartje Pennings, Ronald van Beek, Michiel Oorsprong, Ellen Kater‐Baats, Eveline J. Kamping, Alide A. Tieleman, Nicol Cornelia Voermans, Ingrid Eileen Scheffer, Jozef Gécz, , Alexander Hoischen

This study evaluates optical genome mapping (OGM) for detecting STR repeat expansions and somatic instability, showing high accuracy and efficiency compared to current methods.

bioRxiv · Apr 19, 2024 · PreprintGenomics

Next generation cytogenetics: genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samples

Tuomo Mantere, Kornelia Neveling, Céline Pebrel‐Richard, Marion Benoist, Guillaume van de Zande, Ellen Kater‐Baats, Imane Baatout, Ronald van Beek, Tony Yammine, Michiel Oorsprong, Daniel Olde-Weghuis, Wed Majdali, Susan Vermeulen, Marc Pauper, Aziza Lebbar, , Laïla El Khattabi

This study evaluates high-resolution optical mapping for detecting chromosomal aberrations in 85 samples, achieving 100% concordance with standard tests for non-centromeric breakpoints.

bioRxiv · Jul 15, 2020 · PreprintGenetics

Next generation cytogenetics: comprehensive assessment of 48 leukemia genomes by genome imaging

Kornelia Neveling, Tuomo Mantere, Susan Vermeulen, Michiel Oorsprong, Ronald van Beek, Ellen Kater‐Baats, Marc Pauper, Guillaume van de Zande, Dominique Smeets, Daniël Olde Weghuis, Marian Stevens‐Kroef, Alexander Hoischen

This study assesses genome imaging in 48 leukemia cases, showing it can detect complex structural variants and chromosomal aberrations with high accuracy, potentially replacing traditional cytogenetic methods.

bioRxiv · Feb 6, 2020 · PreprintGenomics