Author

Katherine C. MacKenzie

Erasmus MCORCID 0000-0002-9656-637XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Alice S. BrooksiD· 1 shared Annelies de KleiniD· 1 shared Anwarul KarimiD· 1 shared Bianca M. de GraafiD· 1 shared Clara Sze-Man TangiD· 1 shared Conny J. H. M. MeeusseniD· 1 shared Cornelius E. J. SlootsiD· 1 shared Dick TibboeliD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alice S. BrooksORCID

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1 paper

Recent·Most cited

Size matters: large copy number losses reveal novel Hirschsprung disease genes

Laura E. Kuil, Katherine C. MacKenzie, Clara Sze-Man Tang, Jonathan D. Windster, Linh Thuy Le, Anwarul Karim, Bianca M. de Graaf, Robert M. van der Helm, Yolande van Bever, Cornelius E. J. Sloots, Conny J. H. M. Meeussen, Dick Tibboel, Annelies de Klein, Rene M. H. Wijnen, Jeanne Amiel, , Erwin Brosens

The paper identifies large copy number losses as contributors to Hirschsprung disease, specifically in HSCR-AAM patients, and validates four genes involved in enteric nervous system development.

PLoS Genetics · Aug 6, 2021Peer-reviewedGenetic & Genomic Medicine