Author

Claudine W.B. Ruijmbeek

Erasmus MCORCID 0000-0002-8893-6975Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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 Assay:multiome· 1 Research Focus:protein structure prediction· 1 Assay:proteomics· 1

Frequent Co-Authors

Alexander HirschiD· 1 shared Edgar E. NolletiD· 1 shared Federico FerraroiD· 1 shared Henk S. SchipperiD· 1 shared Herma C. van der LindeiD· 1 shared Jan H. von der ThüseniD· 1 shared Jeroen DemmersiD· 1 shared Judith M. A. VerhageniD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander HirschORCID

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1 paper

Recent·Most cited

Bi-allelic variants in the aminopeptidase XPNPEP3 cause mitochondrial disease with pediatric cardiomyopathy

Claudine W.B. Ruijmbeek, Sjoerd Ruizenaar, Herma C. van der Linde, Edgar E. Nollet, Wouter A. S. Doff, Victoria C.S. Bogaard, Marlene de Pee, Federico Ferraro, Richard J. Rodenburg, Henk S. Schipper, Alexander Hirsch, Marjon A. van Slegtenhorst, Jan H. von der Thüsen, Jeroen Demmers, Wilfred F. J. van IJcken, , Judith M. A. Verhagen

This study identifies bi-allelic XPNPEP3 variants causing mitochondrial disease with pediatric cardiomyopathy, revealing impaired mitochondrial protein processing as the underlying mechanism.

medRxiv · Jan 11, 2025 · PreprintGenetic & Genomic Medicine