Author

Jan H. von der Thüsen

Erasmus MCORCID 0000-0001-9699-4860Unclaimed 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: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 Claudine W.B. RuijmbeekiD· 1 shared Edgar E. NolletiD· 1 shared Federico FerraroiD· 1 shared Henk S. SchipperiD· 1 shared Herma C. van der LindeiD· 1 shared Jeroen DemmersiD· 1 shared Judith M. A. VerhageniD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

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

Genetic & Genomic MedicinemedRxivPreprintJan 11, 2025

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

Claudine W.B. Ruijmbeek, Sjoerd Ruizenaar, Herma C. van der Linde…·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.

1 citation

humanzebrafish

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