Author

Catharina Gerritdina Faber

Maastricht University Medical CentreORCID 0000-0002-2467-067XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Cell Biology· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Approach:deep learning· 1 Assay:DNA methylation· 1 Assay:electronic health records· 1 Approach:experimental assay· 1

Frequent Co-Authors

Alain J. van GooliD· 1 shared Andrea BarbieriiD· 1 shared Anna Pérez-GonzáleziD· 1 shared Casper de VisseriD· 1 shared Cenna DoornbosiD· 1 shared Clara Rubio· 1 shared Clara van KarnebeekiD· 1 shared Dirk J. LefeberiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperCell Biology

Alain J. van GoolORCID

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2 papers

Recent·Most cited

Dissecting the sources of variation in neuronally differentiated iPSC lines through multi-omics analysis

Casper de Visser, Lisa Rahm, Elly Lewerissa, Rachel Mijdam, Cenna Doornbos, Junda Huang, Luke O’Gorman, Firdaws Badmus, Clara van Karnebeek, Catharina Gerritdina Faber, J. Verhoeven, Hans van Bokhoven, Nael Nadif Kasri, Dirk J. Lefeber, Peter A.C. ’t Hoen, , Purva Kulkarni

The paper identifies major sources of variability in iPSC-derived neurons and shows how correcting these improves disease signature detection.

bioRxiv · Jun 10, 2026 · PreprintCell Biology

KCNK18 c.1107del frameshift in peripheral neuropathy links TRESK dysfunction to neuropathic pain

Clara Rubio, Milena Ślęczkowska, Enric Pisa, Andrea Barbieri, Anna Pérez-González, Gerard Callejo, Margherita Marchi, Erika Salvi, Grazia Devigili, Janneke G. J. Hoeijmakers, Catharina Gerritdina Faber, Monique M. Gerrits, Hubert J.M. Smeets, Guillaume Sandoz, Xavier Gasull, Núria Comes

The paper identifies a frameshift mutation in KCNK18 causing TRESK dysfunction, linking it to neuropathic pain through haploinsufficiency and altered channel function.

bioRxiv · Dec 10, 2025 · PreprintNeuroscience