Author

Stephan Käseberg

University Medical Center of the Johannes Gutenberg University MainzORCID 0000-0002-7882-5745Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Developmental Biology· 1 Genetics· 1 Neuroscience· 1 Pathology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 4 Organism:human· 4 Research Focus:cell type annotation· 3 Research Focus:differential expression· 3 Assay:bulk RNA-seq· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Research Focus:genome assembly· 1

Frequent Co-Authors

Jennifer WinteriD· 3 shared Marisa KarowiD· 2 shared Sarah FrankiD· 2 shared Susann SchweigeriD· 2 shared Susanne GerberiD· 2 shared Sven FalkiD· 2 shared Alejandro SeguraiD· 1 shared Alfredo Dueñas ReyiD· 1 shared

Activity by Year

2023-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

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3 shared papersPathology

Jennifer WinterORCID

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Author profile →

4 papers

Recent·Most cited

16p11.2 Copy Number Variation Alters Genome Architecture and Transcriptional Regulation During Neurodevelopment

Marco Bertin, Marcel Misak, Mohit Navandar, Azza Soliman, Ruxandra A. Lambuta, Roshan Tumdam, Jennifer Winter, Matthias Linke, Stephan Käseberg, Malin Dewenter, Katalin Komlósi, Lea Zografidou, Oliver Tuescher, Sergiy Davydenko, Daniel Pieh, , Susann Schweiger

This study investigates how 16p11.2 copy number variations affect genome architecture and transcription during neurodevelopment, finding both local dosage effects and broader chromatin changes.

bioRxiv · May 8, 2026 · PreprintPathology

Aberrant formation of long-range projections across different neurodevelopmental disorders converges on molecular and cellular nexuses

Federica Furlanetto, Alejandro Segura, Mathar Kravikass, Pritha Dolai, Sarah Frank, Sören Turan, Angelica Luna Leal, Stephan Käseberg, Susann Schweiger, Dieter Chichung Lie, Vasily Zaburdaev, Marisa Karow, Sven Falk

The paper investigates how mutations in SOX11, MID1, and TCF4 affect neurite formation in neurodevelopmental disorders, revealing shared molecular and cellular mechanisms.

bioRxiv · Apr 15, 2025 · PreprintDevelopmental Biology

Dynamic X-chromosomal reactivation enhances female brain resilience

Stephan Käseberg, M Bertin, Ramkumar Menon, Elisa Gabassi, Hristo Todorov, Sarah Frank, Heiko Brennenstuhl, Benjamin Lohrer, Jennifer Winter, Jennifer Krummeich, Jürgen Winkler, Beate Winner, E Weis, Dewi Hartwich, S Diederich, , Marisa Karow

The paper shows that reactivation of inactive X-chromosome alleles in female neural cells during differentiation enhances resilience to X-linked neurodevelopmental disorders.

bioRxiv · Jun 17, 2023 · PreprintNeuroscience

CEP162 deficiency causes human retinal degeneration and reveals a dual role inciliogenesis and neurogenesis

Nafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, Miriam Bauwens, Alfredo Dueñas Rey, Stephan Käseberg, Melanie Jäger, Jason R. Willer, Jennifer Winter, Hanh M. Truong, Núria Gruartmoner Roura, Mattias Van Heetvelde, Joachim Wolf, Robert Merget, Sabine Grasshoff‐Derr, , Hanno J. Bolz

The paper shows that CEP162 deficiency causes retinal degeneration by impairing ciliary function, while retaining a role in neurogenesis.

Journal of Clinical Investigation · Mar 2, 2023Peer-reviewedGenetics