Author

Tobias Rothoeft

Katholisches Klinikum BochumORCID 0000-0002-3728-5893Unclaimed 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· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Organism:mouse· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

A. Elsayed· 1 shared A. L. Bruel· 1 shared Alexandra Marzena Morawiec· 1 shared Alexandra Tibelius· 1 shared Alexej KnausiD· 1 shared Alireza SedaghatiD· 1 shared Alma Kuechler· 1 shared Amalia-Mihaela Hanßke· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

A. Elsayed

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 4, 2026

XPOT Deficiency causes a human disorder through impaired tRNA nuclear export

Sandra v. Hardenberg, Indra Niehaus, Anna Wiemers…·Bernd Auber

This study identifies XPOT deficiency as a human disorder causing immune defects, hearing loss, and developmental issues through impaired tRNA nuclear export.

DOI 10.64898/2026.01.28.26344748

humanmouse

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintApr 19, 2023

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann…·Lilian Tamara Kaufmann

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.

12 citations

humanwhole-exome sequencing

𝕏 PostBluesky