Author

Friederike Jahnke

German Primate Center

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Organism:zebrafish· 1

Frequent Co-Authors

Barbara VonaiD· 2 shared Daniel OwrangiD· 2 shared Abolfazl RadiD· 1 shared Alihossein Sabri· 1 shared Alireza SedaghatiD· 1 shared Alper GezdiriciiD· 1 shared Andrew E. FryiD· 1 shared Ann‐Charlotte ThuressoniD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

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10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Barbara VonaORCID

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2 papers

Recent·Most cited

Protocol for a minigene splice assay using the pET01 vector

Hannah Andreae, Marialessandra Curcio, Daniel Owrang, Sahar Esmaeelpour, Friederike Jahnke, Fritz Benseler, Nils Brose, Barbara Vona

The paper describes a protocol for an in vitro minigene splice assay using the pET01 vector to study aberrant splicing when patient samples or accessible tissues are unavailable.

STAR Protocols · Jun 18, 2025Peer-reviewedGenetics

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Renee Lin, Irem Karagoz, Kejia Zhang, Rauan B. Kaiyrzhanov, Annarita Scardamaglia, Daniel Owrang, Valentina Turchetti, Friederike Jahnke, Kevin Huang, Cassidy Petree, , Dragony Fu

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

The American Journal of Human Genetics · Apr 16, 2025Peer-reviewedGenetic & Genomic Medicine