Author

Birgit Mazurek

Humboldt-Universität zu BerlinORCID 0000-0002-9587-6632Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alba Escalera‐BalseraiD· 1 shared Alberto Bernal-RobledanoiD· 1 shared Berthold LangguthiD· 1 shared Christopher Robin CederrothiD· 1 shared Dimitrios KikidisiD· 1 shared Jose Antonio Lopez-EscameziD· 1 shared Mai T. PhamiD· 1 shared Myra SpiliopoulouiD· 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

Alba Escalera‐BalseraORCID

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1 paper

Recent·Most cited

Loss of function and structural variants in the PRKRA synaptic gene link mild cognitive impairment and tinnitus

Mai T. Pham, Alberto Bernal-Robledano, Alba Escalera‐Balsera, Stefan Schoisswohl, Pablo Cruz‐Granados, Paula Robles-Bolívar, Birgit Mazurek, Dimitrios Kikidis, Rilana F. F. Cima, Christopher Robin Cederroth, Silvano Gallus, Myra Spiliopoulou, Berthold Langguth, Patricia Perez‐Carpena, Winfried Schlee, Jose Antonio Lopez-Escamez

The paper identifies rare PRKRA variants in individuals with tinnitus and mild cognitive impairment, linking them to early cognitive decline and suggesting a potential role in disease mechanisms.

medRxiv · Nov 4, 2025 · PreprintGenetic & Genomic Medicine