Author

Mandy Radefeldt

Centogene (Germany)

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· 2 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Approach:statistical model· 2 Approach:benchmark study· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Christian BeetziD· 2 shared Peter BaueriD· 2 shared Aditya SurapaneniiD· 1 shared Alla TimofeevaiD· 1 shared Allison Ann DilliottiD· 1 shared Andrew SingletoniD· 1 shared Andrey DamianoviD· 1 shared Anton EmelyanoviD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christian BeetzORCID

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Author profile →

3 papers

Recent·Most cited

The GBA1 p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis

Leah V. Chifamba, Sitki Cem Parlar, Emma N. Somerville, Lang Liu, Eric Yu, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Jennifer A. Ruskey, Cheryl Waters, Oury Monchi, Yves A Dauvilliers, Nicolas Dupré, Alla Timofeeva, Anton Emelyanov, , Ziv Gan‐Or

This study finds the GBA1 p.E427K variant increases risk for synucleinopathies through a meta-analysis of case-control studies.

Movement Disorders · May 22, 2026Peer-reviewedGenetic & Genomic Medicine

Expression and DNA methylation of 20S proteasome subunits as prognostic and resistance markers in cancer

Ruba Al‐Abdulla, Simone Venz, Ruslan Al‐Ali, Martin Wendlandt, Mandy Radefeldt, Elke Krüger

The paper analyzes the expression and DNA methylation of 20S proteasome subunits across cancers, finding cancer-type dependent survival associations and functional pathway impacts.

Molecular Oncology · Aug 27, 2025Peer-reviewedMolecular Biology

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

Pilar Álvarez Jerez, Peter Wild Crea, Daniel M. Ramos, Emil Karl Gustavsson, Mandy Radefeldt, Andrey Damianov, Mary B. Makarious, Oluwadamilola Omolara Ojo, Kimberley J. Billingsley, Laksh Malik, Kensuke Daida, Sarah Bromberek, Fangle Hu, Zachary Schneider, Aditya Surapaneni, , Cornelis Blauwendraat

The paper identifies a non-coding risk variant in GBA1 associated with Parkinson's disease in African ancestry populations, showing it disrupts splicing and reduces glucocerebrosidase activity.

Nature Structural & Molecular Biology · Dec 1, 2024Peer-reviewedGenetic & Genomic Medicine