Author

Max Borsche

University of LübeckORCID 0000-0002-9651-5986Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Research Focus:differential expression· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Christine KleiniD· 4 shared Norbert BrüggemanniD· 4 shared Ana WestenbergeriD· 3 shared Inke Regina KönigiD· 3 shared Katja LohmanniD· 3 shared Andona MilovanovićiD· 2 shared Andrew A. HicksiD· 2 shared Björn‐Hergen LaabsiD· 2 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Christine KleinORCID

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4 papers

Recent·Most cited

A coding CAG repeat expansion in EP400 causes Spinocerebellar Ataxia

Stijn V. Weckesser, Nataša Mišković, Mirja Thomsen, Marius Möller, Andona Milovanović, Frauke Hinrichs, Max Borsche, Andreas Dalski, Ana L. de Almeida Marcelino, Soren Franzenburg, Vladimir Kostić, Nikola D. Kresojević, Shen-Yang Lim, Sebastian Loens, Ana Marjanović, , Katja Lohmann

This study identifies a CAG repeat expansion in EP400 as a novel cause of spinocerebellar ataxia in Serbian patients, with an inverse correlation between repeat number and age at onset.

medRxiv · Oct 21, 2026 · PreprintGenetic & Genomic Medicine

An improved polygenic score for Parkinson's disease partly explains variable penetrance of genetic Parkinson's disease

Sebastian Sendel, Zied Landoulsi, Katja Lohmann, Björn‐Hergen Laabs, Meike Kasten, Eva‐Juliane Vollstedt, Tatiana Usnich, Alexander Balck, Daniela Berg, Dheeraj Reddy Bobbili, Max Borsche, André Franke, Henrike Hanßen, Emadeldin Hassanin, Andrew A. Hicks, , Amke Caliebe

The paper develops an improved polygenic score for idiopathic Parkinson's disease, showing higher discriminative performance and explaining variable penetrance in genetic forms of the disease.

medRxiv · Feb 28, 2025 · PreprintGenetic & Genomic Medicine

FGF14 repeat length and mosaic interruptions: modifiers of SCA27B?

Joshua Laß, Mirja Thomsen, Max Borsche, Theresa Lüth, Julia C. Prietzsche, Susen Schaake, Andona Milovanović, Hannah L. Macpherson, Emil Karl Gustavsson, Paula Saffie Awad, Nataša Mišković, Björn‐Hergen Laabs, Inke Regina König, Ana Westenberger, Christopher E. Pearson, , Joanne Trinh

The paper investigates FGF14 repeat interruptions in ataxia patients and unaffected individuals, finding that mosaic interruptions (mDRILS) correlate with age at onset and affect pathogenicity.

medRxiv · Nov 21, 2024 · PreprintGenetic & Genomic Medicine

Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1- and PRKN-linked Parkinson's disease

Joanne Trinh, Andrew A. Hicks, Inke Regina König, Sylvie Delcambre, Theresa Lüth, Susen Schaake, Kobi Wasner, Jenny Ghelfi, Max Borsche, Carles Vilariño‐Güell, Fayçel Hentati, Elisabeth Luisa Germer, Peter Bauer, Masashi Takanashi, Vladimir Kostić, , Anne Grünewald

The paper identifies mitochondrial DNA heteroplasmy as a marker distinguishing disease manifestation in PINK1/PRKN mutation carriers.

Brain · Dec 7, 2022Peer-reviewedGenetic & Genomic Medicine