Author

Sarah Wiethoff

University of Münster

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 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Approach:experimental assay· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Henry HouldeniD· 2 shared Abolfazl RadiD· 1 shared Adam AntebiiD· 1 shared Agueda A. RostagnoiD· 1 shared Agustí Rodríguez‐PalmeroiD· 1 shared Alan Michael PittmaniD· 1 shared Alessandro Mauro SpinelliiD· 1 shared Alexander HustinxiD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 14 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Henry HouldenORCID

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Author profile →

4 papers

Recent·Most cited

Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration

Stéphanie Efthymiou, Keisuke Tabata, Hormos Salimi Dafsari, Emil Schober, Christian Latza, Mine Isaoglu, Anwar Abuelrub, Abolfazl Rad, Zahra Firoozfar, Valentina Turchetti, Renee Q Lin, Reza Maroofian, Sarah Wiethoff, Erum Afzal, Faisal Zafar, , Henry Houlden

This study identifies RUBCN variants in neurodevelopmental disorders and shows they cause autophagy overdrive, leading to neurodegeneration.

medRxiv · Sep 1, 2026 · PreprintGenetic & Genomic Medicine

Microglia produce the amyloidogenic ABri peptide in familial British dementia

Charles Arber, Jackie M. Casey, Samuel Crawford, Naiomi Rambarack, Ümran Yaman, Sarah Wiethoff, Emma Augustin, Thomas M. Piers, Matthew Price, Agueda A. Rostagno, Jorge A. Ghiso, Patrick Alfryn Lewis, Tamás Révész, John Hardy, Jennifer M. Pocock, , Selina Wray

This study shows microglia produce ABri peptide in FBD, contributing to amyloid plaques and neurodegeneration, and suggests ITM2B/BRI2 is involved in microglial disease responses.

Acta Neuropathologica · Nov 15, 2024Peer-reviewedNeuroscience

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine J. Marchi, Pilar Caro, Ibrahim M. Abdelrazek, Jean Tori Pantel, Merle ten Hagen, Meow‐Keong Thong, Rifhan Azwani Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jingmei Li, , Miray Karakoyun

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

medRxiv · Jun 6, 2023 · PreprintGenetic & Genomic Medicine

Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia

Niccolò Emanuele Mencacci, Marisa M. Brockmann, Jinye Dai, Sander Pajusalu, Burcu Atasu, Paulina González-Latapí, Christopher Patzke, Michael Schwake, Arianna Tucci, Alan Michael Pittman, Javier Simón‐Sánchez, Gemma L. Carvill, Bettina Balint, Sarah Wiethoff, Thomas T. Warner, , Claudio Acuna

The paper identifies bi-allelic variants in TSPOAP1 as a cause of autosomal recessive dystonia, showing different clinical presentations based on variant type.

Journal of Clinical Investigation · Feb 4, 2021Peer-reviewedGenetics