Author

Sarah Schuhmann

Friedrich-Alexander-Universität Erlangen-NürnbergORCID 0000-0002-6775-3547Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Alexia BourgoisiD· 2 shared Boris KereniD· 2 shared Frédéric Tran Mau‐ThemiD· 2 shared Georgia VasileiouiD· 2 shared Abigail TurnwaldiD· 1 shared Adeline JacquinetiD· 1 shared Allan Micheil InnesiD· 1 shared Amanda Carnevale· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexia BourgoisORCID

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2 papers

Recent·Most cited

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Michelle Hua, Mohamad‐Reza Aghanoori, Melissa J MacPherson, Yi Ren, Yifan Yang, Yan Yan Or, Laura Williams, Christopher J. Gafuik, Chloé Quēlin, Boris Keren, Sarah Schuhmann, Georgia Vasileiou, Alexia Bourgois, Antonio Vitobello, Christophe Philippe, , Guang Yang

The paper identifies CELF2 variants causing cytoplasmic mislocalization linked to neuronal hyperexcitability, learning deficits, and seizures.

medRxiv · Jun 20, 2025 · PreprintGenetic & Genomic Medicine

Adaptor protein 2 sigma subunit (AP2S1) variants associated with neurodevelopmental disorders

Mark Stevenson, Asha L. Bayliss, Victoria J. Stokes, Katherine A. English, Kreepa G. Kooblall, Roman Fischer, Raphael Heilig, Iolanda Vendrell, Maria E. W. A. Albers, Meghan N. Bartos, Amber Hogart Begtrup, Alexia Bourgois, Rebecca Buchert, David J. Carey, Deanna Alexis Carere, , Rajesh V. Thakker

The paper identifies AP2S1 variants linked to neurodevelopmental disorders by showing they impair clathrin-mediated endocytosis and disrupt protein interactions.

medRxiv · Jul 22, 2024 · PreprintGenetic & Genomic Medicine