Author

Birgit Weiß

University Hospital Heidelberg

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Biology Disciplines

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Genetic & Genomic Medicine· 1

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Organism:human· 1

Frequent Co-Authors

Bjoern Saemann· 1 shared Johann Georg MaaßiD· 1 shared Jonas Bohnlein· 1 shared Katharina Obeid· 1 shared Katrin HinderhoferiD· 1 shared Maja HempeliD· 1 shared Sebastian SaileriD· 1 shared Sebastian Schroeder· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Bjoern Saemann

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1 paper

Recent·Most cited

Recessive loss-of-function and dominant gain-of-function variants in FBXO31 are associated with distinct neurodevelopmental disorders

Jonas Bohnlein, Birgit Weiß, Steffen Hirsch, Johann Georg Maaß, Katharina Obeid, Katrin Hinderhofer, Sebastian Schroeder, Bjoern Saemann, Maja Hempel, Sebastian Sailer

The paper identifies two distinct FBXO31 variants causing different neurodevelopmental disorders: a dominant gain-of-function variant and a recessive loss-of-function deletion.

medRxiv · Sep 30, 2026 · PreprintGenetic & Genomic Medicine