Author

Ulla Roggenbuck

University of Duisburg-Essen

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· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Agatha SchlüteriD· 1 shared Andreas Gustafsson ThiemeiD· 1 shared Aurora PujoliD· 1 shared Carlos CasasnovasiD· 1 shared Christel DepienneiD· 1 shared Christopher SchröderiD· 1 shared Dagmar TimmanniD· 1 shared Elsa LeitãoiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Agatha SchlüterORCID

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1 paper

Recent·Most cited

Advancing molecular, phenotypic and mechanistic insights of FGF14 pathogenic expansions (SCA27B)

Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, Georg Sebastian Hönes, Sabine Kaya, Christopher Schröder, Andreas Gustafsson Thieme, Marc Sturm, Joohyun Park, Agatha Schlüter, Montserrat Ruíz, Moisés Morales de la Prida, Carlos Casasnovas, Kerstin Becker, , Christel Depienne

This study identifies the complete sequences of pathogenic and non-pathogenic FGF14 repeat expansions in patients with cerebellar ataxia, revealing a lower pathogenic threshold and providing mechanistic insights into disease causation.

Nature Communications · Sep 3, 2024Peer-reviewedGenetic & Genomic Medicine