Author

Thomas Wirth

Centre National de la Recherche ScientifiqueORCID 0000-0002-4427-5765Unclaimed ORCID profile · follow to get notified of new preprints

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

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedSep 3, 2024

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

Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão…·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.

47 citationstop 1%

humanwhole-genome sequencing

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