Author

Mathieu Anheim

Centre National de la Recherche ScientifiqueORCID 0000-0001-8121-0605Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Agatha SchlüterORCID

Mutual co-authors in cluster

Author profile →

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

𝕏 PostBluesky