Author

Thorsten Odorfer

Universitätsklinikum WürzburgORCID 0000-0001-9042-7689Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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

Frequent Co-Authors

Ai Huey TaniD· 1 shared Alberto Javier EspayiD· 1 shared Alexandra S. Rudnik· 1 shared Ana Luísa de Almeida MarcelinoiD· 1 shared Andre FrankeiD· 1 shared Andrea A. KühniD· 1 shared Andres DeikiD· 1 shared Anthony Edward LangiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ai Huey TanORCID

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1 paper

Recent·Most cited

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing

Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, , Katja Lohmann

This study uses exome sequencing to identify genetic variants in dystonia patients, finding 137 likely pathogenic variants in 51 genes and expanding the known phenotypic spectrum of dystonia-related genes.

Annals of Clinical and Translational Neurology · Jun 18, 2025Peer-reviewedGenetic & Genomic Medicine