Author

Frauke Hinrichs

University Hospital Schleswig-Holstein

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ai Huey TaniD· 2 shared Christine KleiniD· 2 shared Hauke S. BuschiD· 2 shared Katja LohmanniD· 2 shared Mirja ThomseniD· 2 shared Norbert BrüggemanniD· 2 shared Sebastian LoensiD· 2 shared Alberto Javier EspayiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ai Huey TanORCID

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2 papers

Recent·Most cited

A coding CAG repeat expansion in EP400 causes Spinocerebellar Ataxia

Stijn V. Weckesser, Nataša Mišković, Mirja Thomsen, Marius Möller, Andona Milovanović, Frauke Hinrichs, Max Borsche, Andreas Dalski, Ana L. de Almeida Marcelino, Soren Franzenburg, Vladimir Kostić, Nikola D. Kresojević, Shen-Yang Lim, Sebastian Loens, Ana Marjanović, , Katja Lohmann

This study identifies a CAG repeat expansion in EP400 as a novel cause of spinocerebellar ataxia in Serbian patients, with an inverse correlation between repeat number and age at onset.

medRxiv · Oct 21, 2026 · PreprintGenetic & Genomic Medicine

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