Author

Sebastian Loens

University of LübeckORCID 0000-0003-3067-5239Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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 Frauke Hinrichs· 2 shared Hauke S. BuschiD· 2 shared Katja LohmanniD· 2 shared Mirja ThomseniD· 2 shared Norbert BrüggemanniD· 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

Genetic & Genomic MedicinemedRxivPreprintOct 21, 2026

A coding CAG repeat expansion in EP400 causes Spinocerebellar Ataxia

Stijn V. Weckesser, Nataša Mišković, Mirja Thomsen…·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.

DOI 10.64898/2026.10.16.26365393

humanwhole-genome sequencing

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Genetic & Genomic MedicineAnnals of Clinical and Translational NeurologyPeer-reviewedJun 18, 2025

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

Mirja Thomsen, Fabian Ott, Sebastian Loens…·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.

24 citationstop 1%

humanwhole-exome sequencing

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