Author

Vincent Arriens

Christian-Albrechts-Universität zu Kiel

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

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Approach:experimental assay· 2 Research Focus:variant calling· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Almuth CaliebeiD· 2 shared Britta Hanker· 2 shared Caroline Utermann-ThüsingiD· 2 shared Daniel KaschtaiD· 2 shared Inga NageliD· 2 shared Inga Vater· 2 shared Malte SpielmanniD· 2 shared Abolfazl RadiD· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Almuth CaliebeORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration

Stéphanie Efthymiou, Keisuke Tabata, Hormos Salimi Dafsari, Emil Schober, Christian Latza, Mine Isaoglu, Anwar Abuelrub, Abolfazl Rad, Zahra Firoozfar, Valentina Turchetti, Renee Q Lin, Reza Maroofian, Sarah Wiethoff, Erum Afzal, Faisal Zafar, , Henry Houlden

This study identifies RUBCN variants in neurodevelopmental disorders and shows they cause autophagy overdrive, leading to neurodegeneration.

medRxiv · Sep 1, 2026 · PreprintGenetic & Genomic Medicine

AUTOMATED VERSUS MANUAL REANALYSIS IN RARE DISEASE GENOMICS

Daniel Kaschta, Vincent Arriens, Simon Mueller, Caroline Utermann-Thüsing, Genom-RD, Inga Vater, Almuth Caliebe, Inga Nagel, Malte Spielmann

The paper compares automated and manual reanalysis of rare disease genome sequencing data, finding automated methods achieve similar results with less effort.

medRxiv · May 19, 2026 · PreprintGenetic & Genomic Medicine

Evaluating Genome Sequencing Strategies: Trio, Singleton, and Standard Testing in Rare Disease Diagnosis

Daniel Kaschta, Christina Post, Franziska Gaass, Milad Al-Tawil, Vincent Arriens, Saranya Balachandran, Tobias Bäumer, Valerie Berge, Friederike Birgel, Andreas Dalski, Maike Dittmar, André Franke, Sören Franzenburg, Janina Fuß, Bettina Gehring, , Malte Spielmann

This study compares trio, singleton, and standard genome sequencing in rare disease diagnosis, finding trio sequencing has the highest diagnostic yield.

Genome Medicine · Sep 17, 2025Peer-reviewedGenetic & Genomic Medicine