Author

Yorck Hellenbroich

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· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexander Erich VolkiD· 1 shared Alexander Maximilian MünchauiD· 1 shared Alma Kuechler· 1 shared Almuth CaliebeiD· 1 shared Amelie T. van der VeniD· 1 shared André FrankeiD· 1 shared Andreas Dalski· 1 shared Andreas MerkenschlageriD· 1 shared

Activity by Year

2019-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander Erich VolkORCID

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2 papers

Recent·Most cited

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

Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

Benjamin Büttner, Sonja Martin, Anja Finck, Maria Arélin, Carolin Baade‐Büttner, Tobias Bartolomaeus, Peter O. Bauer, Astrid Bertsche, Matthias Karl Bernhard, Saskia Biskup, Nataliya Di Donato, Magdeldin Elgizouli, Roland Ewald, Constanze Heine, Yorck Hellenbroich, , Rami Abou Jamra

The paper evaluates negative exome sequencing in neurodevelopmental disorders by systematically scoring candidate genes to improve prioritization and validation.

bioRxiv · Mar 26, 2019 · PreprintGenetics