Author

Teresa Neuhann

Medical Genetics CenterORCID 0000-0002-7731-7335Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Andreas RumpiD· 1 shared Angela AbichtiD· 1 shared Anna Benet‐PagèsiD· 1 shared Ariane HallermayriD· 1 shared Barbara KlinkiD· 1 shared Caroline HeintziD· 1 shared Christine ChaponnieriD· 1 shared Christine Dineiger· 1 shared

Activity by Year

2018-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetics

Andreas RumpORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintNov 5, 2024

Parallel in-depth analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cells

Veronika Scholz, Veronika Schönrock, Hannes Erdmann…·Morghan C. Lucas

The paper updates the Clin-CATS workflow to analyze repeat expansions using Oxford Nanopore R10 flow cells, expanding gene panels and improving detection of complex repeats.

7 citations

humanlong-read sequencing

GeneticsbioRxivPreprintApr 18, 2018

Thrombocytopenia Microcephaly Syndrome - a novel phenotype associated with ACTB mutations

Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke…·Nataliya Di Donato

The paper reports a new clinical syndrome linked to ACTB mutations, characterized by thrombocytopenia, microcephaly, and developmental disability, and identifies altered cytoskeletal interactions in affected cells.

DOI 10.1101/303909

humanstatistical model