Author

Birgit M. Repp

TUM Klinikum

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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Genetics· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Agnès RötigiD· 1 shared Alice Donati· 1 shared Anne LombèsiD· 1 shared Arcangela IusoiD· 1 shared Benoît FunalotiD· 1 shared Caterina Terrile· 1 shared Christian MertesiD· 1 shared Christoph Leonhardt· 1 shared

Activity by Year

2017-2017 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Agnès RötigORCID

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1 paper

Recent·Most cited

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura Sophie Kremer, Daniel M. Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B. Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile, Eliška Koňaříková, Birgit M. Repp, Gabi Kastenmüller, Jerzy Adamski, Peter Lichtner, , Holger Prokisch

This study uses RNA sequencing to identify genetic diagnoses in mitochondrial disease patients by detecting aberrant gene expression and splicing events.

Nature Communications · Jun 12, 2017Peer-reviewedGenetics