Author

Thomas Schwarzmayr

Helmholtz Munich

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 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:database / resource· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Tim Matthias Strom· 3 shared Agnès RötigiD· 2 shared Caterina Terrile· 2 shared Christian MertesiD· 2 shared Daniele GhezziiD· 2 shared Elisabeth GrafiD· 2 shared Felix DistelmaieriD· 2 shared Holger ProkischiD· 2 shared

Activity by Year

2017-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Tim Matthias Strom

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3 papers

Recent·Most cited

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, , Holger Prokisch

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.

Genome Medicine · Apr 4, 2022Peer-reviewedGenetic & Genomic Medicine

MAU2 and NIPBL variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover a protective mechanism against early truncating mutations in NIPBL

Ilaria Parenti, Farah Diab, Sara Ruiz Gil, Eskeatnaf Mulugeta, Valentina Casà, Riccardo Berutti, Rutger W. W. Brouwer, Valérie Dupé, Juliane Eckhold, Elisabeth Graf, Beatriz Puisac, Feliciano J. Ramos, Thomas Schwarzmayr, Macarena Moronta Gines, Thomas van Staveren, , Kerstin S. Wendt

The paper investigates variants in MAU2 and NIPBL in CdLS, showing NIPBL haploinsufficiency as the main cause and revealing a protective mechanism for NIPBL out-of-frame mutations.

Cell Reports · May 1, 2020Peer-reviewedMolecular Biology

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