Author

Ralf Knöfler

Technische Universität Dresden

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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Genetics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:DNA methylation· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Andreas RumpiD· 1 shared Barbara KlinkiD· 1 shared Ceren GüneşiD· 1 shared Christine ChaponnieriD· 1 shared Denise HorniD· 1 shared Dietmar J. MansteiniD· 1 shared Evelin SchröckiD· 1 shared Felix LansingiD· 1 shared

Activity by Year

2018-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Andreas RumpORCID

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2 papers

Recent·Most cited

Correction of a Factor VIII genomic inversion with designer-recombinases

Felix Lansing, Liliya Rinatovna Mukhametzyanova, Teresa Rojo Romanos, Kentaro Iwasawa, Masaki Kimura, Maciej Paszkowski‐Rogacz, Janet Karpinski, Tobias Graß, Jan Sonntag, Paul Martin Schneider, Ceren Güneş, Jenna Hoersten, Lukas Theo Schmitt, Natalia Rodríguez‐Muela, Ralf Knöfler, , Frank Buchholz

This study corrects a 140 kb genomic inversion in the F8 gene using a designer recombinase system, restoring Factor VIII mRNA expression in patient-derived cells.

Nature Communications · Jan 20, 2022Peer-reviewedMolecular Biology

Thrombocytopenia Microcephaly Syndrome - a novel phenotype associated with ACTB mutations

Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael Christoph Frühwald, Kerstin Becker, Teresa Neuhann, Denise Horn, Evelin Schröck, Katharina Sarnow, Konrad Grützmann, , 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.

bioRxiv · Apr 18, 2018 · PreprintGenetics