Author

Ramona Hecker

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.

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Genetics· 1

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Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Andreas RumpiD· 1 shared Barbara KlinkiD· 1 shared Christine ChaponnieriD· 1 shared Denise HorniD· 1 shared Dietmar J. MansteiniD· 1 shared Evelin SchröckiD· 1 shared Jennifer A. LeeiD· 1 shared Katharina SarnowiD· 1 shared

Activity by Year

2018-2018 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Andreas RumpORCID

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1 paper

Recent·Most cited

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