Author

Michael J. Friez

Greenwood Genetic Center

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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

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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