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D. J. Perry

Researcher at Cambridge University Hospitals NHS Foundation Trust

Publications -  28
Citations -  2085

D. J. Perry is an academic researcher from Cambridge University Hospitals NHS Foundation Trust. The author has contributed to research in topics: Haemophilia & Haemophilia A. The author has an hindex of 20, co-authored 28 publications receiving 1912 citations. Previous affiliations of D. J. Perry include University College London.

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A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

Ernest Turro, +64 more
TL;DR: In patients with myelofibrosis, this SRC mutation was associated with increased outgrowth of myeloid and megakaryocyte colonies, with abnormal platelet production, which could be rescued by SRC kinase inhibition, which may be important for understanding the severe bleeding in cancer patients treated with Src family kinase inhibitors.
Journal ArticleDOI

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

Sarah K Westbury, +60 more
- 09 Apr 2015 - 
TL;DR: These findings validate the novel HPO-based phenotype clustering methodology for known BPD, thus providing a new discovery tool for BPD of unknown genetic basis.