Research
As part of the NIHR BioResource study my interest is to develop new clinical diagnostic tools taking advantage of the latest technologies including Next Generation Sequencing (NGS) to screen patients and understand the genetic causes of diseases. My research focuses on patients with cardiovascular, platelet, bleeding, thrombotic and immune disorders.
This project aims to bring tangible benefits to both patients who will receive a conclusive molecular diagnosis and to Clinicians who will have a clearer choice for the most appropriate and effective treatment.
Publications
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Simeoni I. et al. Blood 2016
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Turro E. et al. Sci Transl Med. 2016
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Stritt S.et al Blood 2016
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
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Westbury SK et al., Genome Medicine, 2015
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Chen L et al, Science, 2014
Transcriptional diversity during lineage commitment of human blood progenitors.
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Movassagh M et al, Circulation, 2011
Distinct epigenomic features in end-stage failing human hearts.
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Simeoni I and JB Gurdon, Dev. Biol, 2007
Interpretation of BMP signaling in early Xenopus development.
