Sarah K Westbury

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

Sylvia Richardson, Augusto Rendon, Sjoert B. G. Jansen, 2015, Genome Medicine.

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

William J. Astle, Sylvia Richardson, Kathleen Stirrups, 2016, Blood.

Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.

Wendy N Erber, Chantal Thys, Kate Downes, 2018, Blood advances.