A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disordersIlenia Simeoni, Carolyn M. Millar, Sarah K. Westbury et al.|Blood|2016Cited by 184
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing lossSimon Stritt, Andrew Mumford, Paquita Nurden et al.|Blood|2016Cited by 156
A dominant gain-of-function mutation in universal tyrosine kinase <i>SRC</i> causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologiesErnest Turro, Willem H. Ouwehand, Daniel Greene et al.|Science Translational Medicine|2016Cited by 144
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disordersSarah K. Westbury, Kathleen Freson, Ernest Turro et al.|Genome Medicine|2015Cited by 125
Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factorAnne Riddell, Thomas A. J. McKinnon, Keith Gomez et al.|Blood|2009Cited by 97