A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing lossSimon Stritt, Andrew Mumford, Sandrine Marlin 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
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with SeizuresYoko Itō, Helen Dolling, Keren Carss et al.|The American Journal of Human Genetics|2018Cited by 48