ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. Br J Haematol 2018;183(2):276-288.
. ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization. Blood 2015;125(5):869-72.
. .
Loss-of-function mutations in cause a new form of inherited thrombocytopenia. Blood 2019;133(12):1346-1357.
. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 2011;117(24):6673-80.
. Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet 2011;88(1):115-20.
. Mutations of RUNX1 in families with inherited thrombocytopenia. Am J Hematol 2017;92(6):E86-E88.
. . A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene. Br J Haematol 2018;181(5):698-701.
. Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. Blood 2014;124(6):e4-e10.
.