Loss-of-function mutations in cause a new form of inherited thrombocytopenia. Blood 2019;133(12):1346-1357.
. ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. Br J Haematol 2018;183(2):276-288.
. 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.
. .
ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization. Blood 2015;125(5):869-72.
. Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. Haematologica 2014;99(8):1387-94.
.