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Faleschini M, Melazzini F, Marconi C, Giangregorio T, Pippucci T, Cigalini E, Pecci A, Bottega R, Ramenghi U, Siitonen T, Seri M, Pastore A, Savoia A, Noris P. ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. Br J Haematol 2018;183(2):276-288.\par \par Farruggia P, Puccio G, Fioredda F, Lanza T, Porretti L, Ramenghi U, Barone A, Bonanomi S, Finocchi A, Ghilardi R, Ladogana S, Marra N, Martire B, Notarangelo LDora, Onofrillo D, Pillon M, Russo G, Valvo LLo, Serafinelli J, Tucci F, Zunica F, Verzegnassi F, Dufour C. Autoimmune neutropenia of childhood secondary to other autoimmune disorders: Data from the Italian neutropenia registry. Am J Hematol 2017;92(9):E546-E549.\par \par Bottega R, Marconi C, Faleschini M, Baj G, Cagioni C, Pecci A, Pippucci T, Ramenghi U, Pardini S, Ngu L, Baronci C, Kunishima S, Balduini CL, Seri M, Savoia A, Noris P. ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization. Blood 2015;125(5):869-72.\par \par Randi ML, Geranio G, Bertozzi I, Micalizzi C, Ramenghi U, Tucci F, Notarangelo LD, Ladogana S, Menna G, Giordano P, Consarino C, Farruggia P, Zanazzo GA, Fiori GM, Burnelli R, Russo G, Jankovich M, Peroni E, Duner E, Basso G, Fabris F, Putti MC. Are all cases of paediatric essential thrombocythaemia really myeloproliferative neoplasms? Analysis of a large cohort. Br J Haematol 2015;169(4):584-9.\par \par Pecci A, Biino G, Fierro T, Bozzi V, Mezzasoma A, Noris P, Ramenghi U, Loffredo G, Fabris F, Momi S, Magrini U, Pirastu M, Savoia A, Balduini C, Gresele P. Alteration of liver enzymes is a feature of the MYH9-related disease syndrome. PLoS One 2012;7(4):e35986.\par \par }