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Nicchia E, Giordano P, Greco C, De Rocco D, Savoia A. Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing. Int J Lab Hematol 2016;38(4):412-8.\par \par Savoia A. Molecular basis of inherited thrombocytopenias. Clin Genet 2015;\par \par Verver E, Pecci A, De Rocco D, Ryh\'e4nen S, Barozzi S, Kunst H, Topsakal V, Savoia A. R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. Clin Genet 2015;88(1):85-9.\par \par Glembotsky AC, Marta RF, Pecci A, De Rocco D, Gnan C, Espasandin YR, Goette NP, Negro F, Noris P, Savoia A, Balduini CL, Molinas FC, Heller PG. International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country. J Thromb Haemost 2012;10(8):1653-61.\par \par }