MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat 2014;35(2):236-47.
. MYH9: Structure, functions and role of non-muscle myosin IIA in human disease. Gene 2018;664:152-167.
. MYH9 gene mutations associated with bleeding. Platelets 2017;28(3):312-315.
. Mutations of RUNX1 in families with inherited thrombocytopenia. Am J Hematol 2017;92(6):E86-E88.
. Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. Biochim Biophys Acta 2014;1842(2):269-74.
. 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.
. . . Loss-of-function mutations in cause a new form of inherited thrombocytopenia. Blood 2019;133(12):1346-1357.
. Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. Haematologica 2018;103(3):417-426.
. Gray platelet syndrome: Novel mutations of the NBEAL2 gene. Am J Hematol 2017;92(2):E20-E22.
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