Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing. Birth Defects Res A Clin Mol Teratol 2015;103(12):1003-1010.
. Gray platelet syndrome: Novel mutations of the NBEAL2 gene. Am J Hematol 2017;92(2):E20-E22.
. Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. Haematologica 2018;103(3):417-426.
. Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. Haematologica 2014;99(6):1022-31.
. Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. Biochim Biophys Acta 2014;1842(2):269-74.
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