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Bottega R, Nicchia E, Cappelli E, Ravera S, De Rocco D, Faleschini M, Corsolini F, Pierri F, Calvillo M, Russo G, Casazza G, Ramenghi U, Farruggia P, Dufour C, Savoia A. Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. Haematologica 2018;103(3):417-426.\par \par Ravera S, Dufour C, Cesaro S, Bottega R, Faleschini M, Cuccarolo P, Corsolini F, Usai C, Columbaro M, Cipolli M, Savoia A, Degan P, Cappelli E. Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome. Sci Rep 2016;6:25441.\par \par Svahn J, Bagnasco F, Cappelli E, Onofrillo D, Caruso S, Corsolini F, De Rocco D, Savoia A, Longoni D, Pillon M, Marra N, Ramenghi U, Farruggia P, Locasciulli A, Addari C, Cerri C, Mastrodicasa E, Casazza G, Verzegnassi F, Riccardi F, Haupt R, Barone A, Cesaro S, Cugno C, Dufour C. Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Associ. Am J Hematol 2016;91(7):666-71.\par \par De Rocco D, Bottega R, Cappelli E, Cavani S, Criscuolo M, Nicchia E, Corsolini F, Greco C, Borriello A, Svahn J, Pillon M, Mecucci C, Casazza G, Verzegnassi F, Cugno C, Locasciulli A, Farruggia P, Longoni D, Ramenghi U, Barberi W, Tucci F, Perrotta S, Grammatico P, Hanenberg H, Ragione FDella, Dufour C, Savoia A. 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.\par \par }