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.
. Defects in mitochondrial energetic function compels Fanconi Anaemia cells to glycolytic metabolism. Biochim Biophys Acta Mol Basis Dis 2017;1863(6):1214-1221.
. .
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. Haematologica 2018;103(3):417-426.
. Impaired immune response to Candida albicans in cells from Fanconi anemia patients. Cytokine 2015;73(1):203-7.
. .
.
Unusual splice site mutations disrupt FANCA exon 8 definition. Biochim Biophys Acta 2014;1842(7):1052-8.
.