Giovanna De Vecchi

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

Irene Catucci, Ana Osório, Brita Arver et al. · Genetics in Medicine · 2017 · 91 citations · Full text

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Mara Colombo, Marinus J. Blok, Phillip J Whiley et al. · Human Molecular Genetics · 2014 · 87 citations · Full text

Cancer Pathology, Genetics, Rna Splicing +20

Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations

Mara Colombo, Giovanna De Vecchi, Laura Caleca et al. · PLoS ONE · 2013 · 62 citations · Full text

Engineering, Genetics, Pathology +18

Naturally occurring <i>BRCA2</i> alternative mRNA splicing events in clinically relevant samples

James D. Fackenthal, Toshio F. Yoshimatsu, Bifeng Zhang et al. · Journal of Medical Genetics · 2016 · 52 citations

Germline mutations of thePOU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14

Daniela Perotti, Giovanna De Vecchi, M. Testi et al. · Human Mutation · 2004 · 40 citations

Cytogenetics, Genetics, Renal Pathology +19