Claudia Foglia

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

PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo

Irene Catucci, Paolo Peterlongo, Sara Ciceri et al. · Genetics in Medicine · 2014 · 27 citations · Full text

Breast Oncology, Somatic Variant, Medicine +11

Characterization of an Italian Founder Mutation in the RING-Finger Domain of BRCA1

Laura Caleca, Anna Laura Putignano, Mara Colombo et al. · PLoS ONE · 2014 · 24 citations · Full text

Ring-finger Domain, Cytogenetics, Genetics +17

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance

Elisa Gelli, Mara Colombo, Anna Maria Pinto et al. · Cancers · 2019 · 24 citations · Full text