Author

Claudia Foglia

Observed names: C. Foglia, Foglia, Claudia

Institution: Fondazione IRCCS Istituto Nazionale dei Tumori

Observed institution: Fondazione IRCCS Istituto Nazionale dei Tumori

ORCID: 0000-0002-5505-7667

Observed ORCID: 0000-0002-5505-7667

OpenAlex ID: A5000971804

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

2014 · Mara Colombo, Marinus J. Blok, et al. · Human Molecular Genetics · 90

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

2013 · Mara Colombo, Giovanna De Vecchi, et al. · PLoS ONE · 58

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

2014 · Irene Catucci, Paolo Peterlongo, et al. · Genetics in Medicine · 28

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

2019 · Elisa Gelli, Mara Colombo, et al. · Cancers · 25

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

2014 · Laura Caleca, Anna Laura Putignano, et al. · PLoS ONE · 24

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

2018 · Mara Colombo, Irene Lòpez-Perolio, et al. · Human Mutation · 21

An unusual BRCA2 allele carrying two splice site mutations

2009 · M. Colombo, C.B. Ripamonti, et al. · Annals of Oncology · 11

A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report

2023 · Mara Colombo, Patrizia Mondini, et al. · Frontiers in Oncology · 4

Corrigendum: A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: a case report

2023 · Mara Colombo, Patrizia Mondini, et al. · Frontiers in Oncology

Works count: 12

Citation count: 261

H-index: 7

I10-index: 7