Concepedia

Mara Colombo

MC

Statistics

Publications

15

Citations

622

H-Index

14

Active since

1999

Affiliations

Fondazione IRCCS Istituto Nazionale dei Tumori(Current)

IFOM

European Institute of Oncology

University Hospital Cologne

Université Paris Cité

Mara Colombo is an author at Fondazione IRCCS Istituto Nazionale dei Tumori specializing in cancer genetics, genetics, and life sciences.

ORCID

Publications per year

1999–2019

15

Publications

15

<i>FANCM</i>c.5791C&gt;T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Paolo Peterlongo, Irene Catucci, Mara Colombo et al. · Human Molecular Genetics · 2015 · 96 citations · Full text

, , +17

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

, , +17

Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

Phillip J Whiley, Miguel de la Hoya, Mads Thomassen et al. · Clinical Chemistry · 2013 · 69 citations · Full text

, , +17

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

, , +17

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 · 53 citations

, , +17

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