Giovanna De Vecchi - Concepedia

Author

Giovanna De Vecchi

Fondazione IRCCS Istituto Nazionale dei Tumori

Also Known As

Giovanna De Vecchi

Publications

513

Citations

H-Index

Concepts

All Affiliations

Fondazione IRCCS Istituto Nazionale dei Tumori IFOM University Hospital Cologne University of Cologne Universitat Autònoma de Barcelona

About

Giovanna De Vecchi is an author at Fondazione IRCCS Istituto Nazionale dei Tumori specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	214
2	Pathology	4	4	214
3	Engineering	1	1	62
4	Molecular Biology	1	1	87
5	Molecular Genetics	1	1	40

Giovanna De Vecchi

Publications

411

Citations

H-Index

Page 1

	Year	Citations
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, Genetics in Medicine	2017	91
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, Human Molecular Genetics Cancer PathologyGeneticsRna SplicingGenomic MechanismMolecular Biology	2014	87
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, PLoS ONE EngineeringGeneticsPathologySplice Site VariantsGene Characterization	2013	62
Naturally occurring <i>BRCA2</i> alternative mRNA splicing events in clinically relevant samples James D. Fackenthal, Toshio F. Yoshimatsu, Bifeng Zhang, Journal of Medical Genetics	2016	52
Germline mutations of thePOU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14 Daniela Perotti, Giovanna De Vecchi, M. Testi, Human Mutation CytogeneticsGeneticsRenal PathologyPathologyMolecular Genetics	2004	40
The p53 Arg72Pro and Ins16bp polymorphisms and their haplotypes are not associated with breast cancer risk in BRCA-mutation negative familial cases Giovanna De Vecchi, Paolo Verderio, Sara Pizzamiglio, Cancer Detection and Prevention Breast Cancer RiskCancer RiskMedicineGeneticsGenetic Epidemiology	2008	25
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, Cancers	2019	24
The <i>BRCA2</i> c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity Mara Colombo, Irene López‐Perolio, Huong Meeks, Human Mutation	2018	20
The Murine Pou6f2 Gene is Temporally and Spatially Regulated During Kidney Embryogenesis and its Human Homolog is Overexpressed in a Subset of Wilms Tumors Francesca Di Renzo, Luisa Doneda, Elena Menegola, Journal of Pediatric Hematology/Oncology	2006	10

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