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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
2017 · Irene Catucci, Ana Osorio, et al. · Genetics in Medicine · 96
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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
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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
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Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples
2016 · James D Fackenthal, Toshio Yoshimatsu, et al. · Journal of Medical Genetics · 55
Germline mutations of thePOU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14
2004 · Daniela Perotti, Giovanna De Vecchi, et al. · Human Mutation · 40
Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines
2013 · Logan C. Walker, Phillip J. Whiley, et al. · Human Mutation · 36
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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
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Evidences for association of the CASP8 -652 6N del promoter polymorphism with age at diagnosis in familial breast cancer cases
2008 · Giovanna De Vecchi, Paolo Verderio, et al. · Breast Cancer Research and Treatment · 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
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The p53 Arg72Pro and Ins16bp polymorphisms and their haplotypes are not associated with breast cancer risk in BRCA-mutation negative familial cases
2008 · Giovanna De Vecchi, Paolo Verderio, et al. · Cancer Detection and Prevention · 21
Mixed Neuroendocrine/Non-neuroendocrine Neoplasm (MiNEN) of the Ovary Arising from Endometriosis: Molecular Pathology Analysis in Support of a Pathogenetic Paradigm
2021 · Roberta Maragliano, Laura Libera, et al. · Endocrine Pathology · 11
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Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy
2021 · Gisella Figlioli, Arcangela De Nicolo, et al. · Cancers · 10
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The Murine Pou6f2 Gene is Temporally and Spatially Regulated During Kidney Embryogenesis and its Human Homolog is Overexpressed in a Subset of Wilms Tumors
2006 · Francesca Di Renzo, Luisa Doneda, et al. · Journal of Pediatric Hematology/Oncology · 10
De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?
2023 · Clorinda Brignola, Sara Volorio, et al. · Tumori Journal · 8
Bilateral preaxial polydactyly in a WAGR syndrome patient
2005 · Siranoush Manoukian, John A. Crolla, et al. · American Journal of Medical Genetics Part A · 7
Non‐chromosome 11‐p syndromes in Wilms tumor patients: Clinical and cytogenetic report of two Down syndrome cases and one Turner syndrome case
2006 · Filippo Spreafico, Monica Terenziani, et al. · American Journal of Medical Genetics Part A · 6
Wilms Tumor in Monozygous Twins
2005 · Daniela Perotti, Giovanna De Vecchi, et al. · Journal of Pediatric Hematology/Oncology · 3
Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma
2020 · Jacopo Azzollini, Elisabetta Schiavello, et al. · Cancers · 1
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De Novo Germline Partial Deletion of The MLH1 Gene in a 26-Year-Old Woman with Synchronous Colorectal Adenocarcinoma and Neuroendocrine Tumor of the Appendix
2023 · Clorinda Brignola, Sara Volorio, et al. · SSRN Electronic Journal
Works count: 25
Citation count: 521
H-index: 11
I10-index: 13
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