Fundación Pública Galega de Medicina Xenómica
Centro de investigación
University of Modena and Reggio Emilia
Módena, ItaliaPublicacións en colaboración con investigadores/as de University of Modena and Reggio Emilia (7)
2020
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Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
JAMA Oncology, Vol. 6, Núm. 8, pp. 1218-1230
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The spectrum of fancm protein truncating variants in European breast cancer cases
Cancers, Vol. 12, Núm. 2
2019
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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Human Mutation, Vol. 40, Núm. 9, pp. 1557-1578
2018
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Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and breast/ovarian) cancer susceptibility genes: An international survey by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) clinical working group
JCO Precision Oncology, Vol. 2
2014
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The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics
Electrophoresis, Vol. 35, Núm. 21-22, pp. 3134-3144
2012
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The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269
Proceedings of the Royal Society B: Biological Sciences, Vol. 279, Núm. 1730, pp. 884-892
2011
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Genetic variants related to nicotine dependence
Forensic Science International: Genetics Supplement Series, Vol. 3, Núm. 1