Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Università de Roma La Sapienza
Roma, ItaliaPublicacións en colaboración con investigadores/as de Università de Roma La Sapienza (18)
2023
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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Clinical cancer research : an official journal of the American Association for Cancer Research, Vol. 29, Núm. 16, pp. 3037-3050
2022
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Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility
Nature Genetics, Vol. 54, Núm. 9, pp. 1275-1283
2021
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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Nature Communications, Vol. 12, Núm. 1
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Erratum: Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (Nature communications (2021) 12 1 (1078))
Nature communications
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
2019
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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
npj Breast Cancer, Vol. 5, Núm. 1
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
2017
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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Nature Genetics, Vol. 49, Núm. 5, pp. 680-691
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778
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Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection
International Journal of Legal Medicine, Vol. 131, Núm. 5, pp. 1211-1219
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The oncoarray consortium: A network for understanding the genetic architecture of common cancers
Cancer Epidemiology Biomarkers and Prevention, Vol. 26, Núm. 1, pp. 126-135
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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Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: A study in Spanish and Italian populations and meta-analysis
Arthritis and Rheumatism, Vol. 63, Núm. 7, pp. 1860-1865
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International distribution and age estimation of the Portuguese BRCA2 c.156-157insAlu founder mutation
Breast Cancer Research and Treatment, Vol. 127, Núm. 3, pp. 671-679
2010
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Identification of a novel MYBPC3 gene variant in a patient with hypertrophic cardiomyopathy
Annals of Clinical and Laboratory Science, Vol. 40, Núm. 3, pp. 285-289
2004
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Quantitative assessment of PML-RARa and BCR-ABL by two real-time PCR instruments: Multiinstitutional laboratory trial
Clinical Chemistry, Vol. 50, Núm. 6, pp. 1088-1092
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The African Diaspora: Mitochondrial DNA and the Atlantic Slave Trade
American Journal of Human Genetics, Vol. 74, Núm. 3, pp. 454-465