Publicacións en colaboración con investigadores/as de Università de Roma La Sapienza (18)

2023

  1. 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

  1. 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

  1. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

    Nature Communications, Vol. 12, Núm. 1

  2. 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

  1. 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

  1. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

    npj Breast Cancer, Vol. 5, Núm. 1

2018

  1. 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

  1. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

    Nature Genetics, Vol. 49, Núm. 5, pp. 680-691

  2. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

  3. 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

  4. 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

  1. 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

  1. 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

  1. 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

  2. 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

  1. 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

  1. 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

  2. The African Diaspora: Mitochondrial DNA and the Atlantic Slave Trade

    American Journal of Human Genetics, Vol. 74, Núm. 3, pp. 454-465