Publicacións en colaboración con investigadores/as de University of Pennsylvania (17)

2023

  1. Genetically proxied glucose-lowering drug target perturbation and risk of cancer: a Mendelian randomisation analysis

    Diabetologia, Vol. 66, Núm. 8, pp. 1481-1500

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

2020

  1. Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus

    Circulation: Genomic and Precision Medicine, Vol. 13, Núm. 6, pp. E002769

  2. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

    Genetics in Medicine, Vol. 22, Núm. 10, pp. 1653-1666

2019

  1. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

    Nature Communications, Vol. 10, Núm. 1

  2. 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

  3. Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

    Nature Genetics, Vol. 51, Núm. 5, pp. 804-814

  4. Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature Communications, (2019), 10, 1, (431), 10.1038/s41467-018-08054-4)

    Nature Communications

  5. Shared heritability and functional enrichment across six solid cancers

    Nature Communications, Vol. 10, Núm. 1

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

    npj Breast Cancer, Vol. 5, Núm. 1

2018

  1. Erratum to: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition (Nature Genetics, (2018), 50, 4, (572-580), 10.1038/s41588-018-0088-x)

    Nature Genetics

  2. 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

  3. Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

    Nature Genetics, Vol. 50, Núm. 4, pp. 572-580

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

2016

  1. Genome-wide associations for birth weight and correlations with adult disease

    Nature, Vol. 538, Núm. 7624, pp. 248-252

2014

  1. Radiogenomics: Radiobiology enters the era of big data and team science

    International Journal of Radiation Oncology Biology Physics