Publicacións en colaboración con investigadores/as de Beth Israel Deaconess Medical Center (43)

2022

  1. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

    Communications biology, Vol. 5, Núm. 1, pp. 1061

  2. Erratum: Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (European journal of human genetics : EJHG (2022) 30 3 (349-362))

    European journal of human genetics : EJHG

  3. Mapping genomic loci implicates genes and synaptic biology in schizophrenia

    Nature, Vol. 604, Núm. 7906, pp. 502-508

  4. Polygenic risk modeling for prediction of epithelial ovarian cancer risk

    European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362

  5. Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries (Nature, (2022), 611, 7934, (115-123), 10.1038/s41586-022-05165-3)

    Nature

  6. Stroke genetics informs drug discovery and risk prediction across ancestries

    Nature, Vol. 611, Núm. 7934, pp. 115-123

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. Deciphering the complex interplay between pancreatic cancer, diabetes mellitus subtypes and obesity/BMI through causal inference and mediation analyses

    Gut, Vol. 70, Núm. 2, pp. 319-329

  3. Epithelial-to-mesenchymal transition mediates resistance to maintenance therapy with vinflunine in advanced urothelial cell carcinoma

    Cancers, Vol. 13, Núm. 24

  4. 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

  5. Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight

    eLife, Vol. 10

  6. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

    Genetics in Medicine, Vol. 23, Núm. 9, pp. 1726-1737

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

  2. Complement genes contribute sex-biased vulnerability in diverse disorders

    Nature, Vol. 582, Núm. 7813, pp. 577-581

  3. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Nature Genetics, Vol. 52, Núm. 1, pp. 56-73

  4. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

    Nature Genetics, Vol. 52, Núm. 6, pp. 572-581

  5. 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

  6. Repositioning of the global epicentre of non-optimal cholesterol

    Nature, Vol. 582, Núm. 7810, pp. 73-77

2019

  1. BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry

    Human Mutation, Vol. 40, Núm. 10, pp. 1781-1796

  2. Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

    Nature Genetics, Vol. 51, Núm. 4, pp. 659-674