Publicacións en colaboración con investigadores/as de University of Birmingham (18)

2024

  1. Comprehensive analysis of constitutional mismatch repair deficiency-associated non-Hodgkin lymphomas in a global cohort

    Pediatric Blood and Cancer

2022

  1. A genome-wide association study of radiotherapy induced toxicity in head and neck cancer patients identifies a susceptibility locus associated with mucositis

    British Journal of Cancer, Vol. 126, Núm. 7, pp. 1082-1090

  2. First international workshop of the ATM and cancer risk group (4-5 December 2019)

    Familial Cancer, Vol. 21, Núm. 2, pp. 211-227

2021

  1. Breast cancer risk genes - Association analysis in more than 113,000 women

    New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439

  2. Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

    American Journal of Human Genetics, Vol. 108, Núm. 7, pp. 1190-1203

2020

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

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

  2. 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

2019

  1. Association analyses identify 31 new risk loci for colorectal cancer susceptibility

    Nature Communications, Vol. 10, Núm. 1

  2. Genome-wide association study of germline variants and breast cancer-specific mortality

    British Journal of Cancer, Vol. 120, Núm. 6, pp. 647-657

  3. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

    American Journal of Human Genetics, Vol. 104, Núm. 1, pp. 21-34

  4. The polymorphic variant rs1800734 influences methylation acquisition and allele-specific TFAP4 binding in the MLH1 promoter leading to differential mRNA expression

    Scientific Reports, Vol. 9, Núm. 1

2018

  1. Native American gene continuity to the modern admixed population from the Colombian Andes: Implication for biomedical, population and forensic studies

    Forensic Science International: Genetics, Vol. 36, pp. e1-e7

  2. Telomere length and genetics are independent colorectal tumour risk factors in an evaluation of biomarkers in normal bowel

    British Journal of Cancer, Vol. 118, Núm. 5, pp. 727-732

2012

  1. COGENT (COlorectal cancer GENeTics) revisited

    Mutagenesis, Vol. 27, Núm. 2, pp. 143-151

2010

  1. Functional consequences of seven novel mutations in the CYP11B1 gene: Four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 779-788

2009

  1. Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.

    Human mutation, Vol. 30, Núm. 2

2008

  1. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

    Nature Genetics, Vol. 40, Núm. 5, pp. 623-630

  2. Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

    Human Molecular Genetics, Vol. 17, Núm. 23, pp. 3720-3727