Publicacións en colaboración con investigadores/as de University of Queensland (25)

2024

  1. Efficacy and safety of colistin plus beta-lactams for bone and joint infection caused by fluoroquinolone-resistant gram-negative bacilli: a prospective multicenter study

    Infection

  2. Host gene expression signatures to identify infection type and organ dysfunction in children evaluated for sepsis: a multicentre cohort study

    The Lancet Child and Adolescent Health, Vol. 8, Núm. 5, pp. 325-338

2023

  1. A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2

    Human Mutation, Vol. 2023

  2. A second update on mapping the human genetic architecture of COVID-19

    Nature

  3. Erratum: Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 (Nature (2023) 617 7962 (764-768))

    Nature

  4. GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

    Nature, Vol. 617, Núm. 7962, pp. 764-768

  5. Germline mutations in WNK2 could be associated with serrated polyposis syndrome

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 557-567

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

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

2020

  1. Chromatin interactome mapping at 139 independent breast cancer risk signals

    Genome Biology, Vol. 21, Núm. 1

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

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

  3. Non-coding RNAs underlie genetic predisposition to breast cancer

    Genome Biology, Vol. 21, Núm. 1

2019

  1. Erratum to: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (Nature Communications, (2018), 9, 1, (4616), 10.1038/s41467-018-06863-1)

    Nature Communications

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

    Nature Communications, Vol. 10, Núm. 1

  3. Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

    Scientific Reports, Vol. 9, Núm. 1

  4. Plasma lipid profiles discriminate bacterial from viral infection in febrile children

    Scientific Reports, Vol. 9, Núm. 1

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

    npj Breast Cancer, Vol. 5, Núm. 1

2018

  1. BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

    Human Mutation, Vol. 39, Núm. 12, pp. 2025-2039

  2. Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

    Nature Communications, Vol. 9, Núm. 1

  3. Germline variation at 8q24 and prostate cancer risk in men of European ancestry

    Nature Communications, Vol. 9, Núm. 1