Publications in collaboration with researchers from University of Melbourne (32)

2024

  1. Targeted metagenomics reveals association between severity and pathogen co-detection in infants with respiratory syncytial virus

    Nature Communications, Vol. 15, Núm. 1

2023

  1. A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry

    Breast cancer research : BCR, Vol. 25, Núm. 1, pp. 93

  2. Dual latent tuberculosis screening with tuberculin skin tests and QuantiFERON-TB assays before TNF-α inhibitor initiation in children in Spain

    European Journal of Pediatrics, Vol. 182, Núm. 1, pp. 307-317

2022

  1. Global, regional, and national disease burden estimates of acute lower respiratory infections due to respiratory syncytial virus in children younger than 5 years in 2019: a systematic analysis

    The Lancet, Vol. 399, Núm. 10340, pp. 2047-2064

  2. Meta-analysis of epigenome-wide association studies in newborns and children show widespread sex differences in blood DNA methylation

    Mutation Research - Reviews in Mutation Research, Vol. 789

  3. Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations

    American Journal of Human Genetics, Vol. 109, Núm. 9, pp. 1680-1691

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. Cognitive functioning throughout adulthood and illness stages in individuals with psychotic disorders and their unaffected siblings

    Molecular Psychiatry, Vol. 26, Núm. 8, pp. 4529-4543

  3. Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk

    Journal of the National Cancer Institute, Vol. 113, Núm. 3, pp. 329-337

  4. Interferon-Gamma Release Assays Differentiate between Mycobacterium avium Complex and Tuberculous Lymphadenitis in Children

    Journal of Pediatrics, Vol. 236, pp. 211-218.e2

2020

  1. Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study

    The Lancet Neurology, Vol. 19, Núm. 10, pp. 840-848

  2. Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer

    Gut, Vol. 69, Núm. 8, pp. 1460-1471

2019

  1. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    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

2017

  1. Association analysis identifies 65 new breast cancer risk loci

    Nature, Vol. 551, Núm. 7678, pp. 92-94

  2. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

    Nature Genetics, Vol. 49, Núm. 7, pp. 993-1004

  3. Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

    Nature Communications, Vol. 8

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

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

2015

  1. A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk

    PLoS ONE, Vol. 10, Núm. 4

  2. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312