Publicaciones en colaboración con investigadores/as de University of Western Australia (58)

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. Early non-disabling relapses are important predictors of disability accumulation in people with relapsing-remitting multiple sclerosis

    Multiple sclerosis (Houndmills, Basingstoke, England), Vol. 29, Núm. 7, pp. 875-883

  3. Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel

    Journal of Medical Genetics, Vol. 60, Núm. 12, pp. 1186-1197

  4. How to use biomarkers of infection or sepsis at the bedside: guide to clinicians

    Intensive Care Medicine, Vol. 49, Núm. 2, pp. 142-153

  5. MYC directly transactivates CR2/CD21, the receptor of the Epstein–Barr virus, enhancing the viral infection of Burkitt lymphoma cells

    Oncogene, Vol. 42, Núm. 45, pp. 3358-3370

  6. Redefining Clostridioides difficile infection antibiotic response and clinical outcomes

    The Lancet Infectious Diseases, Vol. 23, Núm. 7, pp. e259-e265

  7. Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

    Nature genetics, Vol. 55, Núm. 3, pp. 369-376

  8. The risk of secondary progressive multiple sclerosis is geographically determined but modifiable

    Brain : a journal of neurology, Vol. 146, Núm. 11, pp. 4633-4644

2022

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

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

  2. Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study

    British Journal of Sports Medicine, Vol. 56, Núm. 20, pp. 1157-1170

  3. Proposal of 0.5 mg of protein/100 g of processed food as threshold for voluntary declaration of food allergen traces in processed food—A first step in an initiative to better inform patients and avoid fatal allergic reactions: A GA²LEN position paper

    Allergy: European Journal of Allergy and Clinical Immunology, Vol. 77, Núm. 6, pp. 1736-1750

2021

  1. Association of Opioid Agonist Treatment with All-Cause Mortality and Specific Causes of Death among People with Opioid Dependence: A Systematic Review and Meta-analysis

    JAMA Psychiatry, Vol. 78, Núm. 9, pp. 979-993

  2. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

    Breast cancer research : BCR, Vol. 23, Núm. 1, pp. 86

  3. Breast cancer risk factors and survival by tumor subtype: Pooled analyses from the breast cancer association consortium

    Cancer Epidemiology Biomarkers and Prevention, Vol. 30, Núm. 4, pp. 623-642

  4. 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

  5. Global parental leave in surgical careers: differences according to gender, geographical regions and surgical career stages

    The British journal of surgery, Vol. 108, Núm. 11, pp. 1315-1322

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

    eLife, Vol. 10

  7. Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families

    Neuropathology and Applied Neurobiology, Vol. 47, Núm. 2, pp. 283-296

  8. Multiple sclerosis progression discussion tool usability and usefulness in clinical practice: Cross-sectional, web-based survey

    Journal of Medical Internet Research, Vol. 23, Núm. 10

  9. The tale of TILs in breast cancer: A report from The International Immuno-Oncology Biomarker Working Group

    npj Breast Cancer, Vol. 7, Núm. 1