Publicacións en colaboración con investigadores/as de Karolinska University Hospital (56)

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. Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

    Cancer Medicine, Vol. 12, Núm. 15, pp. 16142-16162

  3. Characterization and outcomes of 414 patients with primary SS who developed haematological malignancies

    Rheumatology (United Kingdom), Vol. 62, Núm. 1, pp. 243-255

  4. Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

    Nature Genetics, Vol. 55, Núm. 12, pp. 2065-2074

  5. EULAR recommendations for the management of systemic lupus erythematosus: 2023 update

    Annals of the Rheumatic Diseases

  6. 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

  7. FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

    European journal of human genetics : EJHG, Vol. 31, Núm. 5, pp. 578-587

  8. Mapping exercise and status update of eight established registries within the TREatment of ATopic eczema Registry Taskforce

    Journal of the European Academy of Dermatology and Venereology, Vol. 37, Núm. 1, pp. 123-136

  9. Plasma Human Immunodeficiency Virus 1 RNA and CD4+T-Cell Counts Are Determinants of Virological Nonsuppression Outcomes with Initial Integrase Inhibitor-Based Regimens: A Prospective RESPOND Cohort Study

    Clinical Infectious Diseases

  10. Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases

    Cancers, Vol. 15, Núm. 13

2022

  1. Breast cancer risks associated with missense variants in breast cancer susceptibility genes

    Genome Medicine, Vol. 14, Núm. 1

  2. Common variants in breast cancer risk loci predispose to distinct tumor subtypes

    Breast Cancer Research, Vol. 24, Núm. 1

  3. Pathology of tumors associated with pathogenic germline variants in 9 breast cancer susceptibility genes

    JAMA Oncology, Vol. 8, Núm. 3

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

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

2021

  1. 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

  2. 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

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

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

  4. Elective Cancer Surgery in COVID-19-Free Surgical Pathways during the SARS-CoV-2 Pandemic: An International, Multicenter, Comparative Cohort Study

    Journal of Clinical Oncology, Vol. 39, Núm. 1, pp. 66-78

  5. Genetic insights into biological mechanisms governing human ovarian ageing

    Nature, Vol. 596, Núm. 7872, pp. 393-397

  6. Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

    Scientific Reports, Vol. 11, Núm. 1