Publications in collaboration with researchers from Karolinska University Hospital (57)

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. In-hospital and 6-month outcomes in patients with COVID-19 supported with extracorporeal membrane oxygenation (EuroECMO-COVID): a multicentre, prospective observational study

    The Lancet Respiratory Medicine, Vol. 11, Núm. 2, pp. 151-162

  9. Integrating biological HLA-DPB1 mismatch models to predict survival after unrelated hematopoietic cell transplantation

    Haematologica

  10. Locus for severity implicates CNS resilience in progression of multiple sclerosis

    Nature

  11. 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

  12. Real-world costs and dynamics of surveillance in patients who underwent surgery for low-risk branch duct intraductal papillary mucinous neoplasms

    European Journal of Surgical Oncology, Vol. 49, Núm. 1, pp. 137-141

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

    Cancers, Vol. 15, Núm. 13

  14. Transfusion practice in patients receiving VV ECMO (PROTECMO): a prospective, multicentre, observational study

    The Lancet Respiratory Medicine, Vol. 11, Núm. 3, pp. 245-255