Publications en collaboration avec des chercheurs de Leiden University Medical Center (360)

2024

  1. Clinical descriptors of disease trajectories in patients with traumatic brain injury in the intensive care unit (CENTER-TBI): a multicentre observational cohort study

    The Lancet Neurology, Vol. 23, Núm. 1, pp. 71-80

  2. Consensus recommendation for prenatal, neonatal and postnatal management of congenital cytomegalovirus infection from the European congenital infection initiative (ECCI)

    The Lancet Regional Health - Europe, Vol. 40

  3. Does the Impact of COVID-19 on Patients With Systemic Sclerosis Change Over Time?

    Arthritis Care and Research, Vol. 76, Núm. 1, pp. 88-97

  4. Early management of adult traumatic spinal cord injury in patients with polytrauma: a consensus and clinical recommendations jointly developed by the World Society of Emergency Surgery (WSES) & the European Association of Neurosurgical Societies (EANS)

    World Journal of Emergency Surgery, Vol. 19, Núm. 1

  5. High prevalence of venous thrombotic events in Cushing’s syndrome: data from ERCUSYN and details in relation to surgery

    European Journal of Endocrinology, Vol. 190, Núm. 1, pp. 75-85

  6. JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

    Journal of Allergy and Clinical Immunology, Vol. 153, Núm. 1, pp. 275-286.e18

  7. Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells

    Science Immunology, Vol. 9, Núm. 91

  8. Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants

    Clinical chemistry, Vol. 70, Núm. 1, pp. 319-338

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. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

    Genome Medicine, Vol. 15, Núm. 1

  4. 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

  5. Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival

    Journal of Clinical Oncology, Vol. 41, Núm. 10, pp. 1849-1863

  6. Author Correction: Optical coherence tomography in coronary atherosclerosis assessment and intervention (Nature Reviews Cardiology, (2022), 19, 10, (684-703), 10.1038/s41569-022-00687-9)

    Nature Reviews Cardiology

  7. Central nervous system involvement in systemic lupus erythematosus: Data from the Spanish Society of Rheumatology Lupus Register (RELESSER)

    Seminars in Arthritis and Rheumatism, Vol. 58

  8. Characteristics of individuals with alpha-1 antitrypsin deficiency from Northern and Southern European countries: EARCO international registry

    The European respiratory journal

  9. Comparative effectiveness of decompressive craniectomy versus craniotomy for traumatic acute subdural hematoma (CENTER-TBI): an observational cohort study

    eClinicalMedicine, Vol. 63

  10. Correction to: Real-Life Barriers to Diagnosis of Early Mycosis Fungoides: An International Expert Panel Discussion (American Journal of Clinical Dermatology, (2023), 24, 1, (5-14), 10.1007/s40257-022-00732-w)

    American Journal of Clinical Dermatology

  11. Correction: Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry (Respiratory Research, (2022), 23, 1, (352), 10.1186/s12931-022-02275-4)

    Respiratory Research

  12. Correction: “The 5th edition of The World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms” Leukemia. 2022 Jul;36(7):1720–1748 (Leukemia, (2022), 36, 7, (1720-1748), 10.1038/s41375-022-01620-2)

    Leukemia