Publicaciones en colaboración con investigadores/as 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