Publications en collaboration avec des chercheurs de Instituto de Investigación Sanitaria del Hospital Universitario La Paz (43)

2024

  1. A genome-wide association analysis reveals new pathogenic pathways in gout*

    Nature Genetics

  2. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  3. Epidemiological and clinical characterization of community, healthcare-associated and nosocomial colonization and infection due to carbapenemase-producing Klebsiella pneumoniae and Escherichia coli in Spain

    Infection

  4. Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

    Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149

  5. Identification of copy-number variants in patients with overgrowth disorders

    Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624

  6. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

  7. Profile of Patients With Moderate-to-Severe Atopic Dermatitis and Chronic Urticaria Undergoing Biological Treatment in Hospital Allergy Units in Spain: First Report of the Alergodata Registry

    Journal of investigational allergology & clinical immunology, Vol. 34, Núm. 2, pp. 131-133

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. ALERGODATA: Sentinel Registry of Health Outcomes in Allergic Patients Treated With Biological Therapies at Specialized Allergology Clinics in Spain

    Journal of Investigational Allergology and Clinical Immunology, Vol. 33, Núm. 6, pp. 479-482

  3. Decoding the molecular heterogeneity of pediatric monomorphic post–solid organ transplant lymphoproliferative disorders

    Blood, Vol. 142, Núm. 5, pp. 434-445

  4. Effectiveness and Safety of Ustekinumab in Elderly Patients with Crohn's Disease: Real World Evidence From the ENEIDA Registry

    Journal of Crohn's & colitis, Vol. 17, Núm. 1, pp. 83-91

  5. Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)

    Nature

  6. Haploidentical vs. HLA-matched donor hematopoietic stem-cell transplantation for pediatric patients with acute lymphoblastic leukemia in second remission: A collaborative retrospective study of the Spanish Group for Bone Marrow Transplantation in Children (GETMON/GETH) and the Spanish Childhood Relapsed ALL Board (ReALLNet)

    Frontiers in Pediatrics, Vol. 11

  7. Long-Term Outcomes of Biological Therapy in Crohn's Disease Complicated with Internal Fistulizing Disease: BIOSCOPE Study from GETECCU

    American Journal of Gastroenterology, Vol. 118, Núm. 6, pp. 1036-1046

  8. Obstructive sleep apnoea is related to melanoma aggressiveness through paraspeckle protein-1 upregulation

    The European respiratory journal, Vol. 61, Núm. 2

  9. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Genome Medicine, Vol. 15, Núm. 1

  10. SARS-CoV-2 infection in children with cystic fibrosis: A cross-sectional multicenter study in Spain. New waves, new knowledge

    Pediatric Pulmonology, Vol. 58, Núm. 11, pp. 3195-3205

2022

  1. Abdominal normothermic regional perfusion in controlled donation after circulatory determination of death liver transplantation: Outcomes and risk factors for graft loss

    American Journal of Transplantation, Vol. 22, Núm. 4, pp. 1169-1181

  2. Classification of follicular-patterned thyroid lesions using a minimal set of epigenetic biomarkers

    European journal of endocrinology, Vol. 187, Núm. 3, pp. 335-347

  3. Current status of precision medicine in pediatric oncology in Spain: a consensus report by the Spanish Society of Paediatric Haematology and Oncology (SEHOP)

    Clinical and Translational Oncology, Vol. 24, Núm. 5, pp. 809-815