Publikationen in Zusammenarbeit mit Forschern von Hospital Vall d'Hebron (30)

2024

  1. Correction in article by Juzga-Corrales et al. “Characteristics and outcomes of the Spanish registry for pediatric patients with bicuspid aortic valve (REVAB)”, Rev Esp Cardiol. 2023;76:961-969 (Revista Española de Cardiología (English Edition) (2024) 77(4) (358–359), (S1885585724000331), (10.1016/j.rec.2023.12.011))

    Revista Espanola de Cardiologia

2023

  1. Admixture mapping of severe asthma exacerbations in Hispanic/Latino children and youth

    Thorax, Vol. 78, Núm. 3, pp. 233-241

  2. Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations

    Pulmonology

2022

  1. Development of Lung Function in Preterm Infants During the First Two Years of Life

    Archivos de Bronconeumologia, Vol. 58, Núm. 3, pp. 237-245

  2. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology, Vol. 98, Núm. 9, pp. E912-E923

  3. Diverse mutations and structural variations contribute to Notch signaling deregulation in paediatric T-cell lymphoblastic lymphoma

    Pediatric Blood and Cancer, Vol. 69, Núm. 11

  4. Genetic diagnosis of basal ganglia disease in childhood

    Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752

  5. Multi-ancestry genome-wide association study of asthma exacerbations

    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, Vol. 33, Núm. 6, pp. e13802

  6. Neuroblastoma in Spain: Linking the national clinical database and epidemiological registries – A study by the Joint Action on Rare Cancers

    Cancer Epidemiology, Vol. 78

  7. Performance of QuantiFERON-TB Gold Plus assays in children and adolescents at risk of tuberculosis: a cross-sectional multicentre study

    Thorax, Vol. 77, Núm. 12, pp. 1193-1201

  8. Venous thromboembolism in pediatric patients with acute lymphoblastic leukemia under chemotherapy treatment. Risk factors and usefulness of thromboprophylaxis. Results of LAL-SEHOP-PETHEMA-2013

    Journal of Thrombosis and Haemostasis, Vol. 20, Núm. 6, pp. 1390-1399

2021

  1. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

  2. Interferon-Gamma Release Assays Differentiate between Mycobacterium avium Complex and Tuberculous Lymphadenitis in Children

    Journal of Pediatrics, Vol. 236, pp. 211-218.e2

2020

  1. Epigenetic footprint enables molecular risk stratification of hepatoblastoma with clinical implications

    Journal of Hepatology, Vol. 73, Núm. 2, pp. 328-341

  2. Measurable Residual Disease Assessed by Flow-Cytometry Is a Stable Prognostic Factor for Pediatric T-Cell Acute Lymphoblastic Leukemia in Consecutive SEHOP Protocols Whereas the Impact of Oncogenetics Depends on Treatment

    Frontiers in Pediatrics, Vol. 8

2019

  1. Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

    Annals of Neurology, Vol. 86, Núm. 2, pp. 293-303

  2. Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study

    Pediatric Pulmonology, Vol. 54, Núm. 6, pp. 837-846

  3. Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia

    Nature Medicine, Vol. 25, Núm. 9, pp. 1396-1401

2017

  1. Prediction of long-term outcomes of HIV-infected patients developing non-AIDS events using a multistate approach

    PLoS ONE, Vol. 12, Núm. 9

2016

  1. Impact of late presentation of HIV infection on short-, mid- and long-term mortality and causes of death in a multicenter national cohort: 2004-2013

    Journal of Infection, Vol. 72, Núm. 5, pp. 587-596