Publicaciones en colaboración con investigadoras/es de Universitat Autònoma de Barcelona (61)

2024

  1. Cancer is not a risk factor for severe COVID-19 in children, except in patients with recent allogeneic hematopoietic stem cell transplantation or comorbidities

    Pediatric Blood and Cancer, Vol. 71, Núm. 8

  2. 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

  3. Immortalized human myotonic dystrophy type 1 muscle cell lines to address patient heterogeneity

    iScience, Vol. 27, Núm. 6

2023

  1. Autosomal dominant polycystic kidney disease in young adults

    Clinical Kidney Journal, Vol. 16, Núm. 6, pp. 985-995

  2. Characteristics and outcomes of the Spanish registry for pediatric patients with bicuspid aortic valve (REVAB)

    Revista Espanola de Cardiologia, Vol. 76, Núm. 12, pp. 961-969

  3. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    Genome medicine, Vol. 15, Núm. 1, pp. 68

  4. Immunisation schedule of the Spanish Association of Paediatrics: 2023 Recommendations

    Anales de Pediatria, Vol. 98, Núm. 1, pp. 58.e1-58.e10

  5. Inhaler Technique Questionnaire (InTeQ) in pediatric patients with asthma

    World Journal of Pediatrics

  6. Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing

    International Journal of Molecular Sciences, Vol. 24, Núm. 22

  7. Treatment and long-term outcome in primary nephrogenic diabetes insipidus

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130

2022

  1. Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants

    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, Vol. 37, Núm. 10, pp. 1906-1915

  2. 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

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

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

  4. Genetic diagnosis of basal ganglia disease in childhood

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

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. Correction to: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population (Orphanet Journal of Rare Diseases, (2021), 16, 1, (104), 10.1186/s13023-021-01729-0)

    Orphanet Journal of Rare Diseases

  3. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 2, pp. 401-414

  4. Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes

    Molecular Therapy - Methods and Clinical Development, Vol. 22, pp. 66-75

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

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

  6. Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

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