Publicaciones en colaboración con investigadoras/es de Hospital Universitario La Fe (74)

2023

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

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

  2. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

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

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

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. Consensus guide on prophylactic gonadectomy in different sex development

    Endocrinologia, Diabetes y Nutricion, Vol. 69, Núm. 8, pp. 629-645

  3. Correlation of Anti-Tissue Transglutaminase Antibodies With the Mucosal Changes and IgA Status of Children With Celiac Disease

    Journal of pediatric gastroenterology and nutrition, Vol. 75, Núm. 6, pp. 743-748

  4. 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

  5. Delphi consensus on the diagnosis and treatment of patients with short stature in Spain: GROW-SENS study

    Journal of Endocrinological Investigation

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

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

  7. Maternal and Neonatal Prognostic Factors for Cardiorespiratory Events in Healthy Term Neonates During Early Skin-to-Skin Contact

    Frontiers in Pediatrics, Vol. 10

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

    Cancer Epidemiology, Vol. 78

  9. 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

  10. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

  11. Tapering of the thrombopoietin receptor agonist in paediatric patients with chronic immune thrombocytopenia: Is it possible?

    British Journal of Clinical Pharmacology, Vol. 88, Núm. 9, pp. 4220-4223

  12. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

2021

  1. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

  2. Mother's Bed Incline and Desaturation Episodes in Healthy Term Newborns during Early Skin-to-Skin Contact: A Multicenter Randomized Controlled Trial

    Neonatology, Vol. 118, Núm. 6, pp. 702-709

  3. QuantiFERON-TB Gold Plus Assay Specificity in Children and Adolescents With Suspected Tuberculosis - A Multicenter Cross-sectional Study in Spain

    Pediatric Infectious Disease Journal, Vol. 40, Núm. 9, pp. E348-E351

2020

  1. Diagnostic Accuracy of QuantiFERON-TB Gold Plus Assays in Children and Adolescents with Tuberculosis Disease

    Journal of Pediatrics, Vol. 223, pp. 212-215.e1

  2. Distinct molecular profile of IRF4-rearranged large B-cell lymphoma

    Blood, Vol. 135, Núm. 4, pp. 274-286