Publications in collaboration with researchers from Universitat de Barcelona (63)

2024

  1. Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004336

  2. Renal Function Impairment in Children With Congenital Cytomegalovirus Infection: A Cross-sectional Study

    The Pediatric infectious disease journal, Vol. 43, Núm. 3, pp. 257-262

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

  3. Autosomal dominant polycystic kidney disease in young adults

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

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

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

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

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

  6. The Value of the Second QuantiFERON-TB Gold-Plus Antigen Tube at Diagnosis and at Treatment Completion in Spanish Children With Tuberculosis

    Pediatric Infectious Disease Journal, Vol. 42, Núm. 11, pp. 1017-1020

2022

  1. Genetic diagnosis of basal ganglia disease in childhood

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

  2. Gluten-induced RNA methylation changes regulate intestinal inflammation via allele-specific XPO1 translation in epithelial cells

    Gut, Vol. 71, Núm. 1, pp. 68-77

  3. Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood

    eLife, Vol. 11

  4. 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

  5. Spanish Asthma Management Guidelines (GEMA) VERSION 5.1. Highlights and Controversies

    Archivos de Bronconeumologia

2021

  1. 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

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

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

  3. Oral immunotherapy in severe cow’s milk allergic patients treated with omalizumab: Real life survey from a Spanish registry

    Pediatric Allergy and Immunology, Vol. 32, Núm. 6, pp. 1287-1295

  4. Paediatric Escherichia coli bacteraemia presentations and high-risk factors in the emergency department

    Acta Paediatrica, International Journal of Paediatrics, Vol. 110, Núm. 3, pp. 1032-1037

  5. 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