Publicaciones en colaboración con investigadores/as de University of Melbourne (13)

2024

  1. Targeted metagenomics reveals association between severity and pathogen co-detection in infants with respiratory syncytial virus

    Nature Communications, Vol. 15, Núm. 1

2023

  1. Dual latent tuberculosis screening with tuberculin skin tests and QuantiFERON-TB assays before TNF-α inhibitor initiation in children in Spain

    European Journal of Pediatrics, Vol. 182, Núm. 1, pp. 307-317

2022

  1. Global, regional, and national disease burden estimates of acute lower respiratory infections due to respiratory syncytial virus in children younger than 5 years in 2019: a systematic analysis

    The Lancet, Vol. 399, Núm. 10340, pp. 2047-2064

  2. Time to improve documentation of neonatal resuscitation: a narrative review

    Minerva Pediatrics, Vol. 74, Núm. 6, pp. 766-773

  3. Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations

    American Journal of Human Genetics, Vol. 109, Núm. 9, pp. 1680-1691

2021

  1. Documentation during neonatal resuscitation: A systematic review

    Archives of Disease in Childhood: Fetal and Neonatal Edition, Vol. 106, Núm. 4, pp. 376-380

  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. Cardiac phenotype in ATP1A3 -related syndromes: A multicenter cohort study

    Neurology, Vol. 95, Núm. 21, pp. E2866-E2879

  2. Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study

    The Lancet Neurology, Vol. 19, Núm. 10, pp. 840-848

2015

  1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312

  2. Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood - A study of 155 patients

    Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1

2013

  1. Recomendaciones sobre transporte neonatal

    Anales de Pediatria, Vol. 79, Núm. 2

2012

  1. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

    Nature Genetics, Vol. 44, Núm. 6, pp. 704-708