Publicacións en colaboración con investigadores/as de University of Toronto (5)

2021

  1. Variations in Neonatal Length of Stay of Babies Born Extremely Preterm: An International Comparison Between iNeo Networks

    Journal of Pediatrics, Vol. 233, pp. 26-32.e6

2020

  1. 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

2017

  1. Global Asthma Network survey suggests more national asthma strategies could reduce burden of asthma

    Allergologia et Immunopathologia, Vol. 45, Núm. 2, pp. 105-114

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

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