Publicacións en colaboración con investigadores/as de Pierre and Marie Curie University (10)

2024

  1. The genomic evolutionary dynamics and global circulation patterns of respiratory syncytial virus

    Nature communications, Vol. 15, Núm. 1, pp. 3083

2022

  1. Postauthorization safety study of betaine anhydrous

    Journal of Inherited Metabolic Disease, Vol. 45, Núm. 4, pp. 719-733

2021

  1. Systemic Treatment of Fabry Disease Using a Novel AAV9 Vector Expressing α-Galactosidase A

    Molecular Therapy - Methods and Clinical Development, Vol. 20, pp. 1-17

  2. Treatment of Multisystem Inflammatory Syndrome in Children

    New England Journal of Medicine, Vol. 385, Núm. 1, pp. 11-22

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

2019

  1. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

2018

  1. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    Journal of Inherited Metabolic Disease

2016

  1. Valoración clínica del dolor en unidades de cuidados intensivos neonatales españolas

    Anales de Pediatria, Vol. 85, Núm. 4, pp. 181-188

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. Sedation and analgesia practices in neonatal intensive care units (EUROPAIN): Results from a prospective cohort study

    The Lancet Respiratory Medicine, Vol. 3, Núm. 10, pp. 796-812