Publications in collaboration with researchers from Hospital for Sick Children (16)

2024

  1. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

    Genetics in Medicine, Vol. 26, Núm. 4

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

2020

  1. Incidence, Treatment, and Outcome Trends of Necrotizing Enterocolitis in Preterm Infants: A Multicenter Cohort Study

    Frontiers in Pediatrics, Vol. 8

  2. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

    Scientific Reports, Vol. 10, Núm. 1

  3. Prevention, diagnosis and treatment of necrotising enterocolitis in newborns less than 32 weeks at birth in Spain

    Anales de Pediatria, Vol. 93, Núm. 3, pp. 161-169

  4. Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder (Nature Neuroscience, (2017), 20, 9, (1217-1224), 10.1038/nn.4598)

    Nature Neuroscience

2019

  1. Cohort study showed that growth rate increment has not been enough to prevent growth retardation of preterm infants and raised concerns about unbalanced growth

    Acta Paediatrica, International Journal of Paediatrics, Vol. 108, Núm. 10, pp. 1793-1800

  2. The Effect of Morbidity and Sex on Postnatal Growth of Very Preterm Infants: A Multicenter Cohort Study

    Neonatology, Vol. 115, Núm. 4, pp. 348-354

  3. The impact of postnatal systemic steroids on the growth of preterm infants: A multicenter cohort study

    Nutrients, Vol. 11, Núm. 11

  4. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106

2017

  1. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

    Nature Neuroscience, Vol. 20, Núm. 9, pp. 1217-1224

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. Lower respiratory tract infection caused by respiratory syncytial virus: Current management and new therapeutics

    The Lancet Respiratory Medicine, Vol. 3, Núm. 11, pp. 888-900

  3. Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes

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

2014

  1. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

    Nature Genetics, Vol. 46, Núm. 8, pp. 826-836

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