Publications in collaboration with researchers from Hospital for Sick Children (24)

2024

  1. AI is a viable alternative to high throughput screening: a 318-target study

    Scientific Reports, Vol. 14, Núm. 1

  2. 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

  2. Diminishing benefits of urban living for children and adolescents’ growth and development

    Nature, Vol. 615, Núm. 7954, pp. 874-883

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

  5. Repositioning of the global epicentre of non-optimal cholesterol

    Nature, Vol. 582, Núm. 7810, pp. 73-77

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. Rising rural body-mass index is the main driver of the global obesity epidemic in adults

    Nature

  3. 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

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

    Nutrients, Vol. 11, Núm. 11

  5. 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

  2. Worldwide trends in body-mass index, underweight, overweight, and obesity from 1975 to 2016: a pooled analysis of 2416 population-based measurement studies in 128·9 million children, adolescents, and adults

    The Lancet, Vol. 390, Núm. 10113, pp. 2627-2642

2016

  1. A century of trends in adult human height

    eLife, Vol. 5, Núm. 2016JULY

  2. A century of trends in adult human height

    eLife, Vol. 5

  3. A century of trends in adult human height

    eLife, Vol. 5

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