Publicaciones en colaboración con investigadoras/es de Children's Hospital of Philadelphia (24)

2024

  1. A genome-wide association analysis reveals new pathogenic pathways in gout*

    Nature Genetics

  2. Analysis of guideline recommendations for treatment of asthma exacerbations in children: a Pediatric Emergency Research Networks (PERN) study

    Archives of Disease in Childhood, Vol. 109, Núm. 6, pp. 468-475

  3. Correction to: A genome-wide association analysis reveals new pathogenic pathways in gout (Nature Genetics, (2024), 10.1038/s41588-024-01921-5)

    Nature Genetics

  4. Features Associated With Radiographic Pneumonia in Children with SARS-CoV-2

    Journal of the Pediatric Infectious Diseases Society, Vol. 13, Núm. 4, pp. 257-259

2023

  1. Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)

    Nature

  2. Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries

    Nature Genetics, Vol. 55, Núm. 5, pp. 796-806

  3. Impact of SARS-CoV-2 Infection on the Association Between Laboratory Tests and Severe Outcomes Among Hospitalized Children

    Open Forum Infectious Diseases, Vol. 10, Núm. 10

2022

  1. Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes

    BMC Medical Genomics, Vol. 15, Núm. 1

  2. Outcomes of SARS-CoV-2–Positive Youths Tested in Emergency Departments The Global PERN–COVID-19 Study

    JAMA Network Open, Vol. 5, Núm. 1, pp. E2142322

  3. Post-COVID-19 Conditions Among Children 90 Days After SARS-CoV-2 Infection

    JAMA Network Open, Vol. 5, Núm. 7, pp. E2223253

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  3. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  4. Mapping the human genetic architecture of COVID-19

    Nature, Vol. 600, Núm. 7889, pp. 472-477

2020

  1. Acute severe paediatric asthma: Study protocol for the development of a core outcome set, a Pediatric Emergency Reserarch Networks (PERN) study

    Trials, Vol. 21, Núm. 1

  2. Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

    Human Mutation, Vol. 41, Núm. 4, pp. 837-849

2017

  1. Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome

    Journal of Pediatrics, Vol. 189, pp. 72-78.e3

  2. Epiprofin Regulates Enamel Formation and Tooth Morphogenesis by Controlling Epithelial-Mesenchymal Interactions During Tooth Development

    Journal of Bone and Mineral Research, Vol. 32, Núm. 3, pp. 601-610

  3. Healthcare access and quality index based on mortality from causes amenable to personal health care in 195 countries and territories, 1990-2015: A novel analysis from the global burden of disease study 2015

    The Lancet, Vol. 390, Núm. 10091, pp. 231-266

2016

  1. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy