Publications in collaboration with researchers from Boston Children's Hospital (21)

2024

  1. 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

  2. Rapid iPSC inclusionopathy models shed light on formation, consequence, and molecular subtype of α-synuclein inclusions

    Neuron, Vol. 112, Núm. 17, pp. 2886-2909.e16

2023

  1. Acute evaluation of sport-related concussion and implications for the Sport Concussion Assessment Tool (SCAT6) for adults, adolescents and children: a systematic review

    British journal of sports medicine, Vol. 57, Núm. 11, pp. 722-735

  2. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

    Brain, Vol. 146, Núm. 8, pp. 3273-3288

2022

  1. Omphalitis and Concurrent Serious Bacterial Infection

    Pediatrics, Vol. 149, Núm. 5

  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. PIGN encephalopathy: Characterizing the epileptology

    Epilepsia, Vol. 63, Núm. 4, pp. 974-991

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

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

2021

  1. Exposure and confidence across critical airway procedures in pediatric emergency medicine: An international survey study

    American Journal of Emergency Medicine, Vol. 42, pp. 70-77

  2. Invasive bacterial infections in afebrile infants diagnosed with acute otitis media

    Pediatrics, Vol. 147, Núm. 1

  3. Neonatal mastitis and concurrent serious bacterial infection

    Pediatrics, Vol. 148, Núm. 1

  4. The Pediatric Emergency Research Network (PERN): A decade of global research cooperation in paediatric emergency care

    EMA - Emergency Medicine Australasia, Vol. 33, Núm. 5, pp. 900-910

  5. The Pediatric Emergency Research Network: A Decade of Global Research Cooperation in Pediatric Emergency Care

    Pediatric Emergency Care, Vol. 37, Núm. 7, pp. 389-396

  6. The Pediatric Emergency Research Network: A decade old and growing

    European Journal of Emergency Medicine

2019

  1. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

    Molecular Genetics and Metabolism, Vol. 127, Núm. 1, pp. 1-11

  2. Preferred learning modalities and practice for critical skills: A global survey of paediatric emergency medicine clinicians

    Emergency Medicine Journal, Vol. 36, Núm. 5, pp. 273-280

2018

  1. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

    American Journal of Human Genetics, Vol. 103, Núm. 5, pp. 786-793

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

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

2013

  1. Langerhans cell histiocytosis (LCH): Guidelines for diagnosis, clinical work-up, and treatment for patients till the age of 18 years

    Pediatric Blood and Cancer, Vol. 60, Núm. 2, pp. 175-184