Publikationen in Zusammenarbeit mit Forschern von Boston Children's Hospital (28)

2024

  1. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

    eBioMedicine, Vol. 107

  2. Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA

    Hepatology (Baltimore, Md.), Vol. 79, Núm. 6, pp. 1279-1292

  3. 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

  4. Minimal information for studies of extracellular vesicles (MISEV2023): From basic to advanced approaches

    Journal of Extracellular Vesicles, Vol. 13, Núm. 2

  5. 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

  3. Thrombotic and hemorrhagic complications of COVID-19 in adults hospitalized in high-income countries compared with those in adults hospitalized in low- and middle-income countries in an international registry

    Research and Practice in Thrombosis and Haemostasis, Vol. 7, Núm. 5

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

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

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

    Pediatrics, Vol. 147, Núm. 1

  4. Neonatal mastitis and concurrent serious bacterial infection

    Pediatrics, Vol. 148, Núm. 1

  5. 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

  6. 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

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

    European Journal of Emergency Medicine

2020

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

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