Publicacións en colaboración con investigadores/as de University Hospital of Bern (24)

2024

  1. Brain function in classic galactosemia, a galactosemia network (GalNet) members review

    Frontiers in Genetics

  2. External validation of a multivariable prediction model for identification of pneumonia and other serious bacterial infections in febrile immunocompromised children

    Archives of Disease in Childhood, Vol. 109, Núm. 1, pp. 58-66

  3. Raising AWaRe-ness of Antimicrobial Stewardship Challenges in Pediatric Emergency Care: Results from the PERFORM Study Assessing Consistency and Appropriateness of Antibiotic Prescribing Across Europe

    Clinical Infectious Diseases, Vol. 78, Núm. 3, pp. 526-534

2023

  1. A multi-platform approach to identify a blood-based host protein signature for distinguishing between bacterial and viral infections in febrile children (PERFORM): a multi-cohort machine learning study

    The Lancet. Digital health, Vol. 5, Núm. 11, pp. e774-e785

  2. Adeno-associated virus 2 infection in children with non-A–E hepatitis

    Nature, Vol. 617, Núm. 7961, pp. 555-563

  3. Diagnosis of Multisystem Inflammatory Syndrome in Children by a Whole-Blood Transcriptional Signature

    Journal of the Pediatric Infectious Diseases Society, Vol. 12, Núm. 6, pp. 322-331

  4. Diagnosis of childhood febrile illness using a multi-class blood RNA molecular signature

    Med, Vol. 4, Núm. 9, pp. 635-654.e5

  5. Erratum: Correction to: Febrile illness in high-risk children: a prospective, international observational study (European journal of pediatrics (2023) 182 2 (543-554))

    European journal of pediatrics

  6. Erratum: Correction to: Group A streptococcal disease in paediatric inpatients: a European perspective (European journal of pediatrics (2023) 182 2 (697-706))

    European journal of pediatrics

  7. Febrile illness in high-risk children: a prospective, international observational study

    European Journal of Pediatrics, Vol. 182, Núm. 2, pp. 543-554

  8. Genomic investigations of unexplained acute hepatitis in children

    Nature, Vol. 617, Núm. 7961, pp. 564-573

  9. Group A streptococcal disease in paediatric inpatients: a European perspective

    European Journal of Pediatrics, Vol. 182, Núm. 2, pp. 697-706

  10. Relationship between molecular pathogen detection and clinical disease in febrile children across Europe: a multicentre, prospective observational study

    The Lancet Regional Health - Europe, Vol. 32

2022

  1. Galactose epimerase deficiency: lessons from the GalNet registry

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 331

2021

  1. A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 5, pp. 1124-1135

  2. Galactokinase deficiency: lessons from the GalNet registry

    Genetics in Medicine, Vol. 23, Núm. 1, pp. 202-210

2020

  1. Whole-exome sequencing for the identification of rare variants in primary immunodeficiency genes in children with sepsis: A prospective, population-based cohort study

    Clinical Infectious Diseases, Vol. 71, Núm. 10, pp. E614-E623

2019

  1. Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

    Scientific Reports, Vol. 9, Núm. 1

  2. Plasma lipid profiles discriminate bacterial from viral infection in febrile children

    Scientific Reports, Vol. 9, Núm. 1

  3. The natural history of classic galactosemia: Lessons from the GalNet registry

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1