Publications in collaboration with researchers from University Hospital of Zurich (10)

2023

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

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

  2. Genomic investigations of unexplained acute hepatitis in children

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

2021

  1. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  2. Extremely Preterm Infant Admissions Within the SafeBoosC-III Consortium During the COVID-19 Lockdown

    Frontiers in Pediatrics, Vol. 9

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

2014

  1. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

    Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1

2013

  1. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

    Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082