Publicacións en colaboración con investigadores/as de Academic Medical Center (27)

2024

  1. A genome-wide association study meta-analysis in a European sample of stage III/IV grade C periodontitis patients ≤35 years of age identifies new risk loci

    Journal of Clinical Periodontology, Vol. 51, Núm. 4, pp. 431-440

  2. 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. 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

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

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

  4. Genomic investigations of unexplained acute hepatitis in children

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

  5. 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

  6. The burden of respiratory syncytial virus in healthy term-born infants in Europe: a prospective birth cohort study

    The Lancet Respiratory Medicine, Vol. 11, Núm. 4, pp. 341-353

2022

  1. Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations

    American Journal of Human Genetics, Vol. 109, Núm. 9, pp. 1680-1691

2021

  1. A Novel Framework for Phenotyping Children With Suspected or Confirmed Infection for Future Biomarker Studies

    Frontiers in Pediatrics, Vol. 9

2019

  1. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    Nature Communications, Vol. 10, Núm. 1

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

    Scientific Reports, Vol. 9, Núm. 1

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

    Scientific Reports, Vol. 9, Núm. 1

  4. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106

2018

  1. Antivirals for influenza-Like Illness? A randomised Controlled trial of Clinical and Cost effectiveness in primary CarE (ALIC4 E): the ALIC4 E protocol

    BMJ open, Vol. 8, Núm. 7, pp. e021032

  2. Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)

    Journal of Inherited Metabolic Disease

  3. Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)

    Journal of Inherited Metabolic Disease

2017

  1. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

2016

  1. Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

    Journal of Inherited Metabolic Disease, Vol. 39, Núm. 5, pp. 661-672

2015

  1. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation (J Inherit Metab Dis, 10.1007/s10545-015-9839-3)

    Journal of Inherited Metabolic Disease