Publicacións en colaboración con investigadores/as de Charité (10)

2024

  1. Influence of COVID-19 on trust in routine immunization, health information sources and pandemic preparedness in 23 countries in 2023

    Nature Medicine, Vol. 30, Núm. 6, pp. 1559-1563

2023

  1. Corrigendum to “Dissecting the genetic heterogeneity of gastric cancer” (eBioMedicine (2023) 92, (S2352396423001810), (10.1016/j.ebiom.2023.104616))

    eBioMedicine

  2. Dissecting the genetic heterogeneity of gastric cancer

    eBioMedicine, Vol. 92

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

2019

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

    Scientific Reports, Vol. 9, Núm. 1

  2. Newborn screening for homocystinurias: Recent recommendations versus current practice

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139

2015

  1. The complete mitogenome of a 500-year-old Inca child mummy

    Scientific Reports, Vol. 5

2012

  1. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

    Nature Genetics, Vol. 44, Núm. 6, pp. 704-708

2010

  1. Functional consequences of seven novel mutations in the CYP11B1 gene: Four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 779-788

  2. Management of phenylketonuria in Europe: Survey results from 19 countries

    Molecular Genetics and Metabolism, Vol. 99, Núm. 2, pp. 109-115