Publicacions en col·laboració amb investigadors/es de Universitat de Barcelona (5)

2023

  1. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    Genome medicine, Vol. 15, Núm. 1, pp. 68

2022

  1. Genetic diagnosis of basal ganglia disease in childhood

    Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752

2020

  1. Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

    Scientific Reports, Vol. 10, Núm. 1

2016

  1. Targeted next generation sequencing in patients with inborn errors of metabolism

    PLoS ONE, Vol. 11, Núm. 5

2014

  1. Herpes simplex virus encephalitis is a trigger of brain autoimmunity

    Annals of Neurology, Vol. 75, Núm. 2, pp. 317-323