Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (3)

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

2016

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

    PLoS ONE, Vol. 11, Núm. 5