Publicaciones en colaboración con investigadores/as de Universidad de Chile (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. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology, Vol. 98, Núm. 9, pp. E912-E923

2019

  1. Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

    Annals of Neurology, Vol. 86, Núm. 2, pp. 293-303