Publicacions en col·laboració amb investigadors/es de Hospital Vall d'Hebron (5)

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

  2. Genetic diagnosis of basal ganglia disease in childhood

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

2021

  1. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2019

  1. Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

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

2016

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

    PLoS ONE, Vol. 11, Núm. 5