Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (4)

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

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

2020

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

    Scientific Reports, Vol. 10, Núm. 1