Publicaciones en colaboración con investigadores/as de Universitat Autònoma de Barcelona (10)

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

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

  2. Small for Gestational Age Moderate to Late Preterm Children: A Neuropsychological Follow-up

    Developmental Neuropsychology, Vol. 46, Núm. 4, pp. 277-287

2020

  1. Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

    Human Mutation, Vol. 41, Núm. 4, pp. 837-849

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

    Scientific Reports, Vol. 10, Núm. 1

  3. Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability

    Genes, Vol. 11, 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

2014

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

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