Publicaciones en colaboración con investigadores/as de Broad Institute (3)

2020

  1. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488

2018

  1. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

    Skeletal Muscle, Vol. 8, Núm. 1

  2. Limb girdle muscular dystrophy due to mutations in POMT2

    Journal of neurology, neurosurgery, and psychiatry, Vol. 89, Núm. 5, pp. 506-512