Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (3)

2023

  1. ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

    Frontiers in Genetics, Vol. 14

2020

  1. CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix

    Human Genetics, Vol. 139, Núm. 10, pp. 1209-1231

2015

  1. Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: Transactivation and phenotypic variability

    PLoS ONE, Vol. 10, Núm. 3