Publicaciones en colaboración con investigadores/as de Yale School of Medicine (4)

2024

  1. The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease

    International Journal of Molecular Sciences, Vol. 25, Núm. 11

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

  2. Role of guca1c in primary congenital glaucoma and in the retina: Functional evaluation in zebrafish

    Genes, Vol. 11, Núm. 5

2013

  1. Bicarbonate-Dependent Secretion and Proteolytic Processing of Recombinant Myocilin

    PLoS ONE, Vol. 8, Núm. 1