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

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

2017

  1. Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development

    Scientific Reports, Vol. 7

2011

  1. WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: Analysis of gene-gene interactions

    Investigative Ophthalmology and Visual Science, Vol. 52, Núm. 11, pp. 8467-8478