Publicacions en què col·labora amb Juan Manuel Bonet Fernandez (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

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