Publicacions en què col·labora amb José Daniel Aroca Aguilar (9)

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

2019

  1. Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma

    PLoS ONE, Vol. 14, Núm. 1

2017

  1. Goniodysgenesis variability and activity of genotypes in primary congenital glaucoma

    PLoS ONE, Vol. 12, Núm. 4

  2. 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

2016

  1. Rare FOXC1 variants in congenital glaucoma: Identification of translation regulatory sequences

    European Journal of Human Genetics, Vol. 24, Núm. 5, pp. 672-680

2015

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

    PLoS ONE, Vol. 10, Núm. 3

  2. The Role of hsa-miR-548l Dysregulation as a Putative Modifier Factor for Glaucoma-Associated FOXC1 Mutations

    MicroRNA (Shāriqah, United Arab Emirates), Vol. 4, Núm. 1, pp. 50-56