Publicacions en col·laboració amb investigadors/es de Instituto de Investigación Sanitaria La Fe (6)

2021

  1. Optic nerve head vessel density assessment in recovered COVID-19 patients: A prospective study using optical coherence tomography angiography

    Journal of Glaucoma, Vol. 30, Núm. 8, pp. 711-717

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

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. 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