Jesús‐José Ferre‐Fernández

CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix

Juan‐Manuel Bonet‐Fernández, José‐Daniel Aroca‐Aguilar, Marta Cortón et al. · Human Genetics · 2020 · 45 citations · Full text

Ocular Disease, Developmental Biology, Retina +7

Hypo- and Hypermorphic FOXC1 Mutations in Dominant Glaucoma: Transactivation and Phenotypic Variability

Cristina Medina‐Trillo, Francisco Sánchez‐Sánchez, José‐Daniel Aroca‐Aguilar et al. · PLoS ONE · 2015 · 34 citations · Full text

Ocular Disease, Genetics, Molecular Biology +17

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

Jesús‐José Ferre‐Fernández, José‐Daniel Aroca‐Aguilar, Cristina Medina‐Trillo et al. · Scientific Reports · 2017 · 30 citations · Full text

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

Cristina Medina‐Trillo, José‐Daniel Aroca‐Aguilar, Jesús‐José Ferre‐Fernández et al. · PLoS ONE · 2019 · 23 citations · Full text

Ocular Disease, Genetics, Genetic Epidemiology +16

Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome

Jesús‐José Ferre‐Fernández, Samuel Thompson, Ross F. Collery et al. · Human Molecular Genetics · 2020 · 20 citations · Full text

Foxc1 Expression, Genetics, Molecular Genetics +24