Juan‐Manuel Bonet‐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 · 47 citations · Full text

Medicine, Ophthalmology, Vision Science +14

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

Life Sciences, Genetics, Molecular Genetics +17

Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish

Samuel Morales-Cámara, Susana Alexandre-Moreno, Juan‐Manuel Bonet‐Fernández et al. · Genes · 2020 · 16 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Null cyp1b1 Activity in Zebrafish Leads to Variable Craniofacial Defects Associated with Altered Expression of Extracellular Matrix and Lipid Metabolism Genes

Susana Alexandre-Moreno, Juan‐Manuel Bonet‐Fernández, Raquel Atiénzar-Aroca et al. · International Journal of Molecular Sciences · 2021 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Role of <em>GUCA1C </em>in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish

Samuel Morales-Cámara, Susana Alexandre-Moreno, Juan‐Manuel Bonet‐Fernández et al. · Preprints.org · 2020 · 11 citations · Full text

Medicine, Genetics, Molecular Genetics +17