Publications in collaboration with researchers from Centro de Investigación Príncipe Felipe (5)

2021

  1. Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells

    Frontiers in Neuroscience, Vol. 15

2020

  1. Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1

    Scientific Reports, Vol. 10, Núm. 1

2016

  1. Identification of the photoreceptor transcriptional Co-Repressor SAMD11 as novel cause of autosomal recessive retinitis pigmentosa

    Scientific Reports, Vol. 6

2015

  1. Human iPSC derived disease model of MERTK-associated retinitis pigmentosa

    Scientific Reports, Vol. 5

  2. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

    Human Molecular Genetics, Vol. 24, Núm. 14, pp. 4037-4048