Research

Human Molecular Genetics II

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Publications

  • Navas-Pérez E, Vicente-García C, Mirra S, Burguera D, Fernandez-Castillo N, Ferrán JL, López-Mayorga M, Alaiz-Noya M, Suárez-Pereira I, Antón-Galindo E, Ulloa F, Herrera-Úbeda C, Cuscó P, Falcón-Moya R, Rodríguez-Moreno A, D'Aniello S, Cormand B, Marfany G, Soriano E, Carrión ÁM, Carvajal JJ and Garcia-Fernàndez J.

    Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions.

    Genome Biology . 21(1): 267-267. Number of citations: 12

    [doi:10.1186/s13059-020-02172-3]

  • Domènech EB, Andres R, Lopez MJ, Mirra S, García-Arroyo R, Milla S, Sava F, Andilla J, Loza-Álvarez P, de la Villa P, Gonzalez R and Marfany G.

    A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype.

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE . 61(8): 14-14. Number of citations: 15

    [doi:10.1167/iovs.61.8.14]

  • Mirra S, Marfany G and Garcia-Fernàndez J.

    Under pressure: Cerebrospinal fluid contribution to the physiological homeostasis of the eye.

    SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY . 102: 40-47. Number of citations: 3

    [doi:10.1016/j.semcdb.2019.11.003]

  • B Domènech E and Marfany G.

    The Relevance of Oxidative Stress in the Pathogenesis and Therapy of Retinal Dystrophies.

    ANTIOXIDANTS . 9(4): . Number of citations: 118

    [doi:10.3390/antiox9040347]

  • Toulis V, Cortés-González V, Castro-Miró M, Sallum JF, Català-Mora J, Villanueva-Mendoza C, Ciccioli M, Gonzalez R, Valero R and Marfany G.

    Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

    GENES . 11(4): 378-378. Number of citations: 13

    [doi:10.3390/genes11040378]

  • Toulis V and Marfany G.

    By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System.

    Advances in Experimental Medicine and Biology . 1233: 303-310. Number of citations: 5

    [doi:10.1007/978-3-030-38266-7_13]

  • Esquerdo-Barragán M, Brooks MJ, Toulis V, Swaroop A and Marfany G.

    Expression of deubiquitinating enzyme genes in the developing mammal retina.

    MOLECULAR VISION . 25: 800-813. Number of citations: 8

  • Valero R, De-Castro M, Jiménez-Ochoa S, Rodríguez-Ezcurra JJ, Marfany G and Gonzalez R.

    Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1

    GENES . 10(10): . Number of citations: 15

    [doi:10.3390/genes10100732]

  • Bolinches-Amorós A, León M, Del Buey Furió V, Marfany G, Gonzalez R, Erceg S and Lukovic D.

    Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling.

    STEM CELL RESEARCH . 38: 101455-101455. Number of citations: 6

    [doi:10.1016/j.scr.2019.101455]

  • Trigueros S, Domènech EB, Toulis V and Marfany G.

    In Vitro Gene Delivery in Retinal Pigment Epithelium Cells by Plasmid DNA-Wrapped Gold Nanoparticles.

    GENES . 10(4): . Number of citations: 35

    [doi:10.3390/genes10040289]