Research

Human Molecular Genetics II

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Publications

  • Carpi LC, Schieber TA, Pardalos PM, Marfany G, Masoller C, Díaz-Guilera A and Ravetti MG.

    Assessing diversity in multiplex networks.

    SCIENTIFIC REPORTS . 9(1): 4511-4511. Number of citations: 27

    [doi:10.1038/s41598-019-38869-0]

  • Mirra S and Marfany G.

    Mitochondrial Gymnastics in Retinal Cells: A Resilience Mechanism Against Oxidative Stress and Neurodegeneration.

    Advances in Experimental Medicine and Biology . 1185: 513-517. Number of citations: 16

    [doi:10.1007/978-3-030-27378-1_84]

  • Gonzalez R, De-Castro M, Tuson M, Ramírez-Castañeda V, Gils RV and Marfany G.

    Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies.

    Advances in Experimental Medicine and Biology . 1185: 215-219. Number of citations: 8

    [doi:10.1007/978-3-030-27378-1_35]

  • Arenas-Galnares R, Castillo-Lara S, Toulis V, Boloc D, Gonzalez R, Marfany G and Abril JF.

    RPGeNet v2.0: expanding the universe of retinal disease gene interactions network.

    DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION . 2019: . Number of citations: 2

    [doi:10.1093/database/baz120]

  • De-Castro M, Tonda R, Marfany G, Casaroli-Marano RP and Gonzalez R.

    Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.

    BRITISH JOURNAL OF OPHTHALMOLOGY . 102(10): 1378-1386. Number of citations: 7

    [doi:10.1136/bjophthalmol-2017-311427]

  • Baez-Duarte BG, Zamora-Gínez I, Gonzalez R, Torres-Rasgado E, Ruiz-Vivanco G, Pérez-Fuentes R and Celis TMRGOD.

    Triglyceride/high-density lipoprotein cholesterol (TG/HDL-C) index as a reference criterion of risk for metabolic syndrome (MetS) and low insulin sensitivity in apparently healthy subjects

    GACETA MEDICA DE MEXICO . 153(2): 152-158. Number of citations: 26

  • Albuixech-Crespo B, Herrera-Úbeda C, Marfany G, Irimia M and Garcia-Fernàndez J.

    Origin and evolution of the chordate central nervous system: insights from amphioxus genoarchitecture.

    INT J DEV BIOL . 61(10-11-12): 655-664. Number of citations: 10

    [doi:10.1387/ijdb.170258jg]

  • De-Castro M, Tonda R, Escudero-Ferruz P, Andres R, Mayor-Lorenzo A, Castro J, Ciccioli M, Hidalgo DA, Rodríguez-Ezcurra JJ, Farrando J, Pérez-Santonja JJ, Cormand B, Marfany G and Gonzalez R.

    Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

    PLoS One . 11(12): . Number of citations: 43

    [doi:10.1371/journal.pone.0168966]

  • Esquerdo M, Grau-Bové X, Garanto A, Toulis V, Garcia-Monclús S, Millo E, Lopez MJ, Abad V, Ruiz-Trillo I and Marfany G.

    Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic Roles.

    PLoS One . 11(3): . Number of citations: 9

    [doi:10.1371/journal.pone.0150364]

  • Masoumi KC, Marfany G, Wu Y and Massoumi R.

    Putative role of SUMOylation in controlling the activity of deubiquitinating enzymes in cancer.

    FUTURE ONCOLOGY . 12(4): 565-574. Number of citations: 10

    [doi:10.2217/fon.15.320]