Persones / Equip Humà

Laura Blasco Perez

Buscador de publicacions

Publicacions

  • Milligan JN, Blasco-Perez L, Costa-Roger M, Codina-Solà M and Tizzano E.

    Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.

    Genes . 13(9): . Nº de cites: 16

    [doi:10.3390/genes13091657]

  • Blasco-Perez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Solà M, Martínez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millán JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillén-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-García R, Povedano M, Cuscó I and Tizzano E.

    Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(15): . Nº de cites: 16

    [doi:10.3390/ijms23158289]

  • Costa-Roger M, Blasco-Perez L, Cuscó I and Tizzano E.

    The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(16): . Nº de cites: 31

    [doi:10.3390/ijms22169029]

  • Blasco-Perez L, Paramonov I, Leno J, Bernal S, Alias L, Fuentes-Prior P, Cuscó I and Tizzano E.

    Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.

    HUMAN MUTATION . 42(6): 787-795. Nº de cites: 35

    [doi:10.1002/humu.24200]

  • Pascual-Alonso A, Blasco-Perez L, Vidal-Falcó S, Gean Molins E, Rubio P, O'Callaghan-Gordo M, Martinez-Monseny T, Castells AA, Xiol-Viñas C, Català V, Brandi-Tarrau N, Pacheco-Fernández P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S and Armstrong-Moron J.

    Molecular characterization of Spanish patients with MECP2 duplication syndrome

    CLINICAL GENETICS . 97(4): 610-620. Nº de cites: 21

    [doi:10.1111/cge.13718]

  • Xiol-Viñas C, Vidal-Falcó S, Pascual-Alonso A, Blasco-Perez L, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, O'Callaghan-Gordo M, Pineda M and Armstrong-Moron J.

    X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

    Scientific Reports . 9: 11983-11983. Nº de cites: 19

    [doi:10.1038/s41598-019-48385-w]

  • Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M and Armstrong-Moron J.

    The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

    Scientific Reports . 7: 12288-12288. Nº de cites: 19

    [doi:10.1038/s41598-017-11620-3]