People / Staff

Eduardo Fidel Tizzano Ferrari

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Publications

  • Lucia-Campos C, Valenzuela I, Latorre-Pellicer A, Ros-Pardo D, Gil-Salvador M, Arnedo M, Puisac B, Castells N, Plaja A, Tenes A, Cuscó I, Trujillano L, Ramos FJ, Tizzano E, Gómez-Puertas P and Pié J.

    A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.

    GENES . 13(8): . Number of citations: 2

    [doi:10.3390/genes13081413]

  • 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): . Number of citations: 13

    [doi:10.3390/ijms23158289]

  • Fernández-Álvarez P, Codina-Sola M, Valenzuela I, Teixidó-Turá G, Cueto-González A, Paramonov I, Antolín M, López-Grondona F, Vendrell T, Evangelista A, García-Arumí E and Tizzano E.

    A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.

    JOURNAL OF MEDICAL GENETICS . 59(6): 605-612. Number of citations: 7

    [doi:10.1136/jmedgenet-2020-107604]

  • Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S.

    Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

    JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542. Number of citations: 13

    [doi:10.1016/j.jmoldx.2022.02.003]

  • Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.

    CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

    CLINICAL GENETICS . 101(5-6): 481-493. Number of citations: 11

    [doi:10.1111/cge.14113]

  • Valenzuela I, Guillén Benítez E, Sanchez-Montanez A, Limeres J, López-Grondona F, Cuscó I and Tizzano E.

    Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 188(3): 991-995. Number of citations: 4

    [doi:10.1002/ajmg.a.62596]

  • Tizzano E, Christie-Brown V, Baranello G, Germanenko O, Gray A, Krstic M, Lilien C, Patel H, Servais L and Scoto M.

    Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative.

    Journal of neuromuscular diseases . 9(6): 809-820. Number of citations: 1

    [doi:10.3233/JND-221538]

  • Mercuri E, Deconinck N, Mazzone ES, Nascimento-Osorio A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW and SUNFISH Study Group.

    Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.

    LANCET NEUROLOGY . 21(1): 42-52. Number of citations: 131

    [doi:10.1016/S1474-4422(21)00367-7]

  • Boemer F, Caberg JH, Beckers P, Dideberg V, di Fiore S, Bours V, Marie S, Dewulf J, Marcelis L, Deconinck N, Daron A, Blasco-Perez L, Tizzano E, Hiligsmann M, Lombet J, Pereira T, Lopez-Granados L, Shalchian-Tehran S, van Assche V, Willems A, Huybrechts S, Mast B, van Olden R, Dangouloff T and Servais L.

    Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.

    SCIENTIFIC REPORTS . 11(1): 19922-19922. Number of citations: 48

    [doi:10.1038/s41598-021-99496-2]

  • Bernal S, Pelaez I, Alias L, Baena M, De Pablo-Moreno JA, Serrano LJ, Camero MD, Tizzano E, Berrueco R and Liras A.

    High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(18): 9705. Number of citations: 10

    [doi:10.3390/ijms22189705]