People / Staff

Eduardo Fidel Tizzano Ferrari

Search publications

Publications

  • Codina-Solà M, Trujillano L, Abulí A, Rovira-Moreno E, Muñoz-Cabello P, Campos B, Fernández-Álvarez P, Palau D, Carrasco E, Valenzuela I, Cueto-González AM, Lasa-Aranzasti A, Limeres J, Leno-Colorado J, Costa-Roger M, Moles-Fernández A, Balmaña J, Díez O, Cuscó I, Garcia-Arumí E and Tizzano E.

    An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.

    EUROPEAN JOURNAL OF HUMAN GENETICS . 31(2): 223-230. Number of citations: 2

    [doi:10.1038/s41431-022-01240-5]

  • Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano E, Spinelli AM, Bruno I, Currò A, Stanzial F, Benedicenti F, Lopergolo D, Santorelli FM, Aristidou C, Tanteles GA, Maystadt I, Tkemaladze T, Reimand T, Lokke H, Õunap K, Haanpää MK, Holubová A, Zoubková V, Schwarz M, Žordania R, Muru K, Roht L, Tihveräinen A, Teek R, Thomson U, Atallah I, Superti-Furga A, Buoni S, Canitano R, Scandurra V, Rossetti A, Grosso S, Battini R, Baldassarri M, Mencarelli MA, Rizzo CL, Bruttini M, Mari F, Ariani F, Renieri A and Pinto AM.

    Natural history of KBG syndrome in a large European cohort.

    HUMAN MOLECULAR GENETICS . 31(24): 4131-4142. Number of citations: 20

    [doi:10.1093/hmg/ddac167]

  • 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): . Number of citations: 12

    [doi:10.3390/genes13091657]

  • 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: 14

    [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: 17

    [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: 12

    [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]