Personas / Equipo Humano

Eduardo Fidel Tizzano Ferrari

Buscador de publicaciones

Publicaciones

  • 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. Nº de citas: 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. Nº de citas: 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): . Nº de citas: 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): . Nº de citas: 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): . Nº de citas: 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 1

    [doi:10.3233/JND-221538]