People / Staff

Eduardo Fidel Tizzano Ferrari

Search publications

Publications

  • Trujillano L, Valenzuela I, Costa-Roger M, Cuscó I, Fernandez-Alvarez P, Cueto-González A, Lasa-Aranzasti A, Masotto B, Abulí A, Codina-Solà M, Del Campo M, Ruiz Moreno JA, Pardo Domínguez C, Palma Milla C, Pérez de la Fuente R, Quesada-Espinosa JF, Núñez-Enamorado N, Gener B, Ballesta-Martínez MJ, Brea-Fernández AJ, Fernández-Prieto M, Trujillo-Quintero JP, Ruiz A, Santos-Simarro F, Rosello M, Orellana C, Martinez F, Martinez-Monseny T, Casas-Alba D, Serrano M, Palomares-Bralo M, Rikeros-Orozco E, Gómez-Cano MÁ, Tirado-Requero P, Pié Juste J, Ramos FJ, García-Arumí E and Tizzano E.

    Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome

    CLINICAL GENETICS . 107(6): 646-662.

    [doi:10.1111/cge.14701]

  • Pérez-Vidarte F, Estévez-Arias B, Matalonga L, Yubero-Siles D, Codina-Bergadà A, Ortez-Gonzalez CI, Medina J, De Sena-De Cabo L, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Tizzano E, Nascimento-Osorio A and Natera-de Benito D.

    Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

    Annals of Clinical and Translational Neurology . : .

    [doi:10.1002/acn3.70088]

  • Xunclà M, Sánchez-Durán MÁ, Rey N, Serrano M, Martínez PA, Trobo L, Camacho Soriano J, Plaja A, Castells-Sarret N, Rigola MÀ, García-Arumí E and Tizzano E.

    Case Report: Androgenetic/biparental chimera with two biparental cell lines leading to placental mesenchymal dysplasia: a possible novel mechanism of formation

    HUMAN REPRODUCTION . 40(5): 962-970.

    [doi:10.1093/humrep/deaf038]

  • Zwartkruis MM, Elferink MG, Gommers D, Signoria I, Blasco-Pérez L, Costa-Roger M, van der Sel J, Renkens IJ, Green JW, Kortooms JV, Vermeulen C, Straver R, van Deutekom HWM, Veldink JH, Asselman F, Tizzano E, Wadman RI, van der Pol WL, van Haaften GW and Groen EJN.

    Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy

    GENOME MEDICINE . 17(1): 26-26. Number of citations: 1

    [doi:10.1186/s13073-025-01448-2]

  • Barbero AIS, Valenzuela I, Fernández-Alvarez P, Vazquez É, Cueto-Gonzalez AM, Lasa-Aranzasti A, Trujillano L, Masotto B, Arumí EG and Tizzano E.

    New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 197(3): . Number of citations: 1

    [doi:10.1002/ajmg.a.63905]

  • Valenzuela I, Codina-Solà M, Vazquez E, Cueto-González A, Leno-Colorado J, Lasa-Aranzasti A, Trujillano L, Masotto B, Masas M, Escobar M, García-Arumí E and Tizzano E.

    Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

    GENETICS IN MEDICINE . 26(12): 101288-101288. Number of citations: 4

    [doi:10.1016/j.gim.2024.101288]

  • Brown SM, Ajjarapu AS, Ramachandra D, Blasco-Pérez L, Costa-Roger M, Tizzano E, Sumner CJ and Mathews KD.

    Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy.

    Annals of Clinical and Translational Neurology . 11(11): 3042-3046. Number of citations: 2

    [doi:10.1002/acn3.52213]

  • Tizzano E, Quijano-Roy S, Servais L, Parsons JA, Aharoni S, Lakhotia A and Finkel RS.

    Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 18-24. Number of citations: 2

    [doi:10.1016/j.ejpn.2024.08.006]

  • Haghshenas S, Putoux A, Reilly J, Levy MA, Relator R, Ghosh S, Kerkhof J, McConkey H, Edery P, Lesca G, Besson A, Coubes C, Willems M, Ruiz-Pallares N, Barat-Houari M, Tizzano E, Valenzuela I, Sabbagh Q, Clayton-Smith J, Jackson A, O'Sullivan J, Bromley R, Banka S, Genevieve D and Sadikovic B.

    Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.

    GENETICS IN MEDICINE . 26(10): 101226-101226. Number of citations: 2

    [doi:10.1016/j.gim.2024.101226]

  • Vazquez N, Lee C, Valenzuela I, Phan TP, Derderian C, Chávez M, Mooney NA, Demeter J, Aziz-Zanjani MO, Cusco I, Codina M, Martinez-Gil N, Valverde D, Solarat C, Buel AL, Thauvin-Robinet C, Steichen E, Filges I, Joset P, De Geyter J, Vaidyanathan K, Gardner T, Toriyama M, Marcotte EM, Roberson EC, Jackson PK, Reiter JF, Tizzano E and Wallingford JB.

    The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

    Biorxiv . : .

    [doi:10.1101/2024.09.25.614984]