Research

Leukaemia and Paediatric Haematology Disorders

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Publications

  • Payán-Pernía S, Ruiz-Llobet A, Remacha Sevilla ÁF, Egido J, Ballarín Castán JA and Moreno JA.

    Sickle cell nephropathy. Clinical manifestations and new mechanisms involved in kidney injury.

    nefrologia . 41(4): 373-382.

    [doi:10.1016/j.nefroe.2021.10.001]

  • Sahoo SS, Pastor VB, Goodings C, Voss RK, Kozyra EJ, Szvetnik A, Noellke P, Dworzak M, Starý J, Locatelli F, Masetti R, Schmugge M, De Moerloose B, Català-Temprano A, Kállay K, Turkiewicz D, Hasle H, Buechner J, Jahnukainen K, Ussowicz M, Polychronopoulou S, Smith OP, Fabri O, Barzilai S, de Haas V, Baumann I, Schwarz-Furlan S, European Working Group of MDS in Children (EWOG-MDS), Niewisch MR, Sauer MG, Burkhardt B, Lang P, Bader P, Beier R, Müller I, Albert MH, Meisel R, Schulz A, Cario G, Panda PK, Wehrle J, Hirabayashi S, Derecka M, Durruthy-Durruthy R, Göhring G, Yoshimi-Noellke A, Ku M, Lebrecht D, Erlacher M, Flotho C, Strahm B, Niemeyer CM and Wlodarski MW.

    Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.

    NATURE MEDICINE . 27(10): 1806-1817. Number of citations: 92

    [doi:10.1038/s41591-021-01511-6]

  • Fernandez-Sojo J, Azqueta C, Valdivia E, Martorell L, Medina-Boronat L, Martínez-Llonch N, Torrents S, Codinach M, Canals C, Elorza-Alvarez I, Parody R, Martino R, Trabazo M, Díaz de Heredia C, Ferra C, Valcárcel D, Linares M, Ancochea Á, García-Rey E, García-Muñoz N, Medina L, Castillo N, Carreras E, Villa J and Querol S.

    Cryopreservation of unrelated donor hematopoietic stem cells: the right answer for transplantations during the COVID-19 pandemic?

    BONE MARROW TRANSPLANTATION . 56(10): 2489-2496. Number of citations: 17

    [doi:10.1038/s41409-021-01367-x]

  • Viñas-Giménez L, Rincón R, Colobran R, de la Cruz X, Celis-Passini V, Dapena JL, Alsina L, Sayós J and Martínez-Gallo M.

    Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis

    FRONTIERS IN IMMUNOLOGY . 12: 723836-723836. Number of citations: 3

    [doi:10.3389/fimmu.2021.723836]

  • Sevilla J, Navarro S, Rio P, Sánchez-Domínguez R, Zubicaray J, Gálvez E, Merino E, Sebastián E, Azqueta C, Casado JA, Segovia JC, Alberquilla O, Bogliolo M, Román-Rodríguez FJ, Giménez Y, Larcher L, Salgado R, Pujol RM, Hladun R, Castillo A, Soulier J, Querol S, Fernández J, Schwartz J, García de Andoín N, López R, Català-Temprano A, Surralles J, Díaz-de-Heredia C and Bueren JA.

    Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes.

    Molecular Therapy-Methods & Clinical Development . 22: 66-75. Number of citations: 10

    [doi:10.1016/j.omtm.2021.06.001]

  • Bernal S, Pelaez I, Alias L, Baena M, De Pablo-Moreno JA, Serrano LJ, Camero MD, Tizzano EF, 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: 9

    [doi:10.3390/ijms22189705]

  • Trifunov S, Paredes-Fuentes AJ, Badosa-Gallego MC, Codina-Bergadà A, Montoya C, Ruiz-Pesini E, Jou-Munoz C, Garrabou G, Grau-Junyent JM, Yubero-Siles D, Montero-Sanchez R, Muchart-Lopez J, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Català-Temprano A, Garcia-Cazorla A, Jimenez-Mallebrera C and Artuch-Iriberri R.

    Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases

    CLINICAL CHEMISTRY . 67(8): 1113-1121. Number of citations: 9

    [doi:10.1093/clinchem/hvab091]

  • Ramírez MJ, Pujol R, Trujillo-Quintero JP, Minguillón J, Bogliolo M, Río P, Navarro S, Casado JA, Badell I, Carrasco E, Balmaña J, Català-Temprano A, Sevilla J, Beléndez C, Argilés B, López M, de Heredia CD, Rao G, Nicoletti E, Schwartz JD, Bueren JA and Surrallés J.

    Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients.

    AMERICAN JOURNAL OF HEMATOLOGY . 96(8): 989-999. Number of citations: 12

    [doi:10.1002/ajh.26234]

  • Niemeyer CM, Flotho C, Lipka DB, Starý J, Rössig C, Baruchel A, Klingebiel T, Micalizzi C, Michel G, Nysom K, Rives-Solà S, Schmugge Liner M, Zecca M, Schönung M, Baumann I, Nöllke P, Benettaib B, Biserna N, Poon J, Simcock M, Patturajan M, Menezes D, Gaudy A, van den Heuvel-Eibrink MM and Locatelli F.

    Response to upfront azacitidine in juvenile myelomonocytic leukemia in the AZA-JMML-001 trial

    blood advances . 5(14): 2901-2908. Number of citations: 30

    [doi:10.1182/bloodadvances.2020004144]

  • Payan-Pernia, S, Ruiz-Llobet A, Sevilla, AFR, Egido, J, Castan, JAB and Moreno, JA.

    Sickle cell nephropathy. Clinical manifestations and new mechanisms involved in kidney injury

    Nefrologia . 41(4): 373-382. Number of citations: 2

    [doi:10.1016/j.nefro.2020.10.012]