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Publicacions

  • Vicente-Garces C, Maynou-Fernández J, Fernandez-Isern G, Esperanza-Cebollada E, Torrebadell-Burriel M, Català-Temprano A, Rives-Solà S, Camós-Guijosa M and Vega-García N.

    Fusion InPipe, an integrative pipeline for gene fusion detection from RNA-seq data in acute pediatric leukemia

    Frontiers in Molecular Biosciences . 10: 1141310-1141310.

    [doi:10.3389/fmolb.2023.1141310]

  • Soares de Lima Y, Arnau-Collell C, Muñoz J, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Franch-Expósito S, Cuatrecasas M, Carballal S, Lopez-Novo A, Moreno L, Fernandez-Isern G, Díaz de Bustamante A, Peters S, Sommer AK, Spier I, Te Paske IBAW, van Herwaarden YJ, Castells A, Bujanda L, Capellà G, Steinke-Lange V, Mahmood K, Joo JE, Arnold J, Parry S, Macrae FA, Winship IM, Rosty C, Cubiella J, Rodríguez-Alcalde D, Holinski-Feder E, de Voer R, Buchanan DD, Aretz S, Ruiz-Ponte C, Valle L, Balaguer F, Bonjoch L and Castellvi-Bel S.

    Germline mutations in WNK2 could be associated with serrated polyposis syndrome.

    JOURNAL OF MEDICAL GENETICS . 60(6): 557-567. Nº de cites: 1

    [doi:10.1136/jmg-2022-108684]

  • Amato, ME, Ricart S, Vicente-Villa MA, Martorell-Sampol L, Armstrong-Moron J, Fernandez-Isern G, Mascaro, JM, Balsells S, Alonso, I, Serrano M and Ortigoza-Escobar JD.

    Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

    clinical case reports . 11(4): . Nº de cites: 1

    [doi:10.1002/ccr3.7275]

  • Figuerola-Bou E, Rios-Astorch C, Blanco E, Sanchez-Jimenez M, Táboas-Outón P, Fernandez-Isern G, Gomez-Gonzalez S, Muñoz-Aznar O, Castellano P, Pérez-Jaume S, Prada-Varela E, Mateo-Lozano S, Riggi N, Avgustinova A, Lavarino C, Di Croce L, Sánchez-Molina S and Mora J.

    KDM6 demethylases mediate EWSR1-FLI1-driven oncogenic transformation in Ewing Sarcoma

    Biorxiv . : .

    [doi:10.1101/2023.01.24.524910]

  • Rubies C, Batlle M, Sanz-de la Garza M, Dantas AP, Jorba I, Fernandez-Isern G, Sangüesa G, Abuli M, Brugada J, Sitges M, Navajas D, Mont L and Guasch E.

    Long-Term Strenuous Exercise Promotes Vascular Injury by Selectively Damaging the Tunica Media Experimental Evidence

    JACC-BASIC TO TRANSLATIONAL SCIENCE . 7(7): 681-693. Nº de cites: 6

    [doi:10.1016/j.jacbts.2022.02.017]

  • Fernandez-Isern G, Yubero-Siles D, Palau F and Armstrong-Moron J.

    Molecular Modelling Hurdle in the Next-Generation Sequencing Era

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(13): .

    [doi:10.3390/ijms23137176]

  • Brugnara L, García AI, Murillo S, Ribalta J, Fernandez-Isern G, Marquez S, Rodriguez MA, Vinaixa M, Amigó N, Correig X, Kalko S, Pomes J and Novials A.

    Muscular carnosine is a marker for cardiorespiratory fitness and cardiometabolic risk factors in men with type 1 diabetes

    EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY . 122(6): 1429-1440.

    [doi:10.1007/s00421-022-04929-z]

  • Yubero-Siles D, Natera-de Benito D, Pijuan-Marquilles J, Armstrong-Moron J, Martorell-Sampol L, Fernandez-Isern G, Maynou-Fernández J, Jou-Munoz C, Roldan-Molina M, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.

    The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(8): 4274. Nº de cites: 6

    [doi:10.3390/ijms22084274]

  • Paules C, Youssef L, Miranda J, Crovetto F, Estanyol JM, Fernandez-Isern G, Fàtima Crispi Brillas and Gratacós E.

    Maternal proteomic profiling reveals alterations in lipid metabolism in late-onset fetal growth restriction

    SCIENTIFIC REPORTS . 10(1): 21033-21033. Nº de cites: 9

    [doi:10.1038/s41598-020-78207-3]

  • Vega-García N, Benito R, Esperanza-Cebollada E, Llop M, Robledo C, Vicente-Garces C, Alonso J, Barragán E, Fernandez-Isern G, Hernández-Sánchez JM, Martín-Izquierdo M, Maynou-Fernández J, Minguela A, Montaño A, Ortega M, Torrebadell-Burriel M, Cervera J, Sánchez J, Jiménez-Velasco A, Riesco S, Hernández-Rivas JM, Lassaletta Á, Fernández JM, Rives-Solà S, Dapena JL, Ramírez M and Camós-Guijosa M.

    Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia

    Journal of Personalized Medicine . 10(4): 244. Nº de cites: 1

    [doi:10.3390/jpm10040244]