Personas / Equipo Humano

Guerau Fernandez Isern

Buscador de publicaciones

Publicaciones

  • Pascual-Rodriguez A, Moulka, T, de Fàbregues, O, Repossi, R, García-Ruiz, PJ, Ortolano, S, De Lucca, M, Vela-Desojo, L, Alves-Villar, M, Frías, M, Feliz-Feliz, C, Roldan-Molina M, Olival, J, Fernandez-Isern G, Palau F, Pijuan-Marquilles J and Hoenicka J.

    Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 26(19): .

    [doi:10.3390/ijms26199454]

  • Domínguez-Rovira X, Arnau-Collell C, Gonfaus-Ortiz G, Llargués-Sistac G, Muñoz J, Llopis A, Soares de Lima Y, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Cuatrecasas M, Carballal S, López-Novo A, Fernandez-Isern G, Castells A, Bujanda L, Capellà G, Cubiella J, Rodríguez-Alcalde D, Valle L, Balaguer F, Ruiz-Ponte C, Bonjoch L and Castellví-Bel S.

    Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome

    INTERNATIONAL JOURNAL OF CANCER . 157(6): 1154-1167.

    [doi:10.1002/ijc.35492]

  • Vicente-Garces C, Fernandez-Isern G, Esperanza-Cebollada E, Richarte M, Crespo-Carrasco A, Montesdeoca S, Isola I, Sarrate E, Cuatrecasas E, Rives-Solà S, Dapena JL, Camós-Guijosa M and Vega-García N.

    RNA-sequencing: A reliable tool to unveil transcriptional landscape of paediatric B-other acute lymphoblastic leukaemia

    BRITISH JOURNAL OF HAEMATOLOGY . 206(5): 1355-1365.

    [doi:10.1111/bjh.20056]

  • Llargués-Sistac G, Bonjoch L, Muñoz J, Domínguez-Rovira X, Ocaña T, Alvarez-Mora MI, Badenas C, Esteve-Codina A, Reyes-Silva C, Jaramillo-Koupermann G, Rodrigo MT, López-Prades S, Cuatrecasas M, Castells A, Balaguer F, Moreira L, Fernandez-Isern G and Castellví-Bel S.

    Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador

    npj Genomic Medicine . 10(1): 3-3.

    [doi:10.1038/s41525-025-00462-y]

  • Llach J, Luzko I, Earl J, Barreto E, Rodríguez-Garrote M, Lleixà M, Herrera-Pariente C, Fernandez-Isern G, Munoz J, Bonjoch L, Saurí T, Ausania F, Ocaña T, Moreno L, Grau E, Oriola J, Alvarez-Mora MI, Herreros-Villanueva M, Castellví-Bel S, Balaguer F, Bujanda L and Moreira L.

    Should We Offer Universal Germline Genetic Testing to All Patients with Pancreatic Cancer? A Multicenter Study.

    Cancers . 16(22): .

    [doi:10.3390/cancers16223779]

  • Herrera-Pariente C, Bonjoch L, Muñoz J, Fernandez-Isern G, Soares de Lima Y, Mahmood R, Cuatrecasas M, Ocaña T, Lopez-Prades S, Llargués-Sistac G, Domínguez-Rovira X, Llach J, Luzko I, Díaz-Gay M, Lazaro C, Brunet J, Castillo-Manzano C, García-González MA, Lanas A, Carrillo M, Hernández San Gil R, Quintero E, Sala N, Llort G, Aguilera L, Carot L, Diez-Redondo P, Jover R, Ramon Y Cajal T, Cubiella J, Castells A, Balaguer F, Bujanda L, Castellví-Bel S and Moreira L.

    CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions

    Gastric Cancer . 27(4): 747-759. Nº de citas: 5

    [doi:10.1007/s10120-024-01504-7]

  • 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. Nº de citas: 4

    [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 citas: 3

    [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 citas: 2

    [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]