Research

Translational Genomics

Search publications

Publications

  • Keck MK, Al-Hussaini M, Amayiri N, Yiadom AAB, Chamyan G, Cheesman E, Faure-Conter C, Garcia-Ariza M, Gauchotte G, Hasselblatt M, Jorgensen M, Kilday JP, Lamas G, Lavarino C, Li MM, Lubieniecki F, Maher OM, Meyronet D, Mueller J, Santi M, Schüller U, Seidinger AL, Sill M, Sudhakar S, García MT, Tauziede-Espariat A, Varlet P, Vasiljevic A, Wittmann A, von Deimling A, Solomon DA, Sahm F, Tietze A, von Hoff K, Sievers P and Jones DTW.

    PLAG1 fusions define a third subtype of CNS embryonal tumor with PLAG family gene alteration.

    ACTA NEUROPATHOLOGICA . 150(1): 12-12.

    [doi:10.1007/s00401-025-02917-z]

  • CastilloSD, Perosanz X, Ressler AK, Ivars M, Rodriguez J, Rovira-Zurriaga C, Nola EM, Llena J, Grego-Bessa J, Roldan-Molina M, Arnau R, Martínez-Romero A, Barber-Martínez de la Torre I, Miguel Bejarano Serrano, Vicente-Villa MA, Celis-Passini V, Salvador-Hernandez H, Mora J, Marchuk DA, Baselga E and Graupera M.

    Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome

    CANCER DISCOVERY . 15(7): 1350-1362. Number of citations: 2

    [doi:10.1158/2159-8290.CD-24-0807]

  • Marina Caballero Bellón, Santa-María López V, Marti-Sanchez L, Martorell-Sampol L, Salinas D, Hinojosa J, Becerra MV, Pavon-Mengual M, Morales-La Madrid A, Cruz-Martínez O, Muchart-Lopez J and Salvador-Hernandez H.

    Very early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease

    JOURNAL OF MEDICAL GENETICS . 62(6): 409-412.

    [doi:10.1136/jmg-2024-110477]

  • Salvador, L, del Valle, J, Dorca, E, Chong, AS, Chong, AL, Valenzuela, JC, Munté, E, Rioja, C, Marti-Sanchez L, Salinas, M, Darder, E, Fabian, MR, Brunet, J, Salvador-Hernandez H, Lázaro, C and Rivera, B.

    DICER1 in pediatric and adult cancer predisposition populations: Prevalence, phenotypes, and mosaicism.

    GENETICS IN MEDICINE . 27(5): 101385-101385.

    [doi:10.1016/j.gim.2025.101385]

  • Balaguer-Lluna L, Gene-Olaciregui N, Aschero MR, Resa-Parés C, Paco-Mercader S, Cuadrado-Vilanova M, Burgeño-Sandoval V, Baulenas-Farrés M, Monterrubio C, Manzanares-Quintela A, Rodriguez E, Lavarino C, Mora J and Carcaboso AM.

    Establishment of xenografts and methods to evaluate tumor burden for the three most frequent subclasses of pediatric-type diffuse high grade gliomas

    JOURNAL OF NEURO-ONCOLOGY . 172(3): 599-611. Number of citations: 1

    [doi:10.1007/s11060-025-04954-w]

  • Zhang D, Sánchez-Espino LF, Ivars M, Pope E, Nopper AJ, Arkin LM, Tollefson MM, Lavarino C, Muldowney M, Gene-Olaciregui N, Paco-Mercader S, Drolet BA and Baselga E.

    Phenotypic Spectrum of GNA11 R183C Mosaicism

    PEDIATRIC DERMATOLOGY . 42(3): 475-480. Number of citations: 1

    [doi:10.1111/pde.15802]

  • Ortega-Bertran S, Fernández-Rodríguez J, Magallón-Lorenz M, Zhang X, Creus-Bachiller E, Diazgranados AP, Uriarte-Arrazola I, Mazuelas H, Blanco I, Valverde C, Carrió M, Villanueva A, De Raedt T, Romagosa C, Gel B, Salvador-Hernandez H, Ferrer M, Lázaro C and Serra E.

    Triple Combination of MEK, BET, and CDK Inhibitors Significantly Reduces Human Malignant Peripheral Nerve Sheath Tumors in Mouse Models

    CLINICAL CANCER RESEARCH . 31(5): 907-920.

    [doi:10.1158/1078-0432.CCR-24-2807]

  • Cristina Larrosa Espinosa, Simao-Rafael M, Salvador-Marcos N, Muñoz JP, Lavarino C, Chantada G and Mora J.

    Case Report: Successful treatment of metastatic retinoblastoma with CNS involvement with anti-GD2 immunotherapy, intrathecal topotecan and reduced systemic chemotherapy

    Frontiers in pediatrics . 12: 1509645-1509645. Number of citations: 1

    [doi:10.3389/fped.2024.1509645]

  • Baulenas-Farrés M, Paco-Mercader S, Marino F, Mohr J, Panisello C, Balaguer-Lluna L, Aschero MR, Cuadrado-Vilanova M, Resa-Parés C, Rodriguez E, Márquez-Pereira JM, Menéndez P, Jou-Munoz C, Benítez R, Benitez-Ribas D, Lavarino C, Mora J and Carcaboso AM.

    Proteins of the cancer cell secretome induce the protumoral microenvironment of diffuse intrinsic pontine glioma

    neuro-oncology advances . 7(1): .

    [doi:10.1093/noajnl/vdaf132]

  • Sentís I, Melero JL, Cebrià A, Grzelak M, Soto M, Michel A, Rovira Q, Rodriguez-Hernandez CJ, Caratù G, Urpi A, Sauvage C, Mendizabal-Sasieta A, Maspero D, Lavarino C, Pascual-Reguant A, Castañeda-Heredia A, Muñoz Perez JP, Mora J, Harari A, Nieto JC, Avgustinova A and Heyn H.

    Spatio-temporal T cell tracking for personalized TCR-T designs in childhood cancer.

    Annals of oncology : official journal of the European Society for Medical Oncology . : .

    [doi:10.1016/j.annonc.2025.05.530]