Research

Neurogenetics and Molecular Medicine

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Publications

  • Madrigal I, Villar-Vera C, Arca G, Exposito-Escudero JM, Rodríguez-Revenga L, Piolatti-Luna A, Muelas N, Vilchez R, Ciutad Celdran M, Codina-Bergadà A, Estévez-Arias B, Carrera-García L, Ortez-Gonzalez CI, Rodriguez-Carunchio L, Sebastiani G, Azorin I, Nascimento-Osorio A, Jou-Munoz C, Vilchez JJ and Natera-de Benito D.

    MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights.

    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY . 51(3): .

    [doi:10.1111/nan.70025]

  • Greene D, De Wispelaere K, Lees J, Codina-Solà M, Jensson BO, Hales E, Katrinecz A, Nieto Molina E, Pascoal S, Pfundt R, Schot R, Sevilla Porras M, Sleutels F, Valenzuela I, Wijngaard R, Arroyo Carrera I, Atton G, Casas-Alba D, Donnelly D, Duat Rodríguez A, Fernández Garoz B, Foulds N, García-Navas Núñez D, González Alguacil E, Jarvis J, Kant SG, Madrigal Bajo I, Martinez-Monseny T, McKee S, Ortiz Cabrera NV, Rodríguez-Revenga Bodi L, Sariego Jamardo A, Stefansson K, Sulem P, Suri M, Van Karnebeek C, Vasudevan P, Vega Pajares AI, Carracedo Á, Engelen M, Lapunzina P, Morgan NP, Morte B, Rump P, Stirrups K, Tizzano EF, Barakat TS, O'Donoghue M, Pérez-Jurado LA, Freson K, Mumford AD and Turro E.

    Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

    NATURE GENETICS . 57(6): 1367-1373. Number of citations: 1

    [doi:10.1038/s41588-025-02159-5]

  • 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]

  • Charach, R, Pérez-Cruz M, Masoller-Casas N, Illa-Armengol M, Monterde, E, Martínez-Crespo, JM, Borrell, A, Gómez-Chiari M, Rebollo M, Borregán M, Gómez, O and Eixarch, E.

    Systematic Ultrasound Evaluation of Olfactory Sulci in Fetuses with Congenital Heart Defects: A Clue for CHARGE Syndrome Diagnosis

    FETAL DIAGNOSIS AND THERAPY . 52(3): 280-290.

    [doi:10.1159/000543190]

  • 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. Number of citations: 1

    [doi:10.1111/cge.14701]

  • Carrera-García L, Exposito-Escudero JM, Ñungo Garzón NC, Pareja A, Fernández-García MA, Ortez-Gonzalez CI, Medina J, Martínez-Salcedo E, Urbano M, Grimalt MA, Munell F, García-Campos Ó, Roca S, Obdulia Moya Arcos, Estévez-Arias B, Balsells S, Frongia AL, Borràs A, Puig-Ram C, García Romero M, Calvo R, López-Lobato M, Pitarch-Castellano I, Natera-de Benito D and Nascimento-Osorio A.

    Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies

    JOURNAL OF NEUROLOGY . 272(5): 331-331.

    [doi:10.1007/s00415-025-13042-y]

  • 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. Number of citations: 1

    [doi:10.1016/j.gim.2025.101385]

  • 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]

  • Lange LM, Levine K, Fox SH, Marras C, Ahmed N, Kuznetsov N, Vitale D, Iwaki H, Lohmann K, Marsili L, Espay AJ, Bauer P, Beetz C, Martin J, Factor SA, Higginbotham LA, Chen H, Leonard H, Nalls MA, Mencacci NE, Morris HR, Singleton AB, Klein C, Blauwendraat C and Fang ZH.

    The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.

    npj Parkinsons Disease . 11(1): 58-58. Number of citations: 2

    [doi:10.1038/s41531-025-00896-2]

  • Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D.

    Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.

    EUROPEAN JOURNAL OF HUMAN GENETICS . 33(2): 239-247. Number of citations: 5

    [doi:10.1038/s41431-024-01699-4]