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Neurogenètica i Medicina Molecular

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Publicacions

  • 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. Nº de cites: 2

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

  • Hernández-Rodríguez J, Martínez-Valle F, Acebes X, Alerany C, Anton-Lopez J, Calvo G, Corral M, Cruz J, Mangues-Bafalluy MA, Mateo J, Rivera J, Salazar A, Francisco R, Mallol C, Reig-Viader R, Tigri-Santiña A, Ricart A and Palau F.

    Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project

    ORPHANET JOURNAL OF RARE DISEASES . 20(1): 42-42.

    [doi:10.1186/s13023-024-03518-x]

  • 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]

  • 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 . : .

    [doi:10.1159/000543190]

  • Vega-Hanna L, Casas-Alba D, Balsells S, Bolasell M, Rubio P, García-García AP, García-García O, O'Callaghan-Gordo M, Pascual-Alonso A, Armstrong-Moron J, Mds Group and Martinez-Monseny T.

    MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables

    Diagnostics . 15(1): .

    [doi:10.3390/diagnostics15010010]

  • Palau F, Cantarero-Abad L, Roldan-Molina M, Rodríguez-Sanz M, Mathison A, Díaz-Osorio Y, Pijuan-Marquilles J, Frías M, Urrutia R and Hoenicka J.

    Abnormal Redox Balance at Membrane Contact Sites Causes Axonopathy in Gdap1-related Charcot-marie-tooth Disease.

    research square . : .

    [doi:10.21203/rs.3.rs-5682984/v1]

  • 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]

  • Amato ME, Balsells S, Martorell-Sampol L, Alcalá-San Martin A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS and Ortigoza-Escobar JD.

    Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 63-72. Nº de cites: 1

    [doi:10.1016/j.ejpn.2024.10.005]

  • Theron A, Alonso-Saladrigues A, Dapena JL, López-Duarte M, Diaz de Heredia C, Verdú-Amorós J, Sarrate E, Esperanza-Cebollada E, Cuatrecasas E, Andreu S, Conde N, Sanchez-Sierra N, Isola I, Camós-Guijosa M, Torrebadell-Burriel M, Rives-Solà S and Català-Temprano A.

    Secondary haematological dysplasia after CAR-T-cell therapy for acute lymphoblastic leukaemia in children

    BRITISH JOURNAL OF HAEMATOLOGY . : 186-194.

    [doi:10.1111/bjh.19862]

  • Di Feo MF, Oghabian A, Nippala E, Gautel M, Jungbluth H, Forzano F, Malfatti E, Castiglioni C, Krey I, Gomez Andres D, Brady AF, Iascone M, Cereda A, Pezzani L, Natera-de Benito D, Nascimento-Osorio A, Estévez-Arias B, Kurbatov SA, Attie-Bitach T, Nampoothiri S, Ryan E, Morrow M, Gorokhova S, Chabrol B, Sinisalo J, Tolppanen H, Tolva J, Munell F, Camacho Soriano J, Sanchez Duran MA, Johari M, Tajsharghi H, Hackman P, Udd B and Savarese M.

    Inferring disease course from differential exon usage in the wide titinopathy spectrum.

    Annals of Clinical and Translational Neurology . 11(10): 2745-2755. Nº de cites: 1

    [doi:10.1002/acn3.52189]