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Publications

  • Martínez-Barrios E, Greco A, Cruzalegui JC, César-Díaz S, Nuria Díez Escuté, Patricia Cerralbo Martín, Chipa F, Zschaeck-Luzardo I, Slanovic L, Mangas A, Toro R, Brugada-Terradellas J, Sarquella-Brugada G and Campuzano O.

    Interpreting the actionable clinical role of rare variants associated with short QT syndrome.

    HUMAN GENETICS . 143(12): 1499-1508.

    [doi:10.1007/s00439-024-02713-x]

  • Martínez-Barrios E, Greco A, Cruzalegui JC, César-Díaz S, Nuria Díez Escuté, Patricia Cerralbo Martín, Chipa F, Zschaeck-Luzardo I, Fogaça-da-Mata M, Díez-López C, Arbelo E, Grassi S, Oliva A, Toro R, Sarquella-Brugada G and Campuzano O.

    Actionable Variants of Unknown Significance in Inherited Arrhythmogenic Syndromes: A Further Step Forward in Genetic Diagnosis.

    Biomedicines . 12(11): .

    [doi:10.3390/biomedicines12112553]

  • de Frutos F, Ochoa JP, Webster G, Jansen M, Remior P, Rasmussen TB, Sabater-Molina M, Barriales-Villa R, Girolami F, César-Díaz S, Fuentes-Cañamero ME, Alvarez García-Rovés R, Wahbi K, Limeres J, Kubanek M, Slieker MG, Sarquella-Brugada G, Abrams DJ, Dooijes D, Domínguez F and Garcia-Pavia P.

    Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy.

    JOURNAL OF THE AMERICAN HEART ASSOCIATION . 13(21): .

    [doi:10.1161/JAHA.124.036208]

  • Sarquella-Brugada G, Martínez-Barrios E, César-Díaz S, Toro R, Cruzalegui JC, Greco A, Nuria Díez Escuté, Patricia Cerralbo Martín, Chipa F, Arbelo E, Diez-López C, Grazioli G, Balderrábano N and Campuzano O.

    A narrative review of inherited arrhythmogenic syndromes in young population: role of genetic diagnosis in exercise recommendations.

    BMJ OPEN SPORT & EXERCISE MEDICINE . 10(3): .

    [doi:10.1136/bmjsem-2023-001852]

  • Olorón, PM, Alegría, I, César-Díaz S, del Olmo, B, Martínez-Barrios E, Carrera-García L, Natera-de Benito D, Nascimento-Osorio A, Campuzano, O and Sarquella-Brugada G.

    Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(11): .

    [doi:10.3390/ijms25115836]

  • Fogaça-da-Mata M, Martínez-Barrios E, Jiménez-Montañés L, Cruzalegui JC, Chipa-Ccasani F, Greco A, César-Díaz S, Nuria Díez Escuté, Patricia Cerralbo Martín, Zschaeck-Luzardo I, Clavero Adell M, Ayerza-Casas A, Palanca-Arias D, López M, Campuzano O, Brugada-Terradellas J and Sarquella-Brugada G.

    Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?

    GENES . 15(5): .

    [doi:10.3390/genes15050638]

  • Pérez-Serra A, Toro R, Martínez-Barrios E, Iglesias A, Fernandez-Falgueras A, Alcalde M, Coll M, Puigmulé M, Del Olmo B, Picó F, Lopez L, Arbelo E, César-Díaz S, Llano CT, Mangas A, Brugada-Terradellas J, Sarquella-Brugada G, Brugada R and Campuzano O.

    Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(7): . Number of citations: 1

    [doi:10.3390/ijms25073807]

  • Marina Pons Espinal, Clotet-Caba J, César-Díaz S and Yubero-Siles D.

    Arrhythmias in patients with X-linked myotubular myopathy

    REVISTA DE NEUROLOGIA . 77(3): 79-81. Number of citations: 1

    [doi:10.33588/rn.7703.2022222]

  • Nuria Díez Escuté, Arbelo E, Martínez-Barrios E, Patricia Cerralbo Martín, César-Díaz S, Cruzalegui JC, Chipa F, Fiol JV, Zschaeck-Luzardo I, Hernández-Cera C, Campuzano O and Sarquella-Brugada G.

    Sex differences in long QT syndrome.

    frontiers in cardiovascular medicine . 10: 1164028-1164028. Number of citations: 5

    [doi:10.3389/fcvm.2023.1164028]

  • César-Díaz S, Coll, M, Fiol JV, Fernandez-Falgueras, A, Cruzalegui JC, Iglesias, A, Moll I, Perez-Serra, A, Martínez-Barrios E, Ferrer-Costa, C, del Olmo, B, Puigmulè, M, Alcalde, M, Lopez, L, Pico, F, Berrueco R, Brugada-Terradellas J, Zschaeck-Luzardo I, Natera-de Benito D, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Brugada, R, Sarquella-Brugada G and Campuzano, O.

    LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

    Frontiers in Genetics . 14: 1135438-1135438. Number of citations: 4

    [doi:10.3389/fgene.2023.1135438]