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Page 1
Actionable Variants of Unknown Significance in Inherited Arrhythmogenic Syndromes: A Further Step Forward in Genetic Diagnosis.
Martínez-Barrios E, Greco A, Cruzalegui J, Cesar S, Díez-Escuté N, Cerralbo P, Chipa F, Zschaeck I, Fogaça-da-Mata M, Díez-López C, Arbelo E, Grassi S, Oliva A, Toro R, Sarquella-Brugada G, Campuzano O. Martínez-Barrios E, et al. Among authors: zschaeck i. Biomedicines. 2024 Nov 8;12(11):2553. doi: 10.3390/biomedicines12112553. Biomedicines. 2024. PMID: 39595119 Free PMC article.
Interpreting the actionable clinical role of rare variants associated with short QT syndrome.
Martínez-Barrios E, Greco A, Cruzalegui J, Cesar S, Díez-Escuté N, Cerralbo P, Chipa F, Zschaeck I, Slanovic L, Mangas A, Toro R, Brugada J, Sarquella-Brugada G, Campuzano O. Martínez-Barrios E, et al. Among authors: zschaeck i. Hum Genet. 2024 Dec;143(12):1499-1508. doi: 10.1007/s00439-024-02713-x. Epub 2024 Nov 6. Hum Genet. 2024. PMID: 39503779 Free PMC article.
Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?
Fogaça-da-Mata M, Martínez-Barrios E, Jiménez-Montañés L, Cruzalegui J, Chipa-Ccasani F, Greco A, Cesar S, Díez-Escuté N, Cerralbo P, Zschaeck I, Clavero Adell M, Ayerza-Casas A, Palanca-Arias D, López M, Campuzano O, Brugada J, Sarquella-Brugada G. Fogaça-da-Mata M, et al. Among authors: zschaeck i. Genes (Basel). 2024 May 17;15(5):638. doi: 10.3390/genes15050638. Genes (Basel). 2024. PMID: 38790267 Free PMC article.
Sex differences in long QT syndrome.
Díez-Escuté N, Arbelo E, Martínez-Barrios E, Cerralbo P, Cesar S, Cruzalegui J, Chipa F, Fiol V, Zschaeck I, Hernández C, Campuzano O, Sarquella-Brugada G. Díez-Escuté N, et al. Among authors: zschaeck i. Front Cardiovasc Med. 2023 Apr 4;10:1164028. doi: 10.3389/fcvm.2023.1164028. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 37082456 Free PMC article. Review.
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.
Cesar S, Coll M, Fiol V, Fernandez-Falgueras A, Cruzalegui J, 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 J, Zschaeck I, Natera-de Benito D, Carrera-García L, Exposito-Escudero J, Ortez C, Nascimento A, Brugada R, Sarquella-Brugada G, Campuzano O. Cesar S, et al. Among authors: zschaeck i. Front Genet. 2023 Mar 24;14:1135438. doi: 10.3389/fgene.2023.1135438. eCollection 2023. Front Genet. 2023. PMID: 37035729 Free PMC article.
Characterization of cardiac involvement in children with LMNA-related muscular dystrophy.
Cesar S, Campuzano O, Cruzalegui J, Fiol V, Moll I, Martínez-Barrios E, Zschaeck I, Natera-de Benito D, Ortez C, Carrera L, Expósito J, Berrueco R, Bautista-Rodriguez C, Dabaj I, Gómez García-de-la-Banda M, Quijano-Roy S, Brugada J, Nascimento A, Sarquella-Brugada G. Cesar S, et al. Among authors: zschaeck i. Front Cell Dev Biol. 2023 Mar 10;11:1142937. doi: 10.3389/fcell.2023.1142937. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36968203 Free PMC article.