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Page 1
Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.
Campuzano O, Fernandez-Falgueras A, Sarquella-Brugada G, Cesar S, Arbelo E, García-Álvarez A, Jordà P, Coll M, Fiol V, Iglesias A, Perez-Serra A, Mates J, Del Olmo B, Ferrer C, Alcalde M, Puigmulé M, Mademont-Soler I, Pico F, Lopez L, Tiron C, Brugada J, Brugada R. Campuzano O, et al. Among authors: fiol v. Front Genet. 2019 May 15;10:450. doi: 10.3389/fgene.2019.00450. eCollection 2019. Front Genet. 2019. PMID: 31156706 Free PMC article.
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.
Campuzano O, Sarquella-Brugada G, Fernandez-Falgueras A, Cesar S, Coll M, Mates J, Arbelo E, Perez-Serra A, Del Olmo B, Jordá P, Fiol V, Iglesias A, Puigmulé M, Lopez L, Pico F, Brugada J, Brugada R. Campuzano O, et al. Among authors: fiol v. Hum Mutat. 2019 Jun;40(6):749-764. doi: 10.1002/humu.23730. Epub 2019 Mar 29. Hum Mutat. 2019. PMID: 30821013
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Campuzano O, Fernandez-Falgueras A, Lemus X, Sarquella-Brugada G, Cesar S, Coll M, Mates J, Arbelo E, Jordà P, Perez-Serra A, Del Olmo B, Ferrer-Costa C, Iglesias A, Fiol V, Puigmulé M, Lopez L, Pico F, Brugada J, Brugada R. Campuzano O, et al. Among authors: fiol v. J Clin Med. 2019 Jul 16;8(7):1035. doi: 10.3390/jcm8071035. J Clin Med. 2019. PMID: 31315195 Free PMC article.
Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?
Mates J, Mademont-Soler I, Fernandez-Falgueras A, Sarquella-Brugada G, Cesar S, Arbelo E, García-Álvarez A, Jordà P, Toro R, Coll M, Fiol V, Iglesias A, Perez-Serra A, Olmo BD, Alcalde M, Puigmulé M, Pico F, Lopez L, Ferrer C, Tiron C, Grassi S, Oliva A, Brugada J, Brugada R, Campuzano O. Mates J, et al. Among authors: fiol v. Forensic Sci Int Genet. 2020 Jul;47:102281. doi: 10.1016/j.fsigen.2020.102281. Epub 2020 Mar 20. Forensic Sci Int Genet. 2020. PMID: 32248082 Review.
Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.
Vallverdú-Prats M, Alcalde M, Sarquella-Brugada G, Cesar S, Arbelo E, Fernandez-Falgueras A, Coll M, Pérez-Serra A, Puigmulé M, Iglesias A, Fiol V, Ferrer-Costa C, Olmo BD, Picó F, Lopez L, Jordà P, García-Álvarez A, Llano CT, Toro R, Grassi S, Oliva A, Brugada J, Brugada R, Campuzano O. Vallverdú-Prats M, et al. Among authors: fiol v. J Pers Med. 2021 Feb 26;11(3):162. doi: 10.3390/jpm11030162. J Pers Med. 2021. PMID: 33652588 Free PMC article.
Pediatric Malignant Arrhythmias Caused by Rare Homozygous Genetic Variants in TRDN: A Comprehensive Interpretation.
Sarquella-Brugada G, Fernandez-Falgueras A, Cesar S, Arbelo E, Jordà P, García-Álvarez A, Cruzalegui JC, Merchan EF, Fiol V, Brugada J, Brugada R, Campuzano O. Sarquella-Brugada G, et al. Among authors: fiol v. Front Pediatr. 2021 Feb 22;8:601708. doi: 10.3389/fped.2020.601708. eCollection 2020. Front Pediatr. 2021. PMID: 33692971 Free PMC article. Review.
Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death.
Sarquella-Brugada G, García-Algar O, Zambrano MD, Fernández-Falgueres A, Sailer S, Cesar S, Sebastiani G, Martí-Almor J, Aurensanz E, Cruzalegui JC, Merchan EF, Coll M, Pérez-Serra A, Del Olmo B, Fiol V, Iglesias A, Ferrer-Costa C, Puigmulé M, Lopez L, Pico F, Arbelo E, Jordà P, Brugada J, Brugada R, Campuzano O. Sarquella-Brugada G, et al. Among authors: fiol v. Front Pediatr. 2021 Jul 29;9:704580. doi: 10.3389/fped.2021.704580. eCollection 2021. Front Pediatr. 2021. PMID: 34395343 Free PMC article.
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
Sarquella-Brugada G, Fernandez-Falgueras A, Cesar S, Arbelo E, Coll M, Perez-Serra A, Puigmulé M, Iglesias A, Alcalde M, Vallverdú-Prats M, Fiol V, Ferrer-Costa C, Del Olmo B, Picó F, Lopez L, García-Alvarez A, Jordà P, Tiron de Llano C, Toro R, Grassi S, Oliva A, Brugada J, Brugada R, Campuzano O. Sarquella-Brugada G, et al. Among authors: fiol v. Hum Genet. 2022 Oct;141(10):1579-1589. doi: 10.1007/s00439-021-02370-4. Epub 2021 Sep 21. Hum Genet. 2022. PMID: 34546463 Free PMC article.
Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.
Martínez-Barrios E, Cesar S, Cruzalegui J, Hernandez C, Arbelo E, Fiol V, Brugada J, Brugada R, Campuzano O, Sarquella-Brugada G. Martínez-Barrios E, et al. Among authors: fiol v. Biomedicines. 2022 Jan 5;10(1):106. doi: 10.3390/biomedicines10010106. Biomedicines. 2022. PMID: 35052786 Free PMC article. Review.
33 results