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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: pico f. Front Genet. 2019 May 15;10:450. doi: 10.3389/fgene.2019.00450. eCollection 2019. Front Genet. 2019. PMID: 31156706 Free PMC article.
Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.
Mates J, Mademont-Soler I, Del Olmo B, Ferrer-Costa C, Coll M, Pérez-Serra A, Picó F, Allegue C, Fernandez-Falgueras A, Álvarez P, Yotti R, Espinosa MA, Sarquella-Brugada G, Cesar S, Carro E, Brugada J, Arbelo E, Garcia-Pavia P, Borregan M, Tizzano E, López-Granados A, Mazuelos F, Díaz de Bustamante A, Darnaude MT, González-Hevia JI, Díaz-Flores F, Trujillo F, Iglesias A, Fernandez-Aviles F, Campuzano O, Brugada R. Mates J, et al. Among authors: pico f. Eur J Hum Genet. 2018 Jul;26(7):1014-1025. doi: 10.1038/s41431-018-0119-1. Epub 2018 Mar 6. Eur J Hum Genet. 2018. PMID: 29511324 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: pico f. 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: pico f. 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: pico f. 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.
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: pico f. 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: pico f. 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.
Genetic analysis, in silico prediction, and family segregation in long QT syndrome.
Riuró H, Campuzano O, Berne P, Arbelo E, Iglesias A, Pérez-Serra A, Coll-Vidal M, Partemi S, Mademont-Soler I, Picó F, Allegue C, Oliva A, Gerstenfeld E, Sarquella-Brugada G, Castro-Urda V, Fernández-Lozano I, Mont L, Brugada J, Scornik FS, Brugada R. Riuró H, et al. Among authors: pico f. Eur J Hum Genet. 2015 Jan;23(1):79-85. doi: 10.1038/ejhg.2014.54. Epub 2014 Mar 26. Eur J Hum Genet. 2015. PMID: 24667783 Free PMC article.
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.
Selga E, Campuzano O, Pinsach-Abuin ML, Pérez-Serra A, Mademont-Soler I, Riuró H, Picó F, Coll M, Iglesias A, Pagans S, Sarquella-Brugada G, Berne P, Benito B, Brugada J, Porres JM, López Zea M, Castro-Urda V, Fernández-Lozano I, Brugada R. Selga E, et al. Among authors: pico f. PLoS One. 2015 Jul 14;10(7):e0132888. doi: 10.1371/journal.pone.0132888. eCollection 2015. PLoS One. 2015. PMID: 26173111 Free PMC article.
Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death.
Campuzano O, Sanchez-Molero O, Mademont-Soler I, Riuró H, Allegue C, Coll M, Pérez-Serra A, Mates J, Picó F, Iglesias A, Brugada R. Campuzano O, et al. Among authors: pico f. Int J Mol Sci. 2015 Oct 27;16(10):25773-87. doi: 10.3390/ijms161025773. Int J Mol Sci. 2015. PMID: 26516846 Free PMC article.
274 results