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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škorić-Milosavljević D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino DF, Acke… See abstract for full author list ➔ Walsh R, et al. Among authors: gimeno jr. Genet Med. 2021 Jan;23(1):47-58. doi: 10.1038/s41436-020-00946-5. Epub 2020 Sep 7. Genet Med. 2021. PMID: 32893267 Free PMC article.
A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.
García-Molina E, Lacunza J, Ruiz-Espejo F, Sabater M, García-Alberola A, Gimeno JR, Cañizares F, García A, Martínez P, Valdés M, Tovar I. García-Molina E, et al. Among authors: gimeno jr. Clin Genet. 2013 Jun;83(6):530-8. doi: 10.1111/cge.12017. Epub 2012 Oct 16. Clin Genet. 2013. PMID: 22984773
An R1632C variant in the SCN5A gene causing Brugada syndrome.
García-Molina E, Sabater-Molina M, Muñoz C, Ruiz-Espejo F, Gimeno JR. García-Molina E, et al. Among authors: gimeno jr. Mol Med Rep. 2016 Jun;13(6):4677-80. doi: 10.3892/mmr.2016.5100. Epub 2016 Apr 11. Mol Med Rep. 2016. PMID: 27082542
Genetics of hypertrophic cardiomyopathy: A review of current state.
Sabater-Molina M, Pérez-Sánchez I, Hernández Del Rincón JP, Gimeno JR. Sabater-Molina M, et al. Among authors: gimeno jr. Clin Genet. 2018 Jan;93(1):3-14. doi: 10.1111/cge.13027. Epub 2017 Aug 17. Clin Genet. 2018. PMID: 28369730 Review.
D242N, a KV7.1 LQTS mutation uncovers a key residue for IKs voltage dependence.
Moreno C, Oliveras A, Bartolucci C, Muñoz C, de la Cruz A, Peraza DA, Gimeno JR, Martín-Martínez M, Severi S, Felipe A, Lambiase PD, Gonzalez T, Valenzuela C. Moreno C, et al. Among authors: gimeno jr. J Mol Cell Cardiol. 2017 Sep;110:61-69. doi: 10.1016/j.yjmcc.2017.07.009. Epub 2017 Jul 22. J Mol Cell Cardiol. 2017. PMID: 28739325 Free article.
Heritability in genetic heart disease: the role of genetic background.
Jansweijer JA, van Spaendonck-Zwarts KY, Tanck MWT, van Tintelen JP, Christiaans I, van der Smagt J, Vermeer A, Bos JM, Moss AJ, Swan H, Priori SG, Rydberg A, Tfelt-Hansen J, Ackerman MJ, Olivotto I, Charron P, Gimeno JR, van den Berg M, Wilde AAM, Pinto YM. Jansweijer JA, et al. Among authors: gimeno jr. Open Heart. 2019 May 28;6(1):e000929. doi: 10.1136/openhrt-2018-000929. eCollection 2019. Open Heart. 2019. PMID: 31245010 Free PMC article.
Trabeculated Myocardium in Hypertrophic Cardiomyopathy: Clinical Consequences.
Casanova JD, Carrillo JG, Jiménez JM, Muñoz JC, Esparza CM, Alvárez MS, Escribá R, Milla EB, de la Pompa JL, Raya Á, Gimeno JR, Molina MS, García GB. Casanova JD, et al. Among authors: gimeno jr. J Clin Med. 2020 Sep 30;9(10):3171. doi: 10.3390/jcm9103171. J Clin Med. 2020. PMID: 33007916 Free PMC article.
114 results