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Page 1
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: hasdemir c. 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.
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.
Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F, Escande D, Wiesfeld AC, Pfeufer A, Kääb S, Wichmann HE, Hasdemir C, Aizawa Y, Wilde AA, Roden DM, Bezzina CR. Watanabe H, et al. Among authors: hasdemir c. J Clin Invest. 2008 Jun;118(6):2260-8. doi: 10.1172/JCI33891. J Clin Invest. 2008. PMID: 18464934 Free PMC article.
A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.
Makita N, Seki A, Sumitomo N, Chkourko H, Fukuhara S, Watanabe H, Shimizu W, Bezzina CR, Hasdemir C, Mugishima H, Makiyama T, Baruteau A, Baron E, Horie M, Hagiwara N, Wilde AA, Probst V, Le Marec H, Roden DM, Mochizuki N, Schott JJ, Delmar M. Makita N, et al. Among authors: hasdemir c. Circ Arrhythm Electrophysiol. 2012 Feb;5(1):163-72. doi: 10.1161/CIRCEP.111.967604. Epub 2012 Jan 13. Circ Arrhythm Electrophysiol. 2012. PMID: 22247482 Free PMC article.
Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.
Hu D, Barajas-Martínez H, Pfeiffer R, Dezi F, Pfeiffer J, Buch T, Betzenhauser MJ, Belardinelli L, Kahlig KM, Rajamani S, DeAntonio HJ, Myerburg RJ, Ito H, Deshmukh P, Marieb M, Nam GB, Bhatia A, Hasdemir C, Haïssaguerre M, Veltmann C, Schimpf R, Borggrefe M, Viskin S, Antzelevitch C. Hu D, et al. Among authors: hasdemir c. J Am Coll Cardiol. 2014 Jul 8;64(1):66-79. doi: 10.1016/j.jacc.2014.04.032. J Am Coll Cardiol. 2014. PMID: 24998131 Free PMC article.
J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge.
Antzelevitch C, Yan GX, Ackerman MJ, Borggrefe M, Corrado D, Guo J, Gussak I, Hasdemir C, Horie M, Huikuri H, Ma C, Morita H, Nam GB, Sacher F, Shimizu W, Viskin S, Wilde AA. Antzelevitch C, et al. Among authors: hasdemir c. Heart Rhythm. 2016 Oct;13(10):e295-324. doi: 10.1016/j.hrthm.2016.05.024. Epub 2016 Jul 13. Heart Rhythm. 2016. PMID: 27423412 Free PMC article. Review. No abstract available.
J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge.
Antzelevitch C, Yan GX, Ackerman MJ, Borggrefe M, Corrado D, Guo J, Gussak I, Hasdemir C, Horie M, Huikuri H, Ma C, Morita H, Nam GB, Sacher F, Shimizu W, Viskin S, Wilde AA. Antzelevitch C, et al. Among authors: hasdemir c. J Arrhythm. 2016 Oct;32(5):315-339. doi: 10.1016/j.joa.2016.07.002. Epub 2016 Aug 21. J Arrhythm. 2016. PMID: 27761155 Free PMC article. No abstract available.
Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene.
Krych M, Biernacka EK, Ponińska J, Kukla P, Filipecki A, Gajda R, Hasdemir C, Antzelevitch C, Kosiec A, Szperl M, Płoski R, Trusz-Gluza M, Mizia-Stec K, Hoffman P. Krych M, et al. Among authors: hasdemir c. J Cardiol. 2017 Nov;70(5):504-510. doi: 10.1016/j.jjcc.2017.01.009. Epub 2017 Mar 21. J Cardiol. 2017. PMID: 28336205 Free PMC article.
68 results