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Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Pr… See abstract for full author list ➔ Lahrouchi N, et al. Among authors: skinner jr. Circulation. 2020 Jul 28;142(4):324-338. doi: 10.1161/CIRCULATIONAHA.120.045956. Epub 2020 May 20. Circulation. 2020. PMID: 32429735 Free PMC article.
Long QT and Brugada syndrome gene mutations in New Zealand.
Chung SK, MacCormick JM, McCulley CH, Crawford J, Eddy CA, Mitchell EA, Shelling AN, French JK, Skinner JR, Rees MI. Chung SK, et al. Among authors: skinner jr. Heart Rhythm. 2007 Oct;4(10):1306-14. doi: 10.1016/j.hrthm.2007.06.022. Epub 2007 Jul 14. Heart Rhythm. 2007. PMID: 17905336
Coinheritance of long QT syndrome and Kearns-Sayre syndrome.
Skinner JR, Yang T, Purvis D, Chung SK, Roden DM, Rees MI. Skinner JR, et al. Heart Rhythm. 2007 Dec;4(12):1568-72. doi: 10.1016/j.hrthm.2007.08.013. Epub 2007 Aug 15. Heart Rhythm. 2007. PMID: 17980675 No abstract available.
Misdiagnosis of long QT syndrome as epilepsy at first presentation.
MacCormick JM, McAlister H, Crawford J, French JK, Crozier I, Shelling AN, Eddy CA, Rees MI, Skinner JR. MacCormick JM, et al. Among authors: skinner jr. Ann Emerg Med. 2009 Jul;54(1):26-32. doi: 10.1016/j.annemergmed.2009.01.031. Epub 2009 Mar 12. Ann Emerg Med. 2009. PMID: 19282063
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
Yang T, Chung SK, Zhang W, Mullins JG, McCulley CH, Crawford J, MacCormick J, Eddy CA, Shelling AN, French JK, Yang P, Skinner JR, Roden DM, Rees MI. Yang T, et al. Among authors: skinner jr. Circ Arrhythm Electrophysiol. 2009 Aug;2(4):417-26. doi: 10.1161/CIRCEP.109.850149. Epub 2009 May 22. Circ Arrhythm Electrophysiol. 2009. PMID: 19808498 Free PMC article.
Posthumous diagnosis of long QT syndrome from neonatal screening cards.
Gladding PA, Evans CA, Crawford J, Chung SK, Vaughan A, Webster D, Neas K, Love DR, Rees MI, Shelling AN, Skinner JR. Gladding PA, et al. Among authors: skinner jr. Heart Rhythm. 2010 Apr;7(4):481-6. doi: 10.1016/j.hrthm.2009.12.023. Epub 2010 Jan 4. Heart Rhythm. 2010. PMID: 20167303
Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds.
Skinner JR, Crawford J, Smith W, Aitken A, Heaven D, Evans CA, Hayes I, Neas KR, Stables S, Koelmeyer T, Denmark L, Vuletic J, Maxwell F, White K, Yang T, Roden DM, Leren TP, Shelling A, Love DR; Cardiac Inherited Disease Group New Zealand. Skinner JR, et al. Heart Rhythm. 2011 Mar;8(3):412-9. doi: 10.1016/j.hrthm.2010.11.016. Epub 2010 Nov 9. Heart Rhythm. 2011. PMID: 21070882
324 results