1 | CALM2, LQT15
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| Novel Association of a De Novo CALM2 Mutation With Long QT Syndrome and Hypertrophic Cardiomyopathy.
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| Zahavich L, Tarnopolsky M, Yao R, Mital S.
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| Circ Genom Precis Med 11(10):e002255. doi: 10.1161/CIRCGEN.118.002255. No abstract available.
2018
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2 | CALM2, LQT15
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| Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation.
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| Yamamoto Y, Makiyama T, Harita T, Sasaki K, Wuriyanghai Y, Hayano M, Nishiuchi S, Kohjitani H, Hirose S, Chen J, Yokoi F, Ishikawa T, Ohno S, Chonabayashi K, Motomura H, Yoshida Y, Horie M, Makita N, Kimura T.
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| Hum Mol Genet 26(9):1670-1677. doi: 10.1093/hmg/ddx073.
2017
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3 | CALM1, CALM2, CALM3, LQT14, LQT15, LQT16
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| A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome.
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| Limpitikul WB, Dick IE, Tester DJ, Boczek NJ, Limphong P, Yang W, Choi MH, Babich J, DiSilvestre D, Kanter RJ, Tomaselli GF, Ackerman MJ, Yue DT.
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| Circ Res 120(1):39-48. doi: 10.1161/CIRCRESAHA.116.309283. Epub 2016 Oct 20.
2017
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4 | CALM1, CALM2, CALM3, LQT14, LQT15, LQT16
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| Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy.
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| Chaix MA, Koopmann TT, Goyette P, Alikashani A, Latour F, Fatah M, Hamilton RM, Rioux JD.
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| HeartRhythm Case Rep 2(3):250-254. doi: 10.1016/j.hrcr.2016.02.002. eCollection 2016 May. No abstract available.
2016
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5 | CALM1, CALM2, CALM3, LQT14, LQT15, LQT16
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| Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.
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| Boczek NJ, Gomez-Hurtado N, Ye D, Calvert ML, Tester DJ, Kryshtal D, Hwang HS, Johnson CN, Chazin WJ, Loporcaro CG, Shah M, Papez AL, Lau YR, Kanter R, Knollmann BC, Ackerman MJ.
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| Circ Cardiovasc Genet 9(2):136-146. doi: 10.1161/CIRCGENETICS.115.001323. Epub 2016 Mar 11.
2016
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6 | CALM1, CALM2, LQT14, LQT15
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| Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.
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| Pipilas DC, Johnson CN, Webster G, Schlaepfer J, Fellmann F, Sekarski N, Wren LM, Ogorodnik KV, Chazin DM, Chazin WJ, Crotti L, Bhuiyan ZA, George AL Jr.
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| Heart Rhythm 13(10):2012-9. doi: 10.1016/j.hrthm.2016.06.038. Epub 2016 Jul 1.
2016
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7 | CALM2, LQT15
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| Novel calmodulin mutations associated with congenital arrhythmia susceptibility.
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| Makita N, Yagihara N, Crotti L, Johnson CN, Beckmann BM, Roh MS, Shigemizu D, Lichtner P, Ishikawa T, Aiba T, Homfray T, Behr ER, Klug D, Denjoy I, Mastantuono E, Theisen D, Tsunoda T, Satake W, Toda T, Nakagawa H, Tsuji Y, Tsuchiya T, Yamamoto H, Miyamoto Y, Endo N, Kimura A, Ozaki K, Motomura H, Suda K, Tanaka T, Schwartz PJ, Meitinger T, Kääb S, Guicheney P, Shimizu W, Bhuiyan ZA, Watanabe H, Chazin WJ, George AL Jr.
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| Circ Cardiovasc Genet 7(4):466-74. doi: 10.1161/CIRCGENETICS.113.000459. Epub 2014 Jun 10.
2014
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8 | CALM1, CALM2, LQT14, LQT15
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| Calmodulin mutations associated with recurrent cardiac arrest in infants.
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| Crotti L, Johnson CN, Graf E, De Ferrari GM, Cuneo BF, Ovadia M, Papagiannis J, Feldkamp MD, Rathi SG, Kunic JD, Pedrazzini M, Wieland T, Lichtner P, Beckmann BM, Clark T, Shaffer C, Benson DW, Kääb S, Meitinger T, Strom TM, Chazin WJ, Schwartz PJ, George AL Jr.
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| Circulation 127(9):1009-17. doi: 10.1161/CIRCULATIONAHA.112.001216. Epub 2013 Feb 6.
2013
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9 | CALM1, CALM2, LQT14, LQT15
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| Calmodulin mutations associated with recurrent cardiac arrest in infants.
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| Crotti L, Johnson CN, Graf E, De Ferrari GM, Cuneo BF, Ovadia M, Papagiannis J, Feldkamp MD, Rathi SG, Kunic JD, Pedrazzini M, Wieland T, Lichtner P, Beckmann BM, Clark T, Shaffer C, Benson DW, Kääb S, Meitinger T, Strom TM, Chazin WJ, Schwartz PJ, George AL Jr.
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| Circulation 127(9):1009-17. doi: 10.1161/CIRCULATIONAHA.112.001216. Epub 2013 Feb 6.
2013
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