Kapplinger JD - Search Results

1

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Kapplinger JD, Giudicessi JR, Ye D, Tester DJ, Callis TE, Valdivia CR, Makielski JC, Wilde AA, Ackerman MJ. Kapplinger JD, et al. Circ Cardiovasc Genet. 2015 Aug;8(4):582-95. doi: 10.1161/CIRCGENETICS.114.000831. Epub 2015 Apr 22. Circ Cardiovasc Genet. 2015. PMID: 25904541 Free PMC article.

2

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ. Kapplinger JD, et al. Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23. Heart Rhythm. 2009. PMID: 19716085 Free PMC article.

3

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, Zumhagen S, Vatta M, Towbin JA, Shimizu W, Schulze-Bahr E, Antzelevitch C, Salisbury BA, Guicheney P, Wilde AA, Brugada R, Schott JJ, Ackerman MJ. Kapplinger JD, et al. Heart Rhythm. 2010 Jan;7(1):33-46. doi: 10.1016/j.hrthm.2009.09.069. Epub 2009 Oct 8. Heart Rhythm. 2010. PMID: 20129283 Free PMC article.

4

Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

Giudicessi JR, Kapplinger JD, Tester DJ, Alders M, Salisbury BA, Wilde AA, Ackerman MJ. Giudicessi JR, et al. Among authors: kapplinger jd. Circ Cardiovasc Genet. 2012 Oct 1;5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. Epub 2012 Sep 4. Circ Cardiovasc Genet. 2012. PMID: 22949429 Free PMC article.

5

Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

Kapplinger JD, Landstrom AP, Bos JM, Salisbury BA, Callis TE, Ackerman MJ. Kapplinger JD, et al. J Cardiovasc Transl Res. 2014 Apr;7(3):347-61. doi: 10.1007/s12265-014-9542-z. Epub 2014 Feb 8. J Cardiovasc Transl Res. 2014. PMID: 24510615 Free PMC article.

6

Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.

Kapplinger JD, Tseng AS, Salisbury BA, Tester DJ, Callis TE, Alders M, Wilde AA, Ackerman MJ. Kapplinger JD, et al. J Cardiovasc Transl Res. 2015 Apr;8(3):187-97. doi: 10.1007/s12265-015-9622-8. Epub 2015 Apr 9. J Cardiovasc Transl Res. 2015. PMID: 25854863 Free PMC article.

7

Founder Mutation Genotyping and Sudden Cardiac Arrest: The Promise of Precision Medicine Fulfilled or the Next Step Into Precise Uncertainty.

Kapplinger JD, Ackerman MJ. Kapplinger JD, et al. Circ Cardiovasc Genet. 2016 Apr;9(2):107-9. doi: 10.1161/CIRCGENETICS.116.001387. Circ Cardiovasc Genet. 2016. PMID: 27094198 No abstract available.

8

KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.

Kapplinger JD, Erickson A, Asuri S, Tester DJ, McIntosh S, Kerr CR, Morrison J, Tang A, Sanatani S, Arbour L, Ackerman MJ. Kapplinger JD, et al. J Med Genet. 2017 Jun;54(6):390-398. doi: 10.1136/jmedgenet-2016-104153. Epub 2017 Mar 6. J Med Genet. 2017. PMID: 28264985 Free PMC article.

9

Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.

Yamagata K, Horie M, Aiba T, Ogawa S, Aizawa Y, Ohe T, Yamagishi M, Makita N, Sakurada H, Tanaka T, Shimizu A, Hagiwara N, Kishi R, Nakano Y, Takagi M, Makiyama T, Ohno S, Fukuda K, Watanabe H, Morita H, Hayashi K, Kusano K, Kamakura S, Yasuda S, Ogawa H, Miyamoto Y, Kapplinger JD, Ackerman MJ, Shimizu W. Yamagata K, et al. Among authors: kapplinger jd. Circulation. 2017 Jun 6;135(23):2255-2270. doi: 10.1161/CIRCULATIONAHA.117.027983. Epub 2017 Mar 24. Circulation. 2017. PMID: 28341781

10

Lidocaine attenuation testing: An in vivo investigation of putative LQT3-associated variants in the SCN5A-encoded sodium channel.

Anderson HN, Bos JM, Kapplinger JD, Meskill JM, Ye D, Ackerman MJ. Anderson HN, et al. Among authors: kapplinger jd. Heart Rhythm. 2017 Aug;14(8):1173-1179. doi: 10.1016/j.hrthm.2017.04.020. Epub 2017 Apr 13. Heart Rhythm. 2017. PMID: 28412158 Free PMC article.

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