Kapplinger JD - Search Results

1

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.

2

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.

3

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.

4

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.

5

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.

6

Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

Clemens DJ, Lentino AR, Kapplinger JD, Ye D, Zhou W, Tester DJ, Ackerman MJ. Clemens DJ, et al. Among authors: kapplinger jd. Heart Rhythm. 2018 Apr;15(4):555-561. doi: 10.1016/j.hrthm.2017.11.032. Epub 2017 Dec 2. Heart Rhythm. 2018. PMID: 29197658 Free PMC article.

7

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.

8

The Promise and Peril of Precision Medicine: Phenotyping Still Matters Most.

Ackerman JP, Bartos DC, Kapplinger JD, Tester DJ, Delisle BP, Ackerman MJ. Ackerman JP, et al. Among authors: kapplinger jd. Mayo Clin Proc. 2016 Oct 8:S0025-6196(16)30463-3. doi: 10.1016/j.mayocp.2016.08.008. Online ahead of print. Mayo Clin Proc. 2016. PMID: 27810088 Free PMC article. Review.

9

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.

10

Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation.

Kapplinger JD, Pundi KN, Larson NB, Callis TE, Tester DJ, Bikker H, Wilde AAM, Ackerman MJ. Kapplinger JD, et al. Circ Genom Precis Med. 2018 Feb;11(2):e001424. doi: 10.1161/CIRCGEN.116.001424. Circ Genom Precis Med. 2018. PMID: 29453246 Free PMC article.

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