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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 D… See abstract for full author list ➔ Walsh R, et al. Among authors: kanters jk. 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.
Mutations in the Kv1.5 channel gene KCNA5 in cardiac arrest patients.
Nielsen NH, Winkel BG, Kanters JK, Schmitt N, Hofman-Bang J, Jensen HS, Bentzen BH, Sigurd B, Larsen LA, Andersen PS, Haunsø S, Kjeldsen K, Grunnet M, Christiansen M, Olesen SP. Nielsen NH, et al. Among authors: kanters jk. Biochem Biophys Res Commun. 2007 Mar 16;354(3):776-82. doi: 10.1016/j.bbrc.2007.01.048. Epub 2007 Jan 18. Biochem Biophys Res Commun. 2007. PMID: 17266934
Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.
Delpón E, Cordeiro JM, Núñez L, Thomsen PE, Guerchicoff A, Pollevick GD, Wu Y, Kanters JK, Larsen CT, Hofman-Bang J, Burashnikov E, Christiansen M, Antzelevitch C. Delpón E, et al. Among authors: kanters jk. Circ Arrhythm Electrophysiol. 2008 Aug;1(3):209-18. doi: 10.1161/CIRCEP.107.748103. Circ Arrhythm Electrophysiol. 2008. PMID: 19122847 Free PMC article.
[Short QT syndrome as an inherited condition].
Møller DV, Hedley PL, Olesen M, Kanters J, Svendsen JH, Christiansen M. Møller DV, et al. Ugeskr Laeger. 2011 Feb 7;173(6):420-4. Ugeskr Laeger. 2011. PMID: 21299935 Review. Danish.
Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome.
Barsheshet A, Goldenberg I, O-Uchi J, Moss AJ, Jons C, Shimizu W, Wilde AA, McNitt S, Peterson DR, Zareba W, Robinson JL, Ackerman MJ, Cypress M, Gray DA, Hofman N, Kanters JK, Kaufman ES, Platonov PG, Qi M, Towbin JA, Vincent GM, Lopes CM. Barsheshet A, et al. Among authors: kanters jk. Circulation. 2012 Apr 24;125(16):1988-96. doi: 10.1161/CIRCULATIONAHA.111.048041. Epub 2012 Mar 28. Circulation. 2012. PMID: 22456477 Free PMC article.
The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.
Hedley PL, Kanters JK, Dembic M, Jespersen T, Skibsbye L, Aidt FH, Eschen O, Graff C, Behr ER, Schlamowitz S, Corfield V, McKenna WJ, Christiansen M. Hedley PL, et al. Among authors: kanters jk. Circ Cardiovasc Genet. 2013 Oct;6(5):452-61. doi: 10.1161/CIRCGENETICS.113.000137. Epub 2013 Sep 10. Circ Cardiovasc Genet. 2013. PMID: 24021552
195 results