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Next-generation sequencing of AV nodal reentrant tachycardia patients identifies broad spectrum of variants in ion channel genes.
Andreasen L, Ahlberg G, Tang C, Andreasen C, Hartmann JP, Tfelt-Hansen J, Behr ER, Pehrson S, Haunsø S, LuCamp, Weeke PE, Jespersen T, Olesen MS, Svendsen JH. Andreasen L, et al. Among authors: weeke pe. Eur J Hum Genet. 2018 May;26(5):660-668. doi: 10.1038/s41431-017-0092-0. Epub 2018 Feb 2. Eur J Hum Genet. 2018. PMID: 29396561 Free PMC article.
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kääb S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bézieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R. Bezzina CR, et al. Nat Genet. 2013 Sep;45(9):1044-9. doi: 10.1038/ng.2712. Epub 2013 Jul 21. Nat Genet. 2013. PMID: 23872634 Free PMC article.
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.
Behr ER, Savio-Galimberti E, Barc J, Holst AG, Petropoulou E, Prins BP, Jabbari J, Torchio M, Berthet M, Mizusawa Y, Yang T, Nannenberg EA, Dagradi F, Weeke P, Bastiaenan R, Ackerman MJ, Haunso S, Leenhardt A, Kääb S, Probst V, Redon R, Sharma S, Wilde A, Tfelt-Hansen J, Schwartz P, Roden DM, Bezzina CR, Olesen M, Darbar D, Guicheney P, Crotti L; UK10K Consortium; Jamshidi Y. Behr ER, et al. Cardiovasc Res. 2015 Jun 1;106(3):520-9. doi: 10.1093/cvr/cvv042. Epub 2015 Feb 17. Cardiovasc Res. 2015. PMID: 25691538 Free PMC article.
Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval.
Ghouse J, Have CT, Weeke P, Bille Nielsen J, Ahlberg G, Balslev-Harder M, Appel EV, Skaaby T, Olesen SP, Grarup N, Linneberg A, Pedersen O, Haunsø S, Hastrup Svendsen J, Hansen T, Kanters JK, Salling Olesen M. Ghouse J, et al. Eur Heart J. 2015 Oct 1;36(37):2523-9. doi: 10.1093/eurheartj/ehv297. Epub 2015 Jul 9. Eur Heart J. 2015. PMID: 26159999
Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases.
Hertz CL, Christiansen SL, Larsen MK, Dahl M, Ferrero-Miliani L, Weeke PE, Pedersen O, Hansen T, Grarup N, Ottesen GL, Frank-Hansen R, Banner J, Morling N. Hertz CL, et al. Among authors: weeke pe. Eur J Hum Genet. 2016 Jun;24(6):817-22. doi: 10.1038/ejhg.2015.198. Epub 2015 Sep 9. Eur J Hum Genet. 2016. PMID: 26350513 Free PMC article.
134 results