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Molecular characterization of the calcium release channel deficiency syndrome.
JCI Insight. 2020 Aug 6;5(15):e135952. doi: 10.1172/jci.insight.135952.
JCI Insight. 2020.
PMID: 32663189
Free PMC article.
Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community.
Tester DJ, Bombei HM, Fitzgerald KK, Giudicessi JR, Pitel BA, Thorland EC, Russell BG, Hamrick SK, Kim CSJ, Haglund-Turnquist CM, Johnsrude CL, Atkins DL, Ochoa Nunez LA, Law I, Temple J, Ackerman MJ.
Tester DJ, et al. Among authors: haglund turnquist cm.
JAMA Cardiol. 2020 Mar 1;5(3):13-18. doi: 10.1001/jamacardio.2019.5400.
JAMA Cardiol. 2020.
PMID: 31913406
Free PMC article.
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Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant.
Tobert KE, Tester DJ, Zhou W, Haglund-Turnquist CM, Giudicessi JR, Ackerman MJ.
Tobert KE, et al. Among authors: haglund turnquist cm.
Heart Rhythm. 2022 Jun;19(6):998-1007. doi: 10.1016/j.hrthm.2022.02.004. Epub 2022 Feb 7.
Heart Rhythm. 2022.
PMID: 35144019
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Elucidation of ALG10B as a Novel Long-QT Syndrome-Susceptibility Gene.
Zhou W, Ye D, Tester DJ, Bains S, Giudicessi JR, Haglund-Turnquist CM, Orland KM, January CT, Eckhardt LL, Maginot KR, Ackerman MJ.
Zhou W, et al. Among authors: haglund turnquist cm.
Circ Genom Precis Med. 2023 Apr;16(2):e003726. doi: 10.1161/CIRCGEN.122.003726. Epub 2023 Feb 22.
Circ Genom Precis Med. 2023.
PMID: 37071726
Free PMC article.
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