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Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.
Gardner RJM, Crozier IG, Binfield AL, Love DR, Lehnert K, Gibson K, Lintott CJ, Snell RG, Jacobsen JC, Jones PP, Waddell-Smith KE, Kennedy MA, Skinner JR. Gardner RJM, et al. Among authors: skinner jr. Mol Genet Genomic Med. 2019 Jan;7(1):e00476. doi: 10.1002/mgg3.476. Epub 2018 Oct 21. Mol Genet Genomic Med. 2019. PMID: 30345660 Free PMC article.
Misdiagnosis of long QT syndrome as epilepsy at first presentation.
MacCormick JM, McAlister H, Crawford J, French JK, Crozier I, Shelling AN, Eddy CA, Rees MI, Skinner JR. MacCormick JM, et al. Among authors: skinner jr. Ann Emerg Med. 2009 Jul;54(1):26-32. doi: 10.1016/j.annemergmed.2009.01.031. Epub 2009 Mar 12. Ann Emerg Med. 2009. PMID: 19282063
Posthumous diagnosis of long QT syndrome from neonatal screening cards.
Gladding PA, Evans CA, Crawford J, Chung SK, Vaughan A, Webster D, Neas K, Love DR, Rees MI, Shelling AN, Skinner JR. Gladding PA, et al. Among authors: skinner jr. Heart Rhythm. 2010 Apr;7(4):481-6. doi: 10.1016/j.hrthm.2009.12.023. Epub 2010 Jan 4. Heart Rhythm. 2010. PMID: 20167303
Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds.
Skinner JR, Crawford J, Smith W, Aitken A, Heaven D, Evans CA, Hayes I, Neas KR, Stables S, Koelmeyer T, Denmark L, Vuletic J, Maxwell F, White K, Yang T, Roden DM, Leren TP, Shelling A, Love DR; Cardiac Inherited Disease Group New Zealand. Skinner JR, et al. Heart Rhythm. 2011 Mar;8(3):412-9. doi: 10.1016/j.hrthm.2010.11.016. Epub 2010 Nov 9. Heart Rhythm. 2011. PMID: 21070882
324 results