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Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Stark Z, Boughtwood T, Haas M, Braithwaite J, Gaff CL, Goranitis I, Spurdle AB, Hansen DP, Hofmann O, Laing N, Metcalfe S, Newson AJ, Scott HS, Thorne N, Ward RL, Dinger ME, Best S, Long JC, Grimmond SM, Pearson J, Waddell N, Barnett CP, Cook M, Field M, Fielding D, Fox SB, Gecz J, Jaffe A, Leventer RJ, Lockhart PJ, Lunke S, Mallett AJ, McGaughran J, Mileshkin L, Nones K, Roscioli T, Scheffer IE, Semsarian C, Simons C, Thomas DM, Thorburn DR, Tothill R, White D, Dunwoodie S, Simpson PT, Phillips P, Brion MJ, Finlay K, Quinn MC, Mattiske T, Tudini E, Boggs K, Murray S, Wells K, Cannings J, Sinclair AH, Christodoulou J, North KN. Stark Z, et al. Among authors: semsarian c. Am J Hum Genet. 2023 Mar 2;110(3):419-426. doi: 10.1016/j.ajhg.2023.01.018. Am J Hum Genet. 2023. PMID: 36868206 Free PMC article. Review.
Establishment of an Australian National Genetic Heart Disease Registry.
Ingles J, McGaughran J, Vohra J, Weintraub RG, Davis A, Atherton J, Semsarian C. Ingles J, et al. Among authors: semsarian c. Heart Lung Circ. 2008 Dec;17(6):463-7. doi: 10.1016/j.hlc.2008.05.603. Epub 2008 Aug 21. Heart Lung Circ. 2008. PMID: 18722159
Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy.
Ingles J, Sarina T, Yeates L, Hunt L, Macciocca I, McCormack L, Winship I, McGaughran J, Atherton J, Semsarian C. Ingles J, et al. Among authors: semsarian c. Genet Med. 2013 Dec;15(12):972-7. doi: 10.1038/gim.2013.44. Epub 2013 Apr 18. Genet Med. 2013. PMID: 23598715 Free article.
Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases.
Bagnall RD, Crompton DE, Cutmore C, Regan BM, Berkovic SF, Scheffer IE, Semsarian C. Bagnall RD, et al. Among authors: semsarian c. Neurology. 2014 Sep 9;83(11):1018-21. doi: 10.1212/WNL.0000000000000781. Epub 2014 Aug 1. Neurology. 2014. PMID: 25085640
Rarity and phenotypic heterogeneity provide challenges in the diagnosis of Andersen-Tawil syndrome: Two cases presenting with ECGs mimicking catecholaminergic polymorphic ventricular tachycardia (CPVT).
Tully I, Atherton J, Hunt L, Ingles J, Semsarian C, McGaughran J. Tully I, et al. Among authors: semsarian c. Int J Cardiol. 2015 Dec 15;201:473-5. doi: 10.1016/j.ijcard.2015.07.069. Epub 2015 Aug 10. Int J Cardiol. 2015. PMID: 26322597 No abstract available.
418 results