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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: murray s. 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.
Health-related out-of-pocket expenses for children living with rare diseases - tuberous sclerosis and mitochondrial disorders: A prospective pilot study in Australian families.
Deverell M, Phu A, Elliott EJ, Teutsch SM, Eslick GD, Stuart C, Murray S, Davis R, Dalkeith T, Christodoulou J, Zurynski YA. Deverell M, et al. Among authors: murray s. J Paediatr Child Health. 2022 Apr;58(4):611-617. doi: 10.1111/jpc.15784. Epub 2021 Oct 27. J Paediatr Child Health. 2022. PMID: 34704652
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
Sue CM, Balasubramaniam S, Bratkovic D, Bonifant C, Christodoulou J, Coman D, Crawley K, Edema-Hildebrand F, Ellaway C, Ghaoui R, Kava M, Kearns LS, Lee J, Liang C, Mackey DA, Murray S, Needham M, Rius R, Russell J, Smith NJC, Thyagarajan D, Wools C. Sue CM, et al. Among authors: murray s. Intern Med J. 2022 Jan;52(1):110-120. doi: 10.1111/imj.15505. Epub 2021 Nov 19. Intern Med J. 2022. PMID: 34505344 Free PMC article.
Lethal phenotypes in Mendelian disorders.
Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, Robinson PN, Smedley D. Cacheiro P, et al. Among authors: murray sa. Genet Med. 2024 Apr 13:101141. doi: 10.1016/j.gim.2024.101141. Online ahead of print. Genet Med. 2024. PMID: 38629401
3,237 results