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Accelerating access to human genomics for public health: perspectives from the Western Pacific region.
Expert Meeting on Accelerating Access to Human Genomics for Public Health Participants. Expert Meeting on Accelerating Access to Human Genomics for Public Health Participants. Lancet Reg Health West Pac. 2024 Dec 10;53:101265. doi: 10.1016/j.lanwpc.2024.101265. eCollection 2024 Dec. Lancet Reg Health West Pac. 2024. PMID: 39759797 Free PMC article. No abstract available.
"Equity" in genomic health policies: a review of policies in the international arena.
Basnayake Ralalage P, Mitchell T, Zammit C, Baynam G, Kowal E, Masey L, McLaughlin J, Boughtwood T, Jenkins M, Pratt G, Ferdinand A. Basnayake Ralalage P, et al. Among authors: boughtwood t. Front Public Health. 2024 Dec 20;12:1464701. doi: 10.3389/fpubh.2024.1464701. eCollection 2024. Front Public Health. 2024. PMID: 39758206 Free PMC article.
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R, Brown JS, Casauria S, Madelli EO, Mattiske T, Boughtwood T, Metke A, Davis A, Horton AE, Winlaw D, Das D, Soka M, Giannoulatou E, Rath EM, Haan E, Blue GM, Vohra J, Atherton JJ, van Spaendonck-Zwarts K, Cox K, Burnett L, Wallis M, Haas M, Quinn MCJ, Pachter N, Poplawski NK, Stark Z, Bagnall RD, Weintraub RG, Pantaleo SJ, Lunke S, De Fazio P, Thompson T, James P, Chang Y, Fatkin D, Macciocca I, Ingles J, Dunwoodie SL, Semsarian C, McGaughran J; Australian Genomics Cardiovascular Disorders Flagship. Austin R, et al. Among authors: boughtwood t. Genet Med Open. 2024 Mar 25;2:101842. doi: 10.1016/j.gimo.2024.101842. eCollection 2024. Genet Med Open. 2024. PMID: 39669597 Free PMC article.
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP, Delatycki MB, Archibald AD, Tutty E, Caruana J, Halliday JL, Lewis S, McClaren BJ, Newson AJ, Dive L, Best S, Long JC, Braithwaite J, Downes MJ, Scuffham PA, Massie J, Barlow-Stewart K, Kulkarni A, Ruscigno A, Kanga-Parabia A, Rodrigues B, Bennetts BH, Ebzery C, Hunt C, Cliffe CC, Lee C, Azmanov D, King EA, Madelli EO, Zhang F, Ho G, Danos I, Liebelt J, Fletcher J, Kennedy J, Beilby J, Emery JD, McGaughran J, Marum JE, Scarff K, Fisk K, Harrison K, Boggs K, Giameos L, Fitzgerald L, Thomas L, Burnett L, Freeman L, Harris M, Berbic M, Davis MR, Cifuentes Ochoa M, Wallis M, Wall M, Chow MTM, Ferrie MM, Pachter N, Quayum N, Lang N, Kasi Pandy P, Casella R, Allcock RJN, Ong R, Edwards S, Sundercombe S, Jelenich S, Righetti S, Lunke S, Kaur S, Stock-Myer S, Eggers S, Walker SP, Theodorou T, Catchpool T, Clinch T, Roscioli T, Hardy T, Zhu Y, Fehlberg Z, Boughtwood TF, Laing NG; Mackenzie’s Mission Investigators; Mackenzie's Mission Investigators. Kirk EP, et al. Among authors: boughtwood tf. N Engl J Med. 2024 Nov 21;391(20):1877-1889. doi: 10.1056/NEJMoa2314768. N Engl J Med. 2024. PMID: 39565987
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.
Rius R, Compton AG, Baker NL, Balasubramaniam S, Best S, Bhattacharya K, Boggs K, Boughtwood T, Braithwaite J, Bratkovic D, Bray A, Brion MJ, Burke J, Casauria S, Chong B, Coman D, Cowie S, Cowley M, de Silva MG, Delatycki MB, Edwards S, Ellaway C, Fahey MC, Finlay K, Fletcher J, Frajman LE, Frazier AE, Gayevskiy V, Ghaoui R, Goel H, Goranitis I, Haas M, Hock DH, Howting D, Jackson MR, Kava MP, Kemp M, King-Smith S, Lake NJ, Lamont PJ, Lee J, Long JC, MacShane M, Madelli EO, Martin EM, Marum JE, Mattiske T, McGill J, Metke A, Murray S, Panetta J, Phillips LK, Quinn MCJ, Ryan MT, Schenscher S, Simons C, Smith N, Stroud DA, Tchan MC, Tom M, Wallis M, Ware TL, Welch AE, Wools C, Wu Y, Christodoulou J, Thorburn DR. Rius R, et al. Among authors: boughtwood t. Genet Med. 2025 Jan;27(1):101271. doi: 10.1016/j.gim.2024.101271. Epub 2024 Sep 19. Genet Med. 2025. PMID: 39305161
The WHO genomics program of work for equitable implementation of human genomics for global health.
Ambrosino E, Abou Tayoun AN, Abramowicz M, Zilfalil BA, Boughtwood T, Hamdi Y, Hubbard T, Kato K, Lopes-Cendes I, Majumder PP, Mascalzoni D, Ndiaye R, Ramsay M, Repetto GM, Shotelersuk V, Taylor S, Reeder JC, Ross AL. Ambrosino E, et al. Among authors: boughtwood t. Nat Med. 2024 Oct;30(10):2711-2713. doi: 10.1038/s41591-024-03225-x. Nat Med. 2024. PMID: 39227441 No abstract available.
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023.
Mallawaarachchi A, Biros E, Harris T, Bennetts B, Boughtwood T, Elliott J, Fowles L, Gardos R, Garza D, Goranitis I, Haas M, Huntley V, Jefferis J, Kassahn K, Leaver A, Lundie B, Lunke S, O'Connor C, Pratt G, Quinlan C, Shearman D, Soraru J, Sundaram M, Tchan M, Valente G, White J, Wilkins E, Alexander SI, Amir N, Best S, Gul H, Jayasinghe K, McCarthy H, Patel C, Stark Z, Mallett AJ. Mallawaarachchi A, et al. Among authors: boughtwood t. Hum Genomics. 2024 Aug 17;18(1):88. doi: 10.1186/s40246-024-00656-y. Hum Genomics. 2024. PMID: 39154021 Free PMC article.
44 results