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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. 2024 Sep 19:101271. doi: 10.1016/j.gim.2024.101271. Online ahead of print. Genet Med. 2024. 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.
"Uninsurable because of a genetic test": a qualitative study of consumer views about the use of genetic test results in Australian life insurance.
Muller C, Gallacher L, Keogh L, McInerney-Leo A, Boughtwood T, Gleeson P, Barlow-Stewart K, Delatycki MB, Winship I, Nowak KJ, Otlowski M, Lacaze P, Tiller J. Muller C, et al. Among authors: boughtwood t. Eur J Hum Genet. 2024 Jul;32(7):827-836. doi: 10.1038/s41431-024-01602-1. Epub 2024 Apr 19. Eur J Hum Genet. 2024. PMID: 38637700 Free PMC article.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Dias KR, Shrestha R, Schofield D, Evans CA, O'Heir E, Zhu Y, Zhang F, Standen K, Weisburd B, Stenton SL, Sanchis-Juan A, Brand H, Talkowski ME, Ma A, Ghedia S, Wilson M, Sandaradura SA, Smith J, Kamien B, Turner A, Bakshi M, Adès LC, Mowat D, Regan M, McGillivray G, Savarirayan R, White SM, Tan TY, Stark Z, Brown NJ, Pérez-Jurado LA, Krzesinski E, Hunter MF, Akesson L, Fennell AP, Yeung A, Boughtwood T, Ewans LJ, Kerkhof J, Lucas C, Carey L, French H, Rapadas M, Stevanovski I, Deveson IW, Cliffe C, Elakis G, Kirk EP, Dudding-Byth T, Fletcher J, Walsh R, Corbett MA, Kroes T, Gecz J, Meldrum C, Cliffe S, Wall M, Lunke S, North K, Amor DJ, Field M, Sadikovic B, Buckley MF, O'Donnell-Luria A, Roscioli T. Dias KR, et al. Among authors: boughtwood t. Genet Med. 2024 May;26(5):101076. doi: 10.1016/j.gim.2024.101076. Epub 2024 Jan 19. Genet Med. 2024. PMID: 38258669
42 results