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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: dunwoodie 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.
Using novel data linkage of congenital heart disease biobank data with administrative health data to identify cardiovascular outcomes to inform genomic analysis.
Lain SJ, Blue GM, O'Malley BR, Winlaw DS, Sholler G, Dunwoodie SL, Nassar N; Congenital Heart Disease Synergy Study group. Lain SJ, et al. Among authors: dunwoodie sl. Int J Popul Data Sci. 2023 Nov 14;8(1):2150. doi: 10.23889/ijpds.v8i1.2150. eCollection 2023. Int J Popul Data Sci. 2023. PMID: 38414539 Free PMC article.
Polygenic Risk in Families With Spontaneous Coronary Artery Dissection.
Tarr I, Hesselson S, Troup M, Young P, Thompson JL, McGrath-Cadell L, Fatkin D, Dunwoodie SL, Muller DWM, Iismaa SE, Kovacic JC, Graham RM, Giannoulatou E. Tarr I, et al. Among authors: dunwoodie sl. JAMA Cardiol. 2024 Mar 1;9(3):254-261. doi: 10.1001/jamacardio.2023.5194. JAMA Cardiol. 2024. PMID: 38265806
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Szot JO, Cuny H, Martin EM, Sheng DZ, Iyer K, Portelli S, Nguyen V, Gereis JM, Alankarage D, Chitayat D, Chong K, Wentzensen IM, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais LS, Tan TY, Pitt J, Wise CA, Wright H, Andrews ID, Pruniski B, Grebe TA, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown NJ, Hunter MF, Heath O, Lakhani SA, McDermott JH, Ascher DB, Chapman G, Bozon K, Dunwoodie SL. Szot JO, et al. Among authors: dunwoodie sl. J Clin Invest. 2024 Feb 15;134(4):e174824. doi: 10.1172/JCI174824. J Clin Invest. 2024. PMID: 38357931 Free PMC article.
Spondylocostal Dysostosis, Autosomal Recessive.
Turnpenny PD, Sloman M, Dunwoodie S. Turnpenny PD, et al. Among authors: dunwoodie s. 2009 Aug 25 [updated 2023 Aug 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Aug 25 [updated 2023 Aug 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301771 Free Books & Documents. Review.
146 results