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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: cox k. 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.
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Tudini E, Andrews J, Lawrence DM, King-Smith SL, Baker N, Baxter L, Beilby J, Bennetts B, Beshay V, Black M, Boughtwood TF, Brion K, Cheong PL, Christie M, Christodoulou J, Chong B, Cox K, Davis MR, Dejong L, Dinger ME, Doig KD, Douglas E, Dubowsky A, Ellul M, Fellowes A, Fisk K, Fortuno C, Friend K, Gallagher RL, Gao S, Hackett E, Hadler J, Hipwell M, Ho G, Hollway G, Hooper AJ, Kassahn KS, Krishnaraj R, Lau C, Le H, San Leong H, Lundie B, Lunke S, Marty A, McPhillips M, Nguyen LT, Nones K, Palmer K, Pearson JV, Quinn MCJ, Rawlings LH, Sadedin S, Sanchez L, Schreiber AW, Sigalas E, Simsek A, Soubrier J, Stark Z, Thompson BA, U J, Vakulin CG, Wells AV, Wise CA, Woods R, Ziolkowski A, Brion MJ, Scott HS, Thorne NP, Spurdle AB; Shariant Consortium. Tudini E, et al. Among authors: cox k. Am J Hum Genet. 2022 Nov 3;109(11):1960-1973. doi: 10.1016/j.ajhg.2022.10.006. Am J Hum Genet. 2022. PMID: 36332611 Free PMC article. Review.
Leveraging Lean Methodology to Improve Compliance With Work-Hour Restrictions.
Reeves JJ, Goldhaber N, Hollandsworth H, Cox K, Dumitru AM, Zhao B, Longhurst CA, Berumen J, Berndtson AE, Jacobsen G, Clary B. Reeves JJ, et al. Among authors: cox k. JAMA Surg. 2024 Dec 18. doi: 10.1001/jamasurg.2024.5518. Online ahead of print. JAMA Surg. 2024. PMID: 39693087
Withdrawal notice to: Impact of Provision of Abdominal Aortic Calcification Results on Cardiovascular Risk Reducing Behaviours: A 12-Week RCT [Heart, Lung and Circulation, Volume 33, Supplement 4, August 2024, Page S357].
Radavelli Bagatini S, Bondonno C, Dalla Via J, Sim M, Gebre A, Blekkenhorst L, Connolly E, Bondonno N, Schousboe J, Woodman R, Zhu K, Mullin S, Szulc P, Jackson B, Dimmock J, Schlaich M, Cox K, Kiel D, Lim W, Stanley M, Devine A, Thompson P, Williams E, Wood L, Sim M, Daly R, Hodgson J, Lewis J. Radavelli Bagatini S, et al. Among authors: cox k. Heart Lung Circ. 2024 Nov;33(11):R1. doi: 10.1016/j.hlc.2024.10.005. Heart Lung Circ. 2024. PMID: 39521576 No abstract available.
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2024 Oct 24;27(2):101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
1,552 results