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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: thorne np. 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.
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. 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.
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.
Walsh M, Bell KM, Chong B, Creed E, Brett GR, Pope K, Thorne NP, Sadedin S, Georgeson P, Phelan DG, Day T, Taylor JA, Sexton A, Lockhart PJ, Kiers L, Fahey M, Macciocca I, Gaff CL, Oshlack A, Yiu EM, James PA, Stark Z, Ryan MM; Melbourne Genomics Health Alliance. Walsh M, et al. Among authors: thorne np. Ann Clin Transl Neurol. 2017 Apr 26;4(5):318-325. doi: 10.1002/acn3.409. eCollection 2017 May. Ann Clin Transl Neurol. 2017. PMID: 28491899 Free PMC article.
Cpipe: a shared variant detection pipeline designed for diagnostic settings.
Sadedin SP, Dashnow H, James PA, Bahlo M, Bauer DC, Lonie A, Lunke S, Macciocca I, Ross JP, Siemering KR, Stark Z, White SM; Melbourne Genomics Health Alliance; Taylor G, Gaff C, Oshlack A, Thorne NP. Sadedin SP, et al. Among authors: thorne np. Genome Med. 2015 Jul 10;7(1):68. doi: 10.1186/s13073-015-0191-x. eCollection 2015. Genome Med. 2015. PMID: 26217397 Free PMC article.
Use of copy number deletion polymorphisms to assess DNA chimerism.
Bruno DL, Ganesamoorthy D, Thorne NP, Ling L, Bahlo M, Forrest S, Veenendaal M, Katerelos M, Skene A, Ierino FL, Power DA, Slater HR. Bruno DL, et al. Among authors: thorne np. Clin Chem. 2014 Aug;60(8):1105-14. doi: 10.1373/clinchem.2013.216077. Epub 2014 Jun 4. Clin Chem. 2014. PMID: 24899692
25 results