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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: beilby j. 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.
Sequence variants in three loci influence monocyte counts and erythrocyte volume.
Ferreira MA, Hottenga JJ, Warrington NM, Medland SE, Willemsen G, Lawrence RW, Gordon S, de Geus EJ, Henders AK, Smit JH, Campbell MJ, Wallace L, Evans DM, Wright MJ, Nyholt DR, James AL, Beilby JP, Penninx BW, Palmer LJ, Frazer IH, Montgomery GW, Martin NG, Boomsma DI. Ferreira MA, et al. Among authors: beilby jp. Am J Hum Genet. 2009 Nov;85(5):745-9. doi: 10.1016/j.ajhg.2009.10.005. Epub 2009 Oct 22. Am J Hum Genet. 2009. PMID: 19853236 Free PMC article.
A locus on chromosome 1p36 is associated with thyrotropin and thyroid function as identified by genome-wide association study.
Panicker V, Wilson SG, Walsh JP, Richards JB, Brown SJ, Beilby JP, Bremner AP, Surdulescu GL, Qweitin E, Gillham-Nasenya I, Soranzo N, Lim EM, Fletcher SJ, Spector TD. Panicker V, et al. Among authors: beilby jp. Am J Hum Genet. 2010 Sep 10;87(3):430-5. doi: 10.1016/j.ajhg.2010.08.005. Am J Hum Genet. 2010. PMID: 20826269 Free PMC article.
Plasma lipoprotein subclass variation in middle-aged and older adults: Sex-stratified distributions and associations with health status and cardiometabolic risk factors.
Masuda R, Wist J, Lodge S, Kimhofer T, Hunter M, Hui J, Beilby JP, Burnett JR, Dwivedi G, Schlaich MP, Bong SH, Loo RL, Holmes E, Nicholson JK, Yeap BB. Masuda R, et al. Among authors: beilby jp. J Clin Lipidol. 2023 Sep-Oct;17(5):677-687. doi: 10.1016/j.jacl.2023.06.004. Epub 2023 Jul 1. J Clin Lipidol. 2023. PMID: 37442713 Free article.
531 results