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"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: mcinerney leo a. Eur J Hum Genet. 2024 Apr 19. doi: 10.1038/s41431-024-01602-1. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38637700
Parkinsonism among Gaucher disease carriers.
Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Goker-Alpan O, et al. J Med Genet. 2004 Dec;41(12):937-40. doi: 10.1136/jmg.2004.024455. J Med Genet. 2004. PMID: 15591280 Free PMC article.
Genetic testing in Parkinson's disease.
McInerney-Leo A, Hadley DW, Gwinn-Hardy K, Hardy J. McInerney-Leo A, et al. Mov Disord. 2005 Jan;20(1):1-10. doi: 10.1002/mds.20316. Mov Disord. 2005. PMID: 15503301 Review.
Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation.
Johnson J, Paisán-Ruíz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL, Foote KD, Mandel RJ, Crawley A, Reimsnider S, Fernandez HH, Okun MS, Gwinn-Hardy K, Singleton AB. Johnson J, et al. Neurodegener Dis. 2007;4(5):386-91. doi: 10.1159/000105160. Epub 2007 Jul 6. Neurodegener Dis. 2007. PMID: 17622782
Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism.
Hassan N, Gregson CL, Tang H, van der Kamp M, Leo P, McInerney-Leo AM, Zheng J, Brandi ML, Tang JCY, Fraser W, Stone MD, Grundberg E; Anglo-Australasian Genetics Consortium; Brown MA, Duncan EL, Tobias JH. Hassan N, et al. J Bone Miner Res. 2023 May;38(5):678-691. doi: 10.1002/jbmr.4795. Epub 2023 Mar 13. J Bone Miner Res. 2023. PMID: 36824040 Free PMC article.
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng HM, Capper CP, Burgos-Tirado N, Prasad R, Hughes CR, Maudhoo A, Crowne E, Cheetham TD, Brain CE, Suntharalingham JP, Striglioni N, Yuksel B, Gurbuz F, Gupta S, Lindsay R, Couch R, Spoudeas HA, Guran T, Johnson S, Fowler DJ, Conwell LS, McInerney-Leo AM, Drui D, Cariou B, Lopez-Siguero JP, Harris M, Duncan EL, Hindmarsh PC, Auchus RJ, Donaldson MD, Achermann JC, Metherell LA. Maharaj A, et al. J Endocr Soc. 2018 Oct 30;3(1):201-221. doi: 10.1210/js.2018-00130. eCollection 2019 Jan 1. J Endocr Soc. 2018. PMID: 30620006 Free PMC article.
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
McInerney-Leo AM, Marshall MS, Gardiner B, Coucke PJ, Van Laer L, Loeys BL, Summers KM, Symoens S, West JA, West MJ, Paul Wordsworth B, Zankl A, Leo PJ, Brown MA, Duncan EL. McInerney-Leo AM, et al. Bonekey Rep. 2013 Dec 4;2:456. doi: 10.1038/bonekey.2013.190. eCollection 2013. Bonekey Rep. 2013. PMID: 24501682 Free PMC article.
97 results