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Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people.
Luke J, Dalach P, Tuer L, Savarirayan R, Ferdinand A, McGaughran J, Kowal E, Massey L, Garvey G, Dawkins H, Jenkins M, Paradies Y, Pearson G, Stutterd CA, Baynam G, Kelaher M. Luke J, et al. Among authors: mcgaughran j. Nat Commun. 2022 Aug 24;13(1):4966. doi: 10.1038/s41467-022-32707-0. Nat Commun. 2022. PMID: 36002448 Free PMC article.
"This is my boy's health! Talk straight to me!" perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics services.
Dalach P, Savarirayan R, Baynam G, McGaughran J, Kowal E, Massey L, Jenkins M, Paradies Y, Kelaher M. Dalach P, et al. Among authors: mcgaughran j. Int J Equity Health. 2021 Apr 17;20(1):103. doi: 10.1186/s12939-021-01443-0. Int J Equity Health. 2021. PMID: 33865398 Free PMC article.
Investigation of current models of care for genetic heart disease in Australia: A national clinical audit.
Austin R, Quinn MCJ, Afoakwah C, Metke-Jimenez A, Leroux H, Atherton J, Brown JS, Wornham LJ, Macciocca I, de Silva MG, Thompson T, Martin EM, Hilton D, Devery S, Wu KHC, Jackson MR, Correnti G, Overkov A, Elbracht-Leong S, Ingles J, Scuffham P, Semsarian C, McGaughran J. Austin R, et al. Among authors: mcgaughran j. Int J Cardiol. 2021 May 1;330:128-134. doi: 10.1016/j.ijcard.2021.02.010. Epub 2021 Feb 11. Int J Cardiol. 2021. PMID: 33581180 Free article.
CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.
Bartuzi P, Billadeau DD, Favier R, Rong S, Dekker D, Fedoseienko A, Fieten H, Wijers M, Levels JH, Huijkman N, Kloosterhuis N, van der Molen H, Brufau G, Groen AK, Elliott AM, Kuivenhoven JA, Plecko B, Grangl G, McGaughran J, Horton JD, Burstein E, Hofker MH, van de Sluis B. Bartuzi P, et al. Among authors: mcgaughran j. Nat Commun. 2016 Mar 11;7:10961. doi: 10.1038/ncomms10961. Nat Commun. 2016. PMID: 26965651 Free PMC article.
Establishment of an Australian National Genetic Heart Disease Registry.
Ingles J, McGaughran J, Vohra J, Weintraub RG, Davis A, Atherton J, Semsarian C. Ingles J, et al. Among authors: mcgaughran j. Heart Lung Circ. 2008 Dec;17(6):463-7. doi: 10.1016/j.hlc.2008.05.603. Epub 2008 Aug 21. Heart Lung Circ. 2008. PMID: 18722159
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").
Kirk EP, Ong R, Boggs K, Hardy T, Righetti S, Kamien B, Roscioli T, Amor DJ, Bakshi M, Chung CWT, Colley A, Jamieson RV, Liebelt J, Ma A, Pachter N, Rajagopalan S, Ravine A, Wilson M, Caruana J, Casella R, Davis M, Edwards S, Archibald A, McGaughran J, Newson AJ, Laing NG, Delatycki MB. Kirk EP, et al. Among authors: mcgaughran j. Eur J Hum Genet. 2021 Jan;29(1):79-87. doi: 10.1038/s41431-020-0685-x. Epub 2020 Jul 16. Eur J Hum Genet. 2021. PMID: 32678339 Free PMC article.
KBG syndrome: An Australian experience.
Murray N, Burgess B, Hay R, Colley A, Rajagopalan S, McGaughran J, Patel C, Enriquez A, Goodwin L, Stark Z, Tan T, Wilson M, Roscioli T, Tekin M, Goel H. Murray N, et al. Among authors: mcgaughran j. Am J Med Genet A. 2017 Jul;173(7):1866-1877. doi: 10.1002/ajmg.a.38121. Epub 2017 Apr 27. Am J Med Genet A. 2017. PMID: 28449295
123 results