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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: nowak kj. 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
Combined population genomic screening for three high-risk conditions in Australia: a modelling study.
Lacaze P, Marquina C, Tiller J, Brotchie A, Kang YJ, Merritt MA, Green RC, Watts GF, Nowak KJ, Manchanda R, Canfell K, James P, Winship I, McNeil JJ, Ademi Z. Lacaze P, et al. Among authors: nowak kj. EClinicalMedicine. 2023 Nov 8;66:102297. doi: 10.1016/j.eclinm.2023.102297. eCollection 2023 Dec. EClinicalMedicine. 2023. PMID: 38192593 Free PMC article.
Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene.
Suleski IS, Smith R, Vo C, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Houweling PJ, Nowak KJ, Laing NG, Taylor RL, Clayton JS. Suleski IS, et al. Among authors: nowak kj. Stem Cell Res. 2022 Aug;63:102830. doi: 10.1016/j.scr.2022.102830. Epub 2022 Jun 6. Stem Cell Res. 2022. PMID: 35728440 Free article.
Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene.
Clayton JS, Suleski I, Vo C, Smith R, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Houweling PJ, Nowak KJ, Ravenscroft G, Laing NG, Taylor RL. Clayton JS, et al. Among authors: nowak kj. Stem Cell Res. 2022 Aug;63:102829. doi: 10.1016/j.scr.2022.102829. Epub 2022 Jun 6. Stem Cell Res. 2022. PMID: 35728439 Free article.
Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene.
Clayton JS, Scriba CK, Romero NB, Malfatti E, Saker S, Larmonier T, Nowak KJ, Ravenscroft G, Laing NG, Taylor RL. Clayton JS, et al. Among authors: nowak kj. Stem Cell Res. 2021 Aug;55:102482. doi: 10.1016/j.scr.2021.102482. Epub 2021 Jul 29. Stem Cell Res. 2021. PMID: 34388489 Free article.
Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective.
Watts GF, Sullivan DR, Hare DL, Kostner KM, Horton AE, Bell DA, Brett T, Trent RJ, Poplawski NK, Martin AC, Srinivasan S, Justo RN, Chow CK, Pang J; FH Australasia Network Consensus Working Group. Watts GF, et al. Am J Prev Cardiol. 2021 Feb 4;6:100151. doi: 10.1016/j.ajpc.2021.100151. eCollection 2021 Jun. Am J Prev Cardiol. 2021. PMID: 34327493 Free PMC article.
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