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Page 1
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
Brett GR, Martyn M, Lynch F, de Silva MG, Ayres S, Gallacher L, Boggs K, Baxendale A, Schenscher S, King-Smith S, Fowles L, Springer A, Lunke S, Vasudevan A, Krzesinski E, Pinner J, Sandaradura SA, Barnett C, Patel C, Wilson M, Stark Z. Brett GR, et al. Among authors: fowles l. Genet Med. 2020 Dec;22(12):1976-1985. doi: 10.1038/s41436-020-0912-4. Epub 2020 Jul 28. Genet Med. 2020. PMID: 32719395 Free article.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
Australian Genomics Health Alliance Acute Care Flagship; Lunke S, Eggers S, Wilson M, Patel C, Barnett CP, Pinner J, Sandaradura SA, Buckley MF, Krzesinski EI, de Silva MG, Brett GR, Boggs K, Mowat D, Kirk EP, Adès LC, Akesson LS, Amor DJ, Ayres S, Baxendale A, Borrie S, Bray A, Brown NJ, Chan CY, Chong B, Cliffe C, Delatycki MB, Edwards M, Elakis G, Fahey MC, Fennell A, Fowles L, Gallacher L, Higgins M, Howell KB, Hunt L, Hunter MF, Jones KJ, King S, Kumble S, Lang S, Le Moing M, Ma A, Phelan D, Quinn MCJ, Richards A, Richmond CM, Riseley J, Rodgers J, Sachdev R, Sadedin S, Schlapbach LJ, Smith J, Springer A, Tan NB, Tan TY, Temple SL, Theda C, Vasudevan A, White SM, Yeung A, Zhu Y, Martyn M, Best S, Roscioli T, Christodoulou J, Stark Z. Australian Genomics Health Alliance Acute Care Flagship, et al. Among authors: fowles l. JAMA. 2020 Jun 23;323(24):2503-2511. doi: 10.1001/jama.2020.7671. JAMA. 2020. PMID: 32573669 Free PMC article.
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.
Hort Y, Sullivan P, Wedd L, Fowles L, Stevanovski I, Deveson I, Simons C, Mallett A, Patel C, Furlong T, Cowley MJ, Shine J, Mallawaarachchi A. Hort Y, et al. Among authors: fowles l. NPJ Genom Med. 2023 Jul 7;8(1):16. doi: 10.1038/s41525-023-00362-z. NPJ Genom Med. 2023. PMID: 37419908 Free PMC article.
Queensland Consumers' Awareness and Understanding of Clinical Genetics Services.
Wallingford CK, Cutler K, Istiko SN, Fowles LF, Lamb R, Bean J, Healy L, Hondow G, Pratt G, Vidgen ME, Waddell N, Evans E, Bunker D, McInerney-Leo AM. Wallingford CK, et al. Among authors: fowles lf. Front Genet. 2020 Oct 15;11:537743. doi: 10.3389/fgene.2020.537743. eCollection 2020. Front Genet. 2020. PMID: 33193608 Free PMC article.
Attitudes of Australian dermatologists on the use of genetic testing: A cross-sectional survey with a focus on melanoma.
Primiero CA, Baker AM, Wallingford CK, Maas EJ, Yanes T, Fowles L, Janda M, Young MA, Nisselle A, Terrill B, Lodge JM, Tiller JM, Lacaze P, Andersen H, McErlean G, Turbitt E, Soyer HP, McInerney-Leo AM. Primiero CA, et al. Among authors: fowles l. Front Genet. 2022 Oct 24;13:919134. doi: 10.3389/fgene.2022.919134. eCollection 2022. Front Genet. 2022. PMID: 36353112 Free PMC article.
Evaluation of a Genetics Education Program for Health Interpreters: A Pilot Study.
Vidgen ME, Fowles LF, Istiko SN, Evans E, Cutler K, Sullivan K, Bean J, Healy L, Hondow G, McInerney-Leo AM, Pratt G, Robins D, Best S, Finlay K, Ramarao-Milne P, Waddell N. Vidgen ME, et al. Among authors: fowles lf. Front Genet. 2022 Feb 3;12:771892. doi: 10.3389/fgene.2021.771892. eCollection 2021. Front Genet. 2022. PMID: 35186003 Free PMC article.
23 results