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Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.
Wang CM, Whiting AH, Rath A, Anido R, Ardigò D, Baynam G, Dawkins H, Hamosh A, Le Cam Y, Malherbe H, Molster CM, Monaco L, Padilla CD, Pariser AR, Robinson PN, Rodwell C, Schaefer F, Weber S, Macchia F. Wang CM, et al. Among authors: dawkins h. Orphanet J Rare Dis. 2024 Sep 11;19(1):334. doi: 10.1186/s13023-024-03322-7. Orphanet J Rare Dis. 2024. PMID: 39261914 Free PMC article.
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: dawkins h. Nat Commun. 2022 Aug 24;13(1):4966. doi: 10.1038/s41467-022-32707-0. Nat Commun. 2022. PMID: 36002448 Free PMC article.
Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial.
Smit AK, Allen M, Beswick B, Butow P, Dawkins H, Dobbinson SJ, Dunlop KL, Espinoza D, Fenton G, Kanetsky PA, Keogh L, Kimlin MG, Kirk J, Law MH, Lo S, Low C, Mann GJ, Reyes-Marcelino G, Morton RL, Newson AJ, Savard J, Trevena L, Wordsworth S, Cust AE. Smit AK, et al. Among authors: dawkins h. Genet Med. 2021 Dec;23(12):2394-2403. doi: 10.1038/s41436-021-01292-w. Epub 2021 Aug 12. Genet Med. 2021. PMID: 34385669 Free PMC article. Clinical Trial.
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Lassmann T, Francis RW, Weeks A, Tang D, Jamieson SE, Broley S, Dawkins HJS, Dreyer L, Goldblatt J, Groza T, Kamien B, Kiraly-Borri C, McKenzie F, Murphy L, Pachter N, Pathak G, Poulton C, Samanek A, Skoss R, Slee J, Townshend S, Ward M, Baynam GS, Blackwell JM. Lassmann T, et al. Among authors: dawkins hjs. NPJ Genom Med. 2020 Dec 10;5(1):54. doi: 10.1038/s41525-020-00161-w. NPJ Genom Med. 2020. PMID: 33303739 Free PMC article.
158 results