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The landscape of genomic structural variation in Indigenous Australians.
Reis ALM, Rapadas M, Hammond JM, Gamaarachchi H, Stevanovski I, Ayuputeri Kumaheri M, Chintalaphani SR, Dissanayake DSB, Siggs OM, Hewitt AW, Llamas B, Brown A, Baynam G, Mann GJ, McMorran BJ, Easteal S, Hermes A, Jenkins MR; National Centre for Indigenous Genomics; Patel HR, Deveson IW. Reis ALM, et al. Among authors: patel hr. Nature. 2023 Dec;624(7992):602-610. doi: 10.1038/s41586-023-06842-7. Epub 2023 Dec 13. Nature. 2023. PMID: 38093003 Free PMC article.
Indigenous Australian genomes show deep structure and rich novel variation.
Silcocks M, Farlow A, Hermes A, Tsambos G, Patel HR, Huebner S, Baynam G, Jenkins MR, Vukcevic D, Easteal S, Leslie S; National Centre for Indigenous Genomics. Silcocks M, et al. Among authors: patel hr. Nature. 2023 Dec;624(7992):593-601. doi: 10.1038/s41586-023-06831-w. Epub 2023 Dec 13. Nature. 2023. PMID: 38093005 Free PMC article.
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.
Easteal S, Arkell RM, Balboa RF, Bellingham SA, Brown AD, Calma T, Cook MC, Davis M, Dawkins HJS, Dinger ME, Dobbie MS, Farlow A, Gwynne KG, Hermes A, Hoy WE, Jenkins MR, Jiang SH, Kaplan W, Leslie S, Llamas B, Mann GJ, McMorran BJ, McWhirter RE, Meldrum CJ, Nagaraj SH, Newman SJ, Nunn JS, Ormond-Parker L, Orr NJ, Paliwal D, Patel HR, Pearson G, Pratt GR, Rambaldini B, Russell LW, Savarirayan R, Silcocks M, Skinner JC, Souilmi Y, Vinuesa CG; National Centre for Indigenous Genomics; Baynam G. Easteal S, et al. Among authors: patel hr. Am J Hum Genet. 2020 Aug 6;107(2):175-182. doi: 10.1016/j.ajhg.2020.06.005. Am J Hum Genet. 2020. PMID: 32763188 Free PMC article.
Pharmacogenomic analysis of a genetically distinct Indigenous population.
Jaya Shankar A, Jadhao S, Hoy W, Foote SJ, Patel HR, Scaria V, McMorran BJ, Nagaraj SH. Jaya Shankar A, et al. Among authors: patel hr. Pharmacogenomics J. 2022 Mar;22(2):100-108. doi: 10.1038/s41397-021-00262-4. Epub 2021 Nov 25. Pharmacogenomics J. 2022. PMID: 34824386
Sex-specific splicing of Z- and W-borne nr5a1 alleles suggests sex determination is controlled by chromosome conformation.
Zhang X, Wagner S, Holleley CE, Deakin JE, Matsubara K, Deveson IW, O'Meally D, Patel HR, Ezaz T, Li Z, Wang C, Edwards M, Graves JAM, Georges A. Zhang X, et al. Among authors: patel hr. Proc Natl Acad Sci U S A. 2022 Jan 25;119(4):e2116475119. doi: 10.1073/pnas.2116475119. Proc Natl Acad Sci U S A. 2022. PMID: 35074916 Free PMC article.
A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease.
Vélez JI, Rivera D, Mastronardi CA, Patel HR, Tobón C, Villegas A, Cai Y, Easteal S, Lopera F, Arcos-Burgos M. Vélez JI, et al. Among authors: patel hr. Neural Plast. 2016;2016:9760314. doi: 10.1155/2016/9760314. Epub 2016 Jan 5. Neural Plast. 2016. PMID: 26949549 Free PMC article.
A globally diverse reference alignment and panel for imputation of mitochondrial DNA variants.
McInerney TW, Fulton-Howard B, Patterson C, Paliwal D, Jermiin LS, Patel HR, Pa J, Swerdlow RH, Goate A, Easteal S, Andrews SJ; for the Alzheimer’s Disease Neuroimaging Initiative. McInerney TW, et al. Among authors: patel hr. BMC Bioinformatics. 2021 Sep 1;22(1):417. doi: 10.1186/s12859-021-04337-8. BMC Bioinformatics. 2021. PMID: 34470617 Free PMC article.
297 results