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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.
Microchromosomes are building blocks of bird, reptile, and mammal chromosomes.
Waters PD, Patel HR, Ruiz-Herrera A, Álvarez-González L, Lister NC, Simakov O, Ezaz T, Kaur P, Frere C, Grützner F, Georges A, Graves JAM. Waters PD, et al. Among authors: patel hr. Proc Natl Acad Sci U S A. 2021 Nov 9;118(45):e2112494118. doi: 10.1073/pnas.2112494118. Proc Natl Acad Sci U S A. 2021. PMID: 34725164 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.
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.
Mapping and significance of the mRNA methylome.
Sibbritt T, Patel HR, Preiss T. Sibbritt T, et al. Among authors: patel hr. Wiley Interdiscip Rev RNA. 2013 Jul-Aug;4(4):397-422. doi: 10.1002/wrna.1166. Epub 2013 May 16. Wiley Interdiscip Rev RNA. 2013. PMID: 23681756 Review.
298 results