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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.
APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer's disease.
Vélez JI, Lopera F, Sepulveda-Falla D, Patel HR, Johar AS, Chuah A, Tobón C, Rivera D, Villegas A, Cai Y, Peng K, Arkell R, Castellanos FX, Andrews SJ, Silva Lara MF, Creagh PK, Easteal S, de Leon J, Wong ML, Licinio J, Mastronardi CA, Arcos-Burgos M. Vélez JI, et al. Among authors: patel hr. Mol Psychiatry. 2016 Jul;21(7):916-24. doi: 10.1038/mp.2015.177. Epub 2015 Dec 1. Mol Psychiatry. 2016. PMID: 26619808 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.
Mutations modifying sporadic Alzheimer's disease age of onset.
Vélez JI, Lopera F, Patel HR, Johar AS, Cai Y, Rivera D, Tobón C, Villegas A, Sepulveda-Falla D, Lehmann SG, Easteal S, Mastronardi CA, Arcos-Burgos M. Vélez JI, et al. Among authors: patel hr. Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1116-1130. doi: 10.1002/ajmg.b.32493. Epub 2016 Aug 30. Am J Med Genet B Neuropsychiatr Genet. 2016. PMID: 27573710
ADGRL3 (LPHN3) variants predict substance use disorder.
Arcos-Burgos M, Vélez JI, Martinez AF, Ribasés M, Ramos-Quiroga JA, Sánchez-Mora C, Richarte V, Roncero C, Cormand B, Fernández-Castillo N, Casas M, Lopera F, Pineda DA, Palacio JD, Acosta-López JE, Cervantes-Henriquez ML, Sánchez-Rojas MG, Puentes-Rozo PJ, Molina BSG; MTA Cooperative Group; Boden MT, Wallis D, Lidbury B, Newman S, Easteal S, Swanson J, Patel H, Volkow N, Acosta MT, Castellanos FX, de Leon J, Mastronardi CA, Muenke M. Arcos-Burgos M, et al. Transl Psychiatry. 2019 Jan 29;9(1):42. doi: 10.1038/s41398-019-0396-7. Transl Psychiatry. 2019. PMID: 30696812 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.
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.
298 results