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Page 1
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: arkell rm. 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.
Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease.
Caruana G, Farlie PG, Hart AH, Bagheri-Fam S, Wallace MJ, Dobbie MS, Gordon CT, Miller KA, Whittle B, Abud HE, Arkell RM, Cole TJ, Harley VR, Smyth IM, Bertram JF. Caruana G, et al. Among authors: arkell rm. PLoS One. 2013;8(3):e55429. doi: 10.1371/journal.pone.0055429. Epub 2013 Mar 1. PLoS One. 2013. PMID: 23469164 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. 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.
Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling.
Houtmeyers R, Tchouate Gainkam O, Glanville-Jones HA, Van den Bosch B, Chappell A, Barratt KS, Souopgui J, Tejpar S, Arkell RM. Houtmeyers R, et al. Among authors: arkell rm. Hum Mol Genet. 2016 Sep 15;25(18):3946-3959. doi: 10.1093/hmg/ddw235. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466203
Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse.
Mackenzie FE, Romero R, Williams D, Gillingwater T, Hilton H, Dick J, Riddoch-Contreras J, Wong F, Ireson L, Powles-Glover N, Riley G, Underhill P, Hough T, Arkell R, Greensmith L, Ribchester RR, Blanco G. Mackenzie FE, et al. Hum Mol Genet. 2009 Oct 1;18(19):3553-66. doi: 10.1093/hmg/ddp304. Epub 2009 Jul 4. Hum Mol Genet. 2009. PMID: 19578180 Free PMC article.
Overview of Rodent Zic Genes.
Diamand KEM, Barratt KS, Arkell RM. Diamand KEM, et al. Among authors: arkell rm. Adv Exp Med Biol. 2018;1046:179-207. doi: 10.1007/978-981-10-7311-3_10. Adv Exp Med Biol. 2018. PMID: 29442323 Review.
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