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Rare neurovascular genetic and imaging markers across neurodegenerative diseases.
Dilliott AA, Berberian SA, Sunderland KM, Binns MA, Zimmer J, Ozzoude M, Scott CJM, Gao F, Lang AE, Breen DP, Tartaglia MC, Tan B, Swartz RH, Rogaeva E, Borrie M, Finger E, Fischer CE, Frank A, Freedman M, Kumar S, Pasternak S, Pollock BG, Rajji TK, Tang-Wai DF, Abrahao A, Turnbull J, Zinman L, Casaubon L, Dowlatshahi D, Hassan A, Mandzia J, Sahlas D, Saposnik G, Grimes D, Marras C, Steeves T, Masellis M, Farhan SMK, Bartha R, Symons S, Hegele RA, Black SE, Ramirez J; ONDRI Investigators. Dilliott AA, et al. Alzheimers Dement. 2023 Dec;19(12):5583-5595. doi: 10.1002/alz.13316. Epub 2023 Jun 5. Alzheimers Dement. 2023. PMID: 37272523
The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration.
Farhan SMK, Dilliott AA, Ghani M, Sato C, Liang E, Zhang M, McIntyre AD, Cao H, Racacho L, Robinson JF, Strong MJ, Masellis M, St George-Hyslop P, Bulman DE, Rogaeva E, Hegele RA; ONDRI Investigators. Farhan SMK, et al. Among authors: dilliott aa. NPJ Genom Med. 2016 Sep 21;1:16032. doi: 10.1038/npjgenmed.2016.32. eCollection 2016. NPJ Genom Med. 2016. PMID: 29263818 Free PMC article.
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease.
Dilliott AA, Farhan SMK, Ghani M, Sato C, Liang E, Zhang M, McIntyre AD, Cao H, Racacho L, Robinson JF, Strong MJ, Masellis M, Bulman DE, Rogaeva E, Lang A, Tartaglia C, Finger E, Zinman L, Turnbull J, Freedman M, Swartz R, Black SE, Hegele RA. Dilliott AA, et al. J Vis Exp. 2018 Apr 4;(134):57266. doi: 10.3791/57266. J Vis Exp. 2018. PMID: 29683450 Free PMC article.
A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome.
Wang LR, Radonjic A, Dilliott AA, McIntyre AD, Hegele RA. Wang LR, et al. Among authors: dilliott aa. J Investig Med High Impact Case Rep. 2018 Jul 12;6:2324709618786770. doi: 10.1177/2324709618786770. eCollection 2018 Jan-Dec. J Investig Med High Impact Case Rep. 2018. PMID: 30023403 Free PMC article.
Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative.
Dilliott AA, Evans EC, Farhan SMK, Ghani M, Sato C, Zhang M, McIntyre AD, Cao H, Racacho L, Robinson JF, Strong MJ, Masellis M, Bulman DE, Rogaeva E, Black SE, Finger E, Frank A, Freedman M, Hassan A, Lang A, Shoesmith CL, Swartz RH, Tang-Wai D, Tartaglia MC, Turnbull J, Zinman L; ONDRI Investigators; Hegele RA. Dilliott AA, et al. Can J Neurol Sci. 2019 Sep;46(5):491-498. doi: 10.1017/cjn.2019.228. Epub 2019 Aug 15. Can J Neurol Sci. 2019. PMID: 31217043
Parkinson's Disease, NOTCH3 Genetic Variants, and White Matter Hyperintensities.
Ramirez J, Dilliott AA, Binns MA, Breen DP, Evans EC, Beaton D, McLaughlin PM, Kwan D, Holmes MF, Ozzoude M, Scott CJM, Strother SC, Symons S, Swartz RH, Grimes D, Jog M, Masellis M, Black SE, Joutel A, Marras C, Rogaeva E, Hegele RA, Lang AE; Ontario Neurodegenerative Disease Research Initiative Investigators. Ramirez J, et al. Among authors: dilliott aa. Mov Disord. 2020 Nov;35(11):2090-2095. doi: 10.1002/mds.28171. Epub 2020 Jun 23. Mov Disord. 2020. PMID: 32573853
Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia.
Dron JS, Dilliott AA, Lawson A, McIntyre AD, Davis BD, Wang J, Cao H, Movsesyan I, Malloy MJ, Pullinger CR, Kane JP, Hegele RA. Dron JS, et al. Among authors: dilliott aa. Arterioscler Thromb Vasc Biol. 2020 Aug;40(8):1935-1941. doi: 10.1161/ATVBAHA.120.314168. Epub 2020 Jun 25. Arterioscler Thromb Vasc Biol. 2020. PMID: 32580631 Free article.
34 results