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Journal Article

Zhang X, Farrell JJ, Tong T, Hu J, Zhu C, San Wang L-, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg GD, et al. Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease. Alzheimers Dement. 2021 .

Malamon JS, Farrell JJ, Xia LCharlie, Dombroski BA, Das RG, Way J, Kuzma AB, Valladares O, Leung YYee, Scanlon AJ, et al. A comparative study of structural variant calling in WGS from Alzheimer's disease families. Life Sci Alliance. 2024 ;7(5).

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, et al. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nat Genet. 2019 ;51(3):414-430.

Blue EE, Bis JC, Dorschner MO, Tsuang DW, Barral SM, Beecham G, Below JE, Bush WS, Butkiewicz M, Cruchaga C, et al. Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. Dement Geriatr Cogn Disord. 2018 ;45(1-2):1-17.

Escott-Price V, Bellenguez C, San Wang L-, Choi S-H, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, et al. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. PLoS One. 2014 ;9(6):e94661.

Leung YYee, Naj AC, Chou Y-F, Valladares O, Schmidt M, Hamilton-Nelson K, Wheeler N, Lin H, Gangadharan P, Qu L, et al. Human whole-exome genotype data for Alzheimer's disease. Nat Commun. 2024 ;15(1):684.

Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, et al. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nat Genet. 2022 ;54(4):412-436.

Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet. 2017 ;49(9):1373-1384.

Jakobsdottir J, van der Lee SJ, Bis JC, Chouraki V, Li-Kroeger D, Yamamoto S, Grove ML, Naj A, Vronskaya M, Salazar JL, et al. Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. PLoS Genet. 2016 ;12(10):e1006327.

Zhang X, Zhu C, Beecham G, Vardarajan BN, Ma Y, Lancour D, Farrell JJ, Chung J, Mayeux R, Haines JL, et al. A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease. Alzheimers Dement. 2019 .

Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, et al. Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol Psychiatry. 2018 .