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Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease.
Le Guen Y, Belloy ME, Grenier-Boley B, de Rojas I, Castillo-Morales A, Jansen I, Nicolas A, Bellenguez C, Dalmasso C, Küçükali F, Eger SJ, Rasmussen KL, Thomassen JQ, Deleuze JF, He Z, Napolioni V, Amouyel P, Jessen F, Kehoe PG, van Duijn C, Tsolaki M, Sánchez-Juan P, Sleegers K, Ingelsson M, Rossi G, Hiltunen M, Sims R, van der Flier WM, Ramirez A, Andreassen OA, Frikke-Schmidt R, Williams J, Ruiz A, Lambert JC, Greicius MD; Members of the EADB, GR@ACE, DEGESCO, DemGene, GERAD, and EADI Groups; Arosio B, Benussi L, Boland A, Borroni B, Caffarra P, Daian D, Daniele A, Debette S, Dufouil C, Düzel E, Galimberti D, Giedraitis V, Grimmer T, Graff C, Grünblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jürgen D, Kuulasmaa T, van der Lugt A, Masullo C, Mecocci P, Mehrabian S, de Mendonça A, Moebus S, Nacmias B, Nicolas G, Olaso R, Papenberg G, Parnetti L, Pasquier F, Peters O, Pijnenburg YAL, Popp J, Rainero I, Ramakers I, Riedel-Heller S, Scarmeas N, Scheltens P, Scherbaum N, Schneider A, Seripa D, Soininen H, Solfrizzi V, Spalletta G, Squassina A, van Swieten J, Tegos TJ, Tremolizzo L, Verhey F, Vyhnalek M, Wiltfang J, Boada M, García-González P, Puerta R, … See abstract for full author list ➔ Le Guen Y, et al. JAMA Neurol. 2022 Jul 1;79(7):652-663. doi: 10.1001/jamaneurol.2022.1166. JAMA Neurol. 2022. PMID: 35639372 Free PMC article.
KL∗VS heterozygosity reduces brain amyloid in asymptomatic at-risk APOE∗4 carriers.
Belloy ME, Eger SJ, Le Guen Y, Napolioni V, Deters KD, Yang HS, Scelsi MA, Porter T, James SN, Wong A, Schott JM, Sperling RA, Laws SM, Mormino EC, He Z, Han SS, Altmann A, Greicius MD; A4 Study Team; Insight 46 Study Team; Australian Imaging Biomarkers and Lifestyle (AIBL) Study; Alzheimer's Disease Neuroimaging Initiative. Belloy ME, et al. Among authors: le guen y. Neurobiol Aging. 2021 May;101:123-129. doi: 10.1016/j.neurobiolaging.2021.01.008. Epub 2021 Jan 23. Neurobiol Aging. 2021. PMID: 33610961 Free PMC article.
Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics.
He Z, Le Guen Y, Liu L, Lee J, Ma S, Yang AC, Liu X, Rutledge J, Losada PM, Song B, Belloy ME, Butler RR 3rd, Longo FM, Tang H, Mormino EC, Wyss-Coray T, Greicius MD, Ionita-Laza I. He Z, et al. Among authors: le guen y. Am J Hum Genet. 2021 Dec 2;108(12):2336-2353. doi: 10.1016/j.ajhg.2021.10.009. Epub 2021 Nov 11. Am J Hum Genet. 2021. PMID: 34767756 Free PMC article.
Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease.
Eger SJ, Le Guen Y, Khan RR, Hall JN, Kennedy G, Zaharchuk G, Couthouis J, Brooks WS, Velakoulis D, Napolioni V, Belloy ME, Dalgard CL, Mormino EC, Gitler AD, Greicius MD. Eger SJ, et al. Among authors: le guen y. Neurol Genet. 2021 Dec 7;8(1):e647. doi: 10.1212/NXG.0000000000000647. eCollection 2022 Feb. Neurol Genet. 2021. PMID: 34901437 Free PMC article.
Challenges at the APOE locus: a robust quality control approach for accurate APOE genotyping.
Belloy ME, Eger SJ, Le Guen Y, Damotte V, Ahmad S, Ikram MA, Ramirez A, Tsolaki AC, Rossi G, Jansen IE, de Rojas I, Parveen K, Sleegers K, Ingelsson M, Hiltunen M, Amin N, Andreassen O, Sánchez-Juan P, Kehoe P, Amouyel P, Sims R, Frikke-Schmidt R, van der Flier WM, Lambert JC; European Alzheimer & Dementia BioBank (EADB); He Z, Han SS, Napolioni V, Greicius MD. Belloy ME, et al. Among authors: le guen y. Alzheimers Res Ther. 2022 Feb 4;14(1):22. doi: 10.1186/s13195-022-00962-4. Alzheimers Res Ther. 2022. PMID: 35120553 Free PMC article.
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, W… See abstract for full author list ➔ Holstege H, et al. Among authors: le guen y. Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21. Nat Genet. 2022. PMID: 36411364 Free PMC article.
78 results