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Items: 1 to 20 of 95

1.

Targeted Sequencing of Alzheimer Disease Genes in African Americans Implicates Novel Risk Variants.

Logue MW, Lancour D, Farrell J, Simkina I, Fallin MD, Lunetta KL, Farrer LA.

Front Neurosci. 2018 Aug 27;12:592. doi: 10.3389/fnins.2018.00592. eCollection 2018.

2.

Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans.

Logue MW, Schu M, Vardarajan BN, Farrell J, Bennett DA, Buxbaum JD, Byrd GS, Ertekin-Taner N, Evans D, Foroud T, Goate A, Graff-Radford NR, Kamboh MI, Kukull WA, Manly JJ; Alzheimer Disease Genetics Consortium; Alzheimer Disease Genetics Consortium.

Alzheimers Dement. 2014 Nov;10(6):609-618.e11. doi: 10.1016/j.jalz.2014.06.010. Epub 2014 Aug 27.

3.

Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport.

Kunkle BW, Vardarajan BN, Naj AC, Whitehead PL, Rolati S, Slifer S, Carney RM, Cuccaro ML, Vance JM, Gilbert JR, Wang LS, Farrer LA, Reitz C, Haines JL, Beecham GW, Martin ER, Schellenberg GD, Mayeux RP, Pericak-Vance MA.

JAMA Neurol. 2017 Sep 1;74(9):1113-1122. doi: 10.1001/jamaneurol.2017.1518.

4.

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.

Cukier HN, Kunkle BW, Vardarajan BN, Rolati S, Hamilton-Nelson KL, Kohli MA, Whitehead PL, Dombroski BA, Van Booven D, Lang R, Dykxhoorn DM, Farrer LA, Cuccaro ML, Vance JM, Gilbert JR, Beecham GW, Martin ER, Carney RM, Mayeux R, Schellenberg GD, Byrd GS, Haines JL, Pericak-Vance MA; Alzheimer's Disease Genetics Consortium.

Neurol Genet. 2016 May 17;2(3):e79. doi: 10.1212/NXG.0000000000000079. eCollection 2016 Jun.

5.

Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease.

Kunkle BW, Carney RM, Kohli MA, Naj AC, Hamilton-Nelson KL, Whitehead PL, Wang L, Lang R, Cuccaro ML, Vance JM, Byrd GS, Beecham GW, Gilbert JR, Martin ER, Haines JL, Pericak-Vance MA.

Neurosci Lett. 2017 May 10;649:124-129. doi: 10.1016/j.neulet.2017.04.014. Epub 2017 Apr 8.

PMID:
28400126
6.

Rare ABCA7 variants in 2 German families with Alzheimer disease.

May P, Pichler S, Hartl D, Bobbili DR, Mayhaus M, Spaniol C, Kurz A, Balling R, Schneider JG, Riemenschneider M.

Neurol Genet. 2018 Mar 21;4(2):e224. doi: 10.1212/NXG.0000000000000224. eCollection 2018 Apr.

7.

ABCA7 p.G215S as potential protective factor for Alzheimer's disease.

Sassi C, Nalls MA, Ridge PG, Gibbs JR, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Clement N, Lord J, Turton J, Bras J, Almeida MR; ARUK Consortium, Holstege H, Louwersheimer E, van der Flier WM, Scheltens P, Van Swieten JC, Santana I, Oliveira C, Morgan K, Powell JF, Kauwe JS, Cruchaga C, Goate AM, Singleton AB, Guerreiro R, Hardy J.

Neurobiol Aging. 2016 Oct;46:235.e1-9. doi: 10.1016/j.neurobiolaging.2016.04.004. Epub 2016 Apr 20.

8.

Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European-Americans.

Del-Aguila JL, Fernández MV, Jimenez J, Black K, Ma S, Deming Y, Carrell D, Saef B; Alzheimer’s Disease Neuroimaging Initiative, Howells B, Budde J, Cruchaga C.

Alzheimers Res Ther. 2015 Dec 10;7(1):73. doi: 10.1186/s13195-015-0154-x.

9.

Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype.

Ma Y, Jun GR, Zhang X, Chung J, Naj AC, Chen Y, Bellenguez C, Hamilton-Nelson K, Martin ER, Kunkle BW, Bis JC, Debette S, DeStefano AL, Fornage M, Nicolas G, van Duijn C, Bennett DA, De Jager PL, Mayeux R, Haines JL, Pericak-Vance MA, Seshadri S, Lambert JC, Schellenberg GD, Lunetta KL, Farrer LA; Alzheimer’s Disease Sequencing Project and Alzheimer’s Disease Exome Sequencing–France Project.

JAMA Neurol. 2019 Jun 10. doi: 10.1001/jamaneurol.2019.1456. [Epub ahead of print]

PMID:
31180460
10.

Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease.

Patel T, Brookes KJ, Turton J, Chaudhury S, Guetta-Baranes T, Guerreiro R, Bras J, Hernandez D, Singleton A, Francis PT, Hardy J, Morgan K.

Neuropathol Appl Neurobiol. 2018 Aug;44(5):506-521. doi: 10.1111/nan.12452. Epub 2018 Jan 7.

11.

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues JF, Debette S, Deleuze JF, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, Ikram MA, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimäki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance MA, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes AM, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton TA, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Vardarajan B, Wang W, Wijsman E, Wilson RK, Witten D, Worley KC, Zhang X; Alzheimer’s Disease Sequencing Project, Bellenguez C, Lambert JC, Kurki MI, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M, Farrer LA.

Mol Psychiatry. 2018 Aug 14. doi: 10.1038/s41380-018-0112-7. [Epub ahead of print]

PMID:
30108311
12.

African American exome sequencing identifies potential risk variants at Alzheimer disease loci.

N'Songo A, Carrasquillo MM, Wang X, Burgess JD, Nguyen T, Asmann YW, Serie DJ, Younkin SG, Allen M, Pedraza O, Duara R, Greig Custo MT, Graff-Radford NR, Ertekin-Taner N.

Neurol Genet. 2017 Apr 7;3(2):e141. doi: 10.1212/NXG.0000000000000141. eCollection 2017 Apr.

13.

Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.

Patel D, Mez J, Vardarajan BN, Staley L, Chung J, Zhang X, Farrell JJ, Rynkiewicz MJ, Cannon-Albright LA, Teerlink CC, Stevens J, Corcoran C, Gonzalez Murcia JD, Lopez OL, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg G, Kauwe JSK, Lunetta KL, Farrer LA; Alzheimer’s Disease Sequencing Project.

JAMA Netw Open. 2019 Mar 1;2(3):e191350. doi: 10.1001/jamanetworkopen.2019.1350.

14.

A comprehensive genetic association study of Alzheimer disease in African Americans.

Logue MW, Schu M, Vardarajan BN, Buros J, Green RC, Go RC, Griffith P, Obisesan TO, Shatz R, Borenstein A, Cupples LA, Lunetta KL, Fallin MD, Baldwin CT, Farrer LA; Multi-Institutional Research on Alzheimer Genetic Epidemiology (MIRAGE) Study Group.

Arch Neurol. 2011 Dec;68(12):1569-79. doi: 10.1001/archneurol.2011.646.

15.

ABCA7 rare variants and Alzheimer disease risk.

Le Guennec K, Nicolas G, Quenez O, Charbonnier C, Wallon D, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Pasquier F, Rollin-Sillaire A, Génin E, Lambert JC, Hannequin D, Campion D; CNR-MAJ collaborators.

Neurology. 2016 Jun 7;86(23):2134-7. doi: 10.1212/WNL.0000000000002627. Epub 2016 Apr 1.

16.

Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.

Zuo L, Gelernter J, Zhang CK, Zhao H, Lu L, Kranzler HR, Malison RT, Li CS, Wang F, Zhang XY, Deng HW, Krystal JH, Zhang F, Luo X.

Neuropsychopharmacology. 2012 Jan;37(2):557-66. doi: 10.1038/npp.2011.229. Epub 2011 Sep 28. Erratum in: Neuropsychopharmacology. 2012 Jan;37(2):581-2.

17.

The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics.

De Roeck A, Van Broeckhoven C, Sleegers K.

Acta Neuropathol. 2019 Aug;138(2):201-220. doi: 10.1007/s00401-019-01994-1. Epub 2019 Mar 22. Review.

18.

From Common to Rare Variants: The Genetic Component of Alzheimer Disease.

Nicolas G, Charbonnier C, Campion D.

Hum Hered. 2016;81(3):129-141. doi: 10.1159/000452256. Epub 2016 Dec 22. Review.

PMID:
28002825
19.

Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans.

Du M, Auer PL, Jiao S, Haessler J, Altshuler D, Boerwinkle E, Carlson CS, Carty CL, Chen YD, Curtis K, Franceschini N, Hsu L, Jackson R, Lange LA, Lettre G, Monda KL; National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project, Nickerson DA, Reiner AP, Rich SS, Rosse SA, Rotter JI, Willer CJ, Wilson JG, North K, Kooperberg C, Heard-Costa N, Peters U.

Hum Mol Genet. 2014 Dec 15;23(24):6607-15. doi: 10.1093/hmg/ddu361. Epub 2014 Jul 15.

20.

Whole exome sequencing of extreme age-related macular degeneration phenotypes.

Sardell RJ, Bailey JN, Courtenay MD, Whitehead P, Laux RA, Adams LD, Fortun JA, Brantley MA Jr, Kovach JL, Schwartz SG, Agarwal A, Scott WK, Haines JL, Pericak-Vance MA.

Mol Vis. 2016 Aug 29;22:1062-76. eCollection 2016.

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