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Page 1
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
Qiao L, Xu L, Yu L, Wynn J, Hernan R, Zhou X, Farkouh-Karoleski C, Krishnan US, Khlevner J, De A, Zygmunt A, Crombleholme T, Lim FY, Needelman H, Cusick RA, Mychaliska GB, Warner BW, Wagner AJ, Danko ME, Chung D, Potoka D, Kosiński P, McCulley DJ, Elfiky M, Azarow K, Fialkowski E, Schindel D, Soffer SZ, Lyon JB, Zalieckas JM, Vardarajan BN, Aspelund G, Duron VP, High FA, Sun X, Donahoe PK, Shen Y, Chung WK. Qiao L, et al. Among authors: vardarajan bn. Am J Hum Genet. 2021 Oct 7;108(10):1964-1980. doi: 10.1016/j.ajhg.2021.08.011. Epub 2021 Sep 20. Am J Hum Genet. 2021. PMID: 34547244 Free PMC article.
ABCA7-dependent Neuropeptide-Y signalling is a resilience mechanism required for synaptic integrity in Alzheimer's disease.
Tayran H, Yilmaz E, Bhattarai P, Min Y, Wang X, Ma Y, Nelson N, Kassara N, Cosacak MI, Dogru RM, Reyes-Dumeyer D, Reddy JS, Qiao M, Flaherty D, Teich AF, Gunasekaran TI, Yang Z, Tosto G, Vardarajan BN, İş Ö, Ertekin-Taner N, Mayeux R, Kizil C. Tayran H, et al. Among authors: vardarajan bn. bioRxiv [Preprint]. 2024 Jan 2:2024.01.02.573893. doi: 10.1101/2024.01.02.573893. bioRxiv. 2024. PMID: 38260408 Free PMC article. Preprint.
Identification of Rare Damaging Missense and Loss of Function Variants in GWAS Loci Using Genome Sequencing Data from Two Cohorts of Familial Late-Onset Alzheimer's Disease.
Gunasekaran TI, Reyes-Dumeyer D, Faber KM, Goate A, Boeve B, Cruchaga C, Pericak-Vance M, Haines JL, Rosenberg R, Tsuang D, Mejia DR, Medrano M, Lantigua RA, Sweet RA, Bennett DA, Wilson RS, Foroud T, Vardarajan BN, Mayeux R. Gunasekaran TI, et al. Among authors: vardarajan bn. medRxiv [Preprint]. 2023 Dec 18:2023.12.18.23300145. doi: 10.1101/2023.12.18.23300145. medRxiv. 2023. PMID: 38196599 Free PMC article. Preprint.
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK. Glessner JT, et al. Circ Res. 2014 Oct 24;115(10):884-896. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9. Circ Res. 2014. PMID: 25205790 Free PMC article. Clinical Trial.
Coding mutations in SORL1 and Alzheimer disease.
Vardarajan BN, Zhang Y, Lee JH, Cheng R, Bohm C, Ghani M, Reitz C, Reyes-Dumeyer D, Shen Y, Rogaeva E, St George-Hyslop P, Mayeux R. Vardarajan BN, et al. Ann Neurol. 2015 Feb;77(2):215-27. doi: 10.1002/ana.24305. Ann Neurol. 2015. PMID: 25382023 Free PMC article.
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA Jr, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK. Homsy J, et al. Science. 2015 Dec 4;350(6265):1262-6. doi: 10.1126/science.aac9396. Science. 2015. PMID: 26785492 Free PMC article.
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Ada… See abstract for full author list ➔ Sims R, et al. Among authors: vardarajan bn. Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17. Nat Genet. 2017. PMID: 28714976 Free PMC article.
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomi… See abstract for full author list ➔ Kunkle BW, et al. Among authors: vardarajan bn. Nat Genet. 2019 Mar;51(3):414-430. doi: 10.1038/s41588-019-0358-2. Epub 2019 Feb 28. Nat Genet. 2019. PMID: 30820047 Free PMC article.
Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.
Holton P, Ryten M, Nalls M, Trabzuni D, Weale ME, Hernandez D, Crehan H, Gibbs JR, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD; Alzheimer's Disease Genetics Consortium; Ramirez-Restrepo M, Engel A, Myers AJ, Corneveaux JJ, Huentelman MJ, Dillman A, Cookson MR, Reiman EM, Singleton A, Hardy J, Guerreiro R. Holton P, et al. Ann Hum Genet. 2013 Mar;77(2):85-105. doi: 10.1111/ahg.12000. Epub 2013 Jan 30. Ann Hum Genet. 2013. PMID: 23360175 Free PMC article.
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.
Reitz C, Jun G, Naj A, Rajbhandary R, Vardarajan BN, Wang LS, Valladares O, Lin CF, Larson EB, Graff-Radford NR, Evans D, De Jager PL, Crane PK, Buxbaum JD, Murrell JR, Raj T, Ertekin-Taner N, Logue M, Baldwin CT, Green RC, Barnes LL, Cantwell LB, Fallin MD, Go RC, Griffith P, Obisesan TO, Manly JJ, Lunetta KL, Kamboh MI, Lopez OL, Bennett DA, Hendrie H, Hall KS, Goate AM, Byrd GS, Kukull WA, Foroud TM, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD, Mayeux R; Alzheimer Disease Genetics Consortium. Reitz C, et al. Among authors: vardarajan bn. JAMA. 2013 Apr 10;309(14):1483-92. doi: 10.1001/jama.2013.2973. JAMA. 2013. PMID: 23571587 Free PMC article.
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. Cukier HN, et al. Among authors: vardarajan bn. Neurol Genet. 2016 May 17;2(3):e79. doi: 10.1212/NXG.0000000000000079. eCollection 2016 Jun. Neurol Genet. 2016. PMID: 27231719 Free PMC article.
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. Kunkle BW, et al. Among authors: vardarajan bn. JAMA Neurol. 2017 Sep 1;74(9):1113-1122. doi: 10.1001/jamaneurol.2017.1518. JAMA Neurol. 2017. PMID: 28738127 Free PMC article.
Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.
Raghavan NS, Brickman AM, Andrews H, Manly JJ, Schupf N, Lantigua R, Wolock CJ, Kamalakaran S, Petrovski S, Tosto G, Vardarajan BN, Goldstein DB, Mayeux R; Alzheimer's Disease Sequencing Project. Raghavan NS, et al. Among authors: vardarajan bn. Ann Clin Transl Neurol. 2018 May 24;5(7):832-842. doi: 10.1002/acn3.582. eCollection 2018 Jul. Ann Clin Transl Neurol. 2018. PMID: 30009200 Free PMC article.
Pedigree Selection and Information Content.
Vardarajan BN, Beecham GW, Haines JL. Vardarajan BN, et al. Curr Protoc Hum Genet. 2018 Apr;97(1):e56. doi: 10.1002/cphg.56. Curr Protoc Hum Genet. 2018. PMID: 30040223
Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease.
Beecham GW, Vardarajan B, Blue E, Bush W, Jaworski J, Barral S, DeStefano A, Hamilton-Nelson K, Kunkle B, Martin ER, Naj A, Rajabli F, Reitz C, Thornton T, van Duijn C, Goate A, Seshadri S, Farrer LA, Boerwinkle E, Schellenberg G, Haines JL, Wijsman E, Mayeux R, Pericak-Vance MA; Alzheimer's Disease Sequencing Project. Beecham GW, et al. Neurol Genet. 2018 Nov 21;4(6):e286. doi: 10.1212/NXG.0000000000000286. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30569016 Free PMC article.
Association of Variants in PINX1 and TREM2 With Late-Onset Alzheimer Disease.
Tosto G, Vardarajan B, Sariya S, Brickman AM, Andrews H, Manly JJ, Schupf N, Reyes-Dumeyer D, Lantigua R, Bennett DA, De Jager PL, Mayeux R. Tosto G, et al. JAMA Neurol. 2019 Aug 1;76(8):942-948. doi: 10.1001/jamaneurol.2019.1066. JAMA Neurol. 2019. PMID: 31058951 Free PMC article.
Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomi… See abstract for full author list ➔ Kunkle BW, et al. Among authors: vardarajan bn. Nat Genet. 2019 Sep;51(9):1423-1424. doi: 10.1038/s41588-019-0495-7. Nat Genet. 2019. PMID: 31417202 Free PMC article.
Synonymous variants associated with Alzheimer disease in multiplex families.
Tang M, Alaniz ME, Felsky D, Vardarajan B, Reyes-Dumeyer D, Lantigua R, Medrano M, Bennett DA, de Jager PL, Mayeux R, Santa-Maria I, Reitz C. Tang M, et al. Neurol Genet. 2020 Jun 8;6(4):e450. doi: 10.1212/NXG.0000000000000450. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32637632 Free PMC article.
Genetic variants and functional pathways associated with resilience to Alzheimer's disease.
Dumitrescu L, Mahoney ER, Mukherjee S, Lee ML, Bush WS, Engelman CD, Lu Q, Fardo DW, Trittschuh EH, Mez J, Kaczorowski C, Hernandez Saucedo H, Widaman KF, Buckley R, Properzi M, Mormino E, Yang HS, Harrison T, Hedden T, Nho K, Andrews SJ, Tommet D, Hadad N, Sanders RE, Ruderfer DM, Gifford KA, Moore AM, Cambronero F, Zhong X, Raghavan NS, Vardarajan B; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer’s Disease Genetics Consortium (ADGC), A4 Study Team; Pericak-Vance MA, Farrer LA, Wang LS, Cruchaga C, Schellenberg G, Cox NJ, Haines JL, Keene CD, Saykin AJ, Larson EB, Sperling RA, Mayeux R, Bennett DA, Schneider JA, Crane PK, Jefferson AL, Hohman TJ. Dumitrescu L, et al. Brain. 2020 Aug 1;143(8):2561-2575. doi: 10.1093/brain/awaa209. Brain. 2020. PMID: 32844198 Free PMC article.
Embryonic lethal genetic variants and chromosomally normal pregnancy loss.
Kline J, Vardarajan B, Abhyankar A, Kytömaa S, Levin B, Sobreira N, Tang A, Thomas-Wilson A, Zhang R, Jobanputra V. Kline J, et al. Fertil Steril. 2021 Nov;116(5):1351-1358. doi: 10.1016/j.fertnstert.2021.06.039. Fertil Steril. 2021. PMID: 34756330 Free article.
Cell subtype-specific effects of genetic variation in the Alzheimer's disease brain.
Fujita M, Gao Z, Zeng L, McCabe C, White CC, Ng B, Green GS, Rozenblatt-Rosen O, Phillips D, Amir-Zilberstein L, Lee H, Pearse RV 2nd, Khan A, Vardarajan BN, Kiryluk K, Ye CJ, Klein HU, Wang G, Regev A, Habib N, Schneider JA, Wang Y, Young-Pearse T, Mostafavi S, Bennett DA, Menon V, De Jager PL. Fujita M, et al. Among authors: vardarajan bn. Nat Genet. 2024 Apr;56(4):605-614. doi: 10.1038/s41588-024-01685-y. Epub 2024 Mar 21. Nat Genet. 2024. PMID: 38514782
SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk.
Reitz C, Tokuhiro S, Clark LN, Conrad C, Vonsattel JP, Hazrati LN, Palotás A, Lantigua R, Medrano M, Z Jiménez-Velázquez I, Vardarajan B, Simkin I, Haines JL, Pericak-Vance MA, Farrer LA, Lee JH, Rogaeva E, George-Hyslop PS, Mayeux R. Reitz C, et al. Ann Neurol. 2011 Jan;69(1):47-64. doi: 10.1002/ana.22308. Ann Neurol. 2011. PMID: 21280075 Free PMC article.
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. Logue MW, et al. Among authors: vardarajan bn. Arch Neurol. 2011 Dec;68(12):1569-79. doi: 10.1001/archneurol.2011.646. Arch Neurol. 2011. PMID: 22159054 Free PMC article.
Disease-related mutations among Caribbean Hispanics with familial dementia.
Lee JH, Kahn A, Cheng R, Reitz C, Vardarajan B, Lantigua R, Medrano M, Jiménez-Velázquez IZ, Williamson J, Nagy P, Mayeux R. Lee JH, et al. Mol Genet Genomic Med. 2014 Sep;2(5):430-7. doi: 10.1002/mgg3.85. Epub 2014 Jun 4. Mol Genet Genomic Med. 2014. PMID: 25333068 Free PMC article.
Sex differences in the genetic architecture of cognitive resilience to Alzheimer's disease.
Eissman JM, Dumitrescu L, Mahoney ER, Smith AN, Mukherjee S, Lee ML, Scollard P, Choi SE, Bush WS, Engelman CD, Lu Q, Fardo DW, Trittschuh EH, Mez J, Kaczorowski CC, Hernandez Saucedo H, Widaman KF, Buckley RF, Properzi MJ, Mormino EC, Yang HS, Harrison TM, Hedden T, Nho K, Andrews SJ, Tommet D, Hadad N, Sanders RE, Ruderfer DM, Gifford KA, Zhong X, Raghavan NS, Vardarajan BN; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer’s Disease Genetics Consortium (ADGC); A4 Study Team; Pericak-Vance MA, Farrer LA, Wang LS, Cruchaga C, Schellenberg GD, Cox NJ, Haines JL, Keene CD, Saykin AJ, Larson EB, Sperling RA, Mayeux R, Cuccaro ML, Bennett DA, Schneider JA, Crane PK, Jefferson AL, Hohman TJ. Eissman JM, et al. Among authors: vardarajan bn. Brain. 2022 Jul 29;145(7):2541-2554. doi: 10.1093/brain/awac177. Brain. 2022. PMID: 35552371 Free PMC article.
Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease.
Xicota L, Cosentino S, Vardarajan B, Mayeux R, Perls TT, Andersen SL, Zmuda JM, Thyagarajan B, Yashin A, Wojczynski MK, Krinsky-McHale S, Handen BL, Christian BT, Head E, Mapstone ME, Schupf N, Lee JH, Barral S; Long‐Life Family Study (LLFS); Alzheimer's Disease Genetic Consortium (ADGC); Alzheimer's Biomarkers Consortium‐Down Syndrome (ABC‐DS). Xicota L, et al. Alzheimers Dement. 2024 Apr;20(4):2670-2679. doi: 10.1002/alz.13718. Epub 2024 Feb 21. Alzheimers Dement. 2024. PMID: 38380866 Free PMC article.
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.
Bhattarai P, Gunasekaran TI, Belloy ME, Reyes-Dumeyer D, Jülich D, Tayran H, Yilmaz E, Flaherty D, Turgutalp B, Sukumar G, Alba C, McGrath EM, Hupalo DN, Bacikova D, Le Guen Y, Lantigua R, Medrano M, Rivera D, Recio P, Nuriel T, Ertekin-Taner N, Teich AF, Dickson DW, Holley S, Greicius M, Dalgard CL, Zody M, Mayeux R, Kizil C, Vardarajan BN. Bhattarai P, et al. Among authors: vardarajan bn. Acta Neuropathol. 2024 Apr 10;147(1):70. doi: 10.1007/s00401-024-02721-1. Acta Neuropathol. 2024. PMID: 38598053 Free PMC article.
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. Logue MW, et al. Among authors: vardarajan bn. Alzheimers Dement. 2014 Nov;10(6):609-618.e11. doi: 10.1016/j.jalz.2014.06.010. Epub 2014 Aug 27. Alzheimers Dement. 2014. PMID: 25172201 Free PMC article.
Analysis of shared heritability in common disorders of the brain.
Brainstorm Consortium; Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Fr… See abstract for full author list ➔ Brainstorm Consortium, et al. Among authors: vardarajan bn. Science. 2018 Jun 22;360(6395):eaap8757. doi: 10.1126/science.aap8757. Science. 2018. PMID: 29930110 Free PMC article.
A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease.
Zhang X, Zhu C, Beecham G, Vardarajan BN, Ma Y, Lancour D, Farrell JJ, Chung J; Alzheimer's Disease Sequencing Project; Mayeux R, Haines JL, Schellenberg GD, Pericak-Vance MA, Lunetta KL, Farrer LA. Zhang X, et al. Among authors: vardarajan bn. Alzheimers Dement. 2019 Mar;15(3):441-452. doi: 10.1016/j.jalz.2018.10.005. Epub 2019 Jan 3. Alzheimers Dement. 2019. PMID: 30503768 Free PMC article.
Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis.
Kunkle BW, Schmidt M, Klein HU, Naj AC, Hamilton-Nelson KL, Larson EB, Evans DA, De Jager PL, Crane PK, Buxbaum JD, Ertekin-Taner N, Barnes LL, Fallin MD, Manly JJ, Go RCP, Obisesan TO, Kamboh MI, Bennett DA, Hall KS, Goate AM, Foroud TM, Martin ER, Wang LS, Byrd GS, Farrer LA, Haines JL, Schellenberg GD, Mayeux R, Pericak-Vance MA, Reitz C; Writing Group for the Alzheimer’s Disease Genetics Consortium (ADGC); Graff-Radford NR, Martinez I, Ayodele T, Logue MW, Cantwell LB, Jean-Francois M, Kuzma AB, Adams LD, Vance JM, Cuccaro ML, Chung J, Mez J, Lunetta KL, Jun GR, Lopez OL, Hendrie HC, Reiman EM, Kowall NW, Leverenz JB, Small SA, Levey AI, Golde TE, Saykin AJ, Starks TD, Albert MS, Hyman BT, Petersen RC, Sano M, Wisniewski T, Vassar R, Kaye JA, Henderson VW, DeCarli C, LaFerla FM, Brewer JB, Miller BL, Swerdlow RH, Van Eldik LJ, Paulson HL, Trojanowski JQ, Chui HC, Rosenberg RN, Craft S, Grabowski TJ, Asthana S, Morris JC, Strittmatter SM, Kukull WA. Kunkle BW, et al. JAMA Neurol. 2021 Jan 1;78(1):102-113. doi: 10.1001/jamaneurol.2020.3536. JAMA Neurol. 2021. PMID: 33074286 Free PMC article.
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
Whitcomb DC, LaRusch J, Krasinskas AM, Klei L, Smith JP, Brand RE, Neoptolemos JP, Lerch MM, Tector M, Sandhu BS, Guda NM, Orlichenko L; Alzheimer's Disease Genetics Consortium; Alkaade S, Amann ST, Anderson MA, Baillie J, Banks PA, Conwell D, Coté GA, Cotton PB, DiSario J, Farrer LA, Forsmark CE, Johnstone M, Gardner TB, Gelrud A, Greenhalf W, Haines JL, Hartman DJ, Hawes RA, Lawrence C, Lewis M, Mayerle J, Mayeux R, Melhem NM, Money ME, Muniraj T, Papachristou GI, Pericak-Vance MA, Romagnuolo J, Schellenberg GD, Sherman S, Simon P, Singh VP, Slivka A, Stolz D, Sutton R, Weiss FU, Wilcox CM, Zarnescu NO, Wisniewski SR, O'Connell MR, Kienholz ML, Roeder K, Barmada MM, Yadav D, Devlin B. Whitcomb DC, et al. Nat Genet. 2012 Dec;44(12):1349-54. doi: 10.1038/ng.2466. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143602 Free PMC article.
Independent and epistatic effects of variants in VPS10-d receptors on Alzheimer disease risk and processing of the amyloid precursor protein (APP).
Reitz C, Tosto G, Vardarajan B, Rogaeva E, Ghani M, Rogers RS, Conrad C, Haines JL, Pericak-Vance MA, Fallin MD, Foroud T, Farrer LA, Schellenberg GD, George-Hyslop PS, Mayeux R; Alzheimer's Disease Genetics Consortium (ADGC). Reitz C, et al. Transl Psychiatry. 2013 May 14;3(5):e256. doi: 10.1038/tp.2013.13. Transl Psychiatry. 2013. PMID: 23673467 Free PMC article.
Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk.
Hohman TJ, Cooke-Bailey JN, Reitz C, Jun G, Naj A, Beecham GW, Liu Z, Carney RM, Vance JM, Cuccaro ML, Rajbhandary R, Vardarajan BN, Wang LS, Valladares O, Lin CF, Larson EB, Graff-Radford NR, Evans D, De Jager PL, Crane PK, Buxbaum JD, Murrell JR, Raj T, Ertekin-Taner N, Logue MW, Baldwin CT, Green RC, Barnes LL, Cantwell LB, Fallin MD, Go RC, Griffith P, Obisesan TO, Manly JJ, Lunetta KL, Kamboh MI, Lopez OL, Bennett DA, Hardy J, Hendrie HC, Hall KS, Goate AM, Lang R, Byrd GS, Kukull WA, Foroud TM, Farrer LA, Martin ER, Pericak-Vance MA, Schellenberg GD, Mayeux R, Haines JL, Thornton-Wells TA; Alzheimer Disease Genetics Consortium. Hohman TJ, et al. Among authors: vardarajan bn. Alzheimers Dement. 2016 Mar;12(3):233-43. doi: 10.1016/j.jalz.2015.02.012. Epub 2015 Jun 16. Alzheimers Dement. 2016. PMID: 26092349 Free PMC article.
Genetic variants associated with susceptibility to psychosis in late-onset Alzheimer's disease families.
Barral S, Vardarajan BN, Reyes-Dumeyer D, Faber KM, Bird TD, Tsuang D, Bennett DA, Rosenberg R, Boeve BF, Graff-Radford NR, Goate AM, Farlow M, Lantigua R, Medrano MZ, Wang X, Kamboh MI, Barmada MM, Schaid DJ, Foroud TM, Weamer EA, Ottman R, Sweet RA, Mayeux R; NIA-LOAD/NCRAD Family Study Group. Barral S, et al. Among authors: vardarajan bn. Neurobiol Aging. 2015 Nov;36(11):3116.e9-3116.e16. doi: 10.1016/j.neurobiolaging.2015.08.006. Epub 2015 Aug 15. Neurobiol Aging. 2015. PMID: 26359528 Free PMC article.
Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease.
Vardarajan BN, Tosto G, Lefort R, Yu L, Bennett DA, De Jager PL, Barral S, Reyes-Dumeyer D, Nagy PL, Lee JH, Cheng R, Medrano M, Lantigua R, Rogaeva E, St George-Hyslop P, Mayeux R. Vardarajan BN, et al. Neurol Genet. 2017 Aug 24;3(5):e178. doi: 10.1212/NXG.0000000000000178. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28852706 Free PMC article.
Ancestral origin of ApoE ε4 Alzheimer disease risk in Puerto Rican and African American populations.
Rajabli F, Feliciano BE, Celis K, Hamilton-Nelson KL, Whitehead PL, Adams LD, Bussies PL, Manrique CP, Rodriguez A, Rodriguez V, Starks T, Byfield GE, Sierra Lopez CB, McCauley JL, Acosta H, Chinea A, Kunkle BW, Reitz C, Farrer LA, Schellenberg GD, Vardarajan BN, Vance JM, Cuccaro ML, Martin ER, Haines JL, Byrd GS, Beecham GW, Pericak-Vance MA. Rajabli F, et al. Among authors: vardarajan bn. PLoS Genet. 2018 Dec 5;14(12):e1007791. doi: 10.1371/journal.pgen.1007791. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30517106 Free PMC article.
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