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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. Acta Neuropathol. 2024 Apr 10;147(1):70. doi: 10.1007/s00401-024-02721-1. Acta Neuropathol. 2024. PMID: 38598053 Free PMC article.
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. medRxiv [Preprint]. 2023 Dec 18:2023.12.18.23300145. doi: 10.1101/2023.12.18.23300145. medRxiv. 2023. PMID: 38196599 Free PMC article. Preprint.
Polygenic risk score penetrance & recurrence risk in familial Alzheimer disease.
Qiao M, Lee AJ, Reyes-Dumeyer D, Tosto G, Faber K, Goate A, Renton A, Chao M, Boeve B, Cruchaga C, Pericak-Vance M, Haines JL, Rosenberg R, Tsuang D, Sweet RA, Bennett DA, Wilson RS, Foroud T, Mayeux R, Vardarajan BN. Qiao M, et al. Ann Clin Transl Neurol. 2023 May;10(5):744-756. doi: 10.1002/acn3.51757. Epub 2023 Mar 22. Ann Clin Transl Neurol. 2023. PMID: 36946865 Free PMC article.
Progranulin mutations in clinical and neuropathological Alzheimer's disease.
Vardarajan BN, Reyes-Dumeyer D, Piriz AL, Lantigua RA, Medrano M, Rivera D, Jiménez-Velázquez IZ, Martin E, Pericak-Vance MA, Bush W, Farrer L, Haines JL, Wang LS, Leung YY, Schellenberg G, Kukull W, De Jager P, Bennett DA, Schneider JA; Alzheimer's Disease Sequencing Project; Mayeux R. Vardarajan BN, et al. Alzheimers Dement. 2022 Dec;18(12):2458-2467. doi: 10.1002/alz.12567. Epub 2022 Feb 9. Alzheimers Dement. 2022. PMID: 35258170 Free PMC article.