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Page 1
Missense and Loss of Function Variants at GWAS Loci in Familial 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, Alba C, Dalgard C, Foroud T, Vardarajan BN, Mayeux R. Gunasekaran TI, et al. medRxiv [Preprint]. 2024 Jul 9:2023.12.18.23300145. doi: 10.1101/2023.12.18.23300145. medRxiv. 2024. Update in: Alzheimers Dement. 2024 Nov;20(11):7580-7594. doi: 10.1002/alz.14221 PMID: 38196599 Free PMC article. Updated. Preprint.
Identifying X-Chromosome Variants Associated with Age-Related Macular Degeneration.
Grunin M, Igo RP, Song YE, Blanton SH, Pericak-Vance MA, Haines JL; International Age-related Macular Degeneration Genomics Consortium. Grunin M, et al. medRxiv [Preprint]. 2023 Aug 31:2023.08.28.23294688. doi: 10.1101/2023.08.28.23294688. medRxiv. 2023. Update in: Hum Mol Genet. 2024 Dec 6;33(24):2085-2093. doi: 10.1093/hmg/ddae141 PMID: 37693625 Free PMC article. Updated. Preprint.
Diverse ancestry GWAS for advanced age-related macular degeneration in TOPMed-imputed and Ophthalmologically-confirmed 16,108 cases and 18,038 controls.
Gorski M, Grunin M, Herold JM, Fröhlich B, Behr M, Wheeler N, Bush WS, Song YE, Zhu X, Blanton SH, Pericak-Vance MA, Heid IM, Haines JL; International Age-related Macular Degeneration Genomics Consortium. Gorski M, et al. Among authors: pericak vance ma. medRxiv [Preprint]. 2024 Nov 11:2024.11.08.24316962. doi: 10.1101/2024.11.08.24316962. medRxiv. 2024. PMID: 39606372 Free PMC article. Preprint.
Evaluating the association of APOE genotype and cognitive resilience in SuperAgers.
Durant A, Mukherjee S, Lee ML, Choi SE, Scollard P, Klinedinst BS, Trittschuh EH, Mez J, Farrer LA, Gifford KA, Cruchaga C, Hassenstab J, Naj AC, Wang LS, Johnson SC, Engelman CD, Kukull WA, Keene CD, Saykin AJ, Cuccaro ML, Kunkle BW, Pericak-Vance MA, Martin ER, Bennett DA, Barnes LL, Schneider JA, Bush WS, Haines JL, Mayeux R, Vardarajan BN, Albert MS, Thompson PM, Jefferson AL; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer’s Disease Genetics Consortium (ADGC); Alzheimer’s Disease Sequencing Project (ADSP); Crane PK, Dumitrescu L, Archer DB, Hohman TJ, Gaynor LS. Durant A, et al. Among authors: pericak vance ma. medRxiv [Preprint]. 2025 Jan 7:2025.01.07.25320117. doi: 10.1101/2025.01.07.25320117. medRxiv. 2025. PMID: 39830268 Free PMC article. Preprint.
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[No authors listed] [No authors listed] PMID: 39750810
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A deep catalogue of protein-coding variation in 983,578 individuals.
Sun KY, Bai X, Chen S, Bao S, Zhang C, Kapoor M, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke AE, Ganel L, Hawes A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Di Gioia A, Rajagopal VM, Lopez A, Varela JR, Alegre-Díaz J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton JD, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Sun KY, et al. Nature. 2024 Jul;631(8021):583-592. doi: 10.1038/s41586-024-07556-0. Epub 2024 May 20. Nature. 2024. PMID: 38768635 Free PMC article.
Author Correction: A deep catalogue of protein-coding variation in 983,578 individuals.
Sun KY, Bai X, Chen S, Bao S, Zhang C, Kapoor M, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke AE, Ganel L, Hawes A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Di Gioia A, Rajagopal VM, Lopez A, Varela JR, Alegre-Díaz J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton JD, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Sun KY, et al. Nature. 2025 Jan;637(8047):E26. doi: 10.1038/s41586-024-08571-x. Nature. 2025. PMID: 39779867 Free PMC article. No abstract available.
836 results