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Page 1
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, González-Perez A, Calero M, Franco-Macías E, Macías J, Blesa R, Cervera-Carles L, Menéndez-González M, Frank-García A, Royo JL, Moreno F, Huerto Vilas R, Baquero M, Diez-Fairen M, Lage C, García-Madrona S, García-González P, Alarcón-Martín E, Valero S, Sotolongo-Grau O, Ullgren A, Naj AC, Lemstra AW, Benaque A, Pérez-Cordón A, Benussi A, Rábano A, Padovani A, Squassina A, de Mendonça A, Arias Pastor A, Kok AAL, Meggy A, Pastor AB, Espinosa A, Corma-Gómez A, Martín Montes A, Sanabria Á, DeStefano AL, Schneider A, Haapasalo A, Kinhult Ståhlbom A, Tybjærg-Hansen A, Hartmann AM, Spottke A, Corbatón-Anchuelo A, Rongve A, Borroni B, Arosio B, Nacmias B, Nordestgaard BG, Kunkle BW, Charbonnier C, Abdelnour C, Masullo C, Martínez Rodríguez C, Muñoz-Fernandez C, Dufouil C, Graff C, Ferreira CB, Chillotti C, Reynolds CA, Fenoglio C, Van Broeckhoven C, Clark C, Pisanu C, Satizabal CL, Holmes C, Buiza-Rueda D, Aarsland D, Rujescu D, Alcolea D, Galimberti D, Wallon D, Seripa D, Grün… See abstract for full author list ➔ de Rojas I, et al. Nat Commun. 2021 Jun 7;12(1):3417. doi: 10.1038/s41467-021-22491-8. Nat Commun. 2021. PMID: 34099642 Free PMC article.
Clonal hematopoiesis is associated with protection from Alzheimer's disease.
Bouzid H, Belk JA, Jan M, Qi Y, Sarnowski C, Wirth S, Ma L, Chrostek MR, Ahmad H, Nachun D, Yao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Beiser A, Bick AG, Bis JC, Fornage M, Longstreth WT Jr, Lopez OL, Natarajan P, Psaty BM, Satizabal CL, Weinstock J, Larson EB, Crane PK, Keene CD, Seshadri S, Satpathy AT, Montine TJ, Jaiswal S. Bouzid H, et al. Nat Med. 2023 Jul;29(7):1662-1670. doi: 10.1038/s41591-023-02397-2. Epub 2023 Jun 15. Nat Med. 2023. PMID: 37322115 Free PMC article.
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.
Trpchevska N, Freidin MB, Broer L, Oosterloo BC, Yao S, Zhou Y, Vona B, Bishop C, Bizaki-Vallaskangas A, Canlon B, Castellana F, Chasman DI, Cherny S, Christensen K, Concas MP, Correa A, Elkon R; Estonian Biobank Research Team; Mengel-From J, Gao Y, Giersch ABS, Girotto G, Gudjonsson A, Gudnason V, Heard-Costa NL, Hertzano R, Hjelmborg JVB, Hjerling-Leffler J, Hoffman HJ, Kaprio J, Kettunen J, Krebs K, Kähler AK, Lallemend F, Launer LJ, Lee IM, Leonard H, Li CM, Lowenheim H, Magnusson PKE, van Meurs J, Milani L, Morton CC, Mäkitie A, Nalls MA, Nardone GG, Nygaard M, Palviainen T, Pratt S, Quaranta N, Rämö J, Saarentaus E, Sardone R, Satizabal CL, Schweinfurth JM, Seshadri S, Shiroma E, Shulman E, Simonsick E, Spankovich C, Tropitzsch A, Lauschke VM, Sullivan PF, Goedegebure A, Cederroth CR, Williams FMK, Nagtegaal AP. Trpchevska N, et al. Am J Hum Genet. 2022 Jun 2;109(6):1077-1091. doi: 10.1016/j.ajhg.2022.04.010. Epub 2022 May 16. Am J Hum Genet. 2022. PMID: 35580588 Free PMC article.
Cerebral small vessel disease genomics and its implications across the lifespan.
Sargurupremraj M, Suzuki H, Jian X, Sarnowski C, Evans TE, Bis JC, Eiriksdottir G, Sakaue S, Terzikhan N, Habes M, Zhao W, Armstrong NJ, Hofer E, Yanek LR, Hagenaars SP, Kumar RB, van den Akker EB, McWhirter RE, Trompet S, Mishra A, Saba Y, Satizabal CL, Beaudet G, Petit L, Tsuchida A, Zago L, Schilling S, Sigurdsson S, Gottesman RF, Lewis CE, Aggarwal NT, Lopez OL, Smith JA, Valdés Hernández MC, van der Grond J, Wright MJ, Knol MJ, Dörr M, Thomson RJ, Bordes C, Le Grand Q, Duperron MG, Smith AV, Knopman DS, Schreiner PJ, Evans DA, Rotter JI, Beiser AS, Maniega SM, Beekman M, Trollor J, Stott DJ, Vernooij MW, Wittfeld K, Niessen WJ, Soumaré A, Boerwinkle E, Sidney S, Turner ST, Davies G, Thalamuthu A, Völker U, van Buchem MA, Bryan RN, Dupuis J, Bastin ME, Ames D, Teumer A, Amouyel P, Kwok JB, Bülow R, Deary IJ, Schofield PR, Brodaty H, Jiang J, Tabara Y, Setoh K, Miyamoto S, Yoshida K, Nagata M, Kamatani Y, Matsuda F, Psaty BM, Bennett DA, De Jager PL, Mosley TH, Sachdev PS, Schmidt R, Warren HR, Evangelou E, Trégouët DA; International Network against Thrombosis (INVENT) Consortium; International Headache Genomics Consortium (IHGC); Ikram MA, Wen W, DeCarli C, Srikanth VK, Jukema… See abstract for full author list ➔ Sargurupremraj M, et al. Nat Commun. 2020 Dec 8;11(1):6285. doi: 10.1038/s41467-020-19111-2. Nat Commun. 2020. PMID: 33293549 Free PMC article.
Identification of circulating proteins associated with general cognitive function among middle-aged and older adults.
Tin A, Fohner AE, Yang Q, Brody JA, Davies G, Yao J, Liu D, Caro I, Lindbohm JV, Duggan MR, Meirelles O, Harris SE, Gudmundsdottir V, Taylor AM, Henry A, Beiser AS, Shojaie A, Coors A, Fitzpatrick AL, Langenberg C, Satizabal CL, Sitlani CM, Wheeler E, Tucker-Drob EM, Bressler J, Coresh J, Bis JC, Candia J, Jennings LL, Pietzner M, Lathrop M, Lopez OL, Redmond P, Gerszten RE, Rich SS, Heckbert SR, Austin TR, Hughes TM, Tanaka T, Emilsson V, Vasan RS, Guo X, Zhu Y, Tzourio C, Rotter JI, Walker KA, Ferrucci L, Kivimäki M, Breteler MMB, Cox SR, Debette S, Mosley TH, Gudnason VG, Launer LJ, Psaty BM, Seshadri S, Fornage M. Tin A, et al. Commun Biol. 2023 Nov 3;6(1):1117. doi: 10.1038/s42003-023-05454-1. Commun Biol. 2023. PMID: 37923804 Free PMC article.
Genetic associations with dementia-related proteinopathy: Application of item response theory.
Katsumata Y, Fardo DW, Shade LMP, Wu X, Karanth SD, Hohman TJ, Schneider JA, Bennett DA, Farfel JM, Gauthreaux K, Mock C, Kukull WA, Abner EL, Nelson PT; Alzheimer's Disease Neuroimaging Initiative; National Alzheimer's Coordinating Center. Katsumata Y, et al. Alzheimers Dement. 2024 Apr;20(4):2906-2921. doi: 10.1002/alz.13741. Epub 2024 Mar 9. Alzheimers Dement. 2024. PMID: 38460116 Free PMC article.
New insights into the genetic etiology of Alzheimer's disease and related dementias.
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M,… See abstract for full author list ➔ Bellenguez C, et al. Nat Genet. 2022 Apr;54(4):412-436. doi: 10.1038/s41588-022-01024-z. Epub 2022 Apr 4. Nat Genet. 2022. PMID: 35379992 Free PMC article.
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
Gustafson JA, Gibson SB, Damaraju N, Zalusky MP, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, Anderson Z, Storz SH, Ward SA, Sinha M, Gonzaga-Jauregui C, Clarke WE, Basile AO, Corvelo A, Reeves C, Helland A, Musunuri RL, Revsine M, Patterson KE, Paschal CR, Zakarian C, Goodwin S, Jensen TD, Robb E; 1000 Genomes ONT Sequencing Consortium; University of Washington Center for Rare Disease Research (UW-CRDR); Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; McCombie WR, Sedlazeck FJ, Zook JM, Montgomery SB, Garrison E, Kolmogorov M, Schatz MC, McLaughlin RN Jr, Dashnow H, Zody MC, Loose M, Jain M, Eichler EE, Miller DE. Gustafson JA, et al. medRxiv [Preprint]. 2024 Mar 7:2024.03.05.24303792. doi: 10.1101/2024.03.05.24303792. medRxiv. 2024. Update in: Genome Res. 2024 Oct 30. doi: 10.1101/gr.279273.124. PMID: 38496498 Free PMC article. Updated. Preprint.
DNA from multiple viral species is associated with Alzheimer's disease risk.
Tejeda M, Farrell J, Zhu C, Wetzler L, Lunetta KL, Bush WS, Martin ER, Wang LS, Schellenberg GD, Pericak-Vance MA, Haines JL, Farrer LA, Sherva R. Tejeda M, et al. Alzheimers Dement. 2024 Jan;20(1):253-265. doi: 10.1002/alz.13414. Epub 2023 Aug 14. Alzheimers Dement. 2024. PMID: 37578203 Free PMC article.
Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data.
Wang Y, Sarnowski C, Lin H, Pitsillides AN, Heard-Costa NL, Choi SH, Wang D, Bis JC, Blue EE; Alzheimer's Disease Neuroimaging Initiative (ADNI); Boerwinkle E, De Jager PL, Fornage M, Wijsman EM, Seshadri S, Dupuis J, Peloso GM, DeStefano AL; Alzheimer's Disease Sequencing Project (ADSP). Wang Y, et al. Alzheimers Dement. 2024 May;20(5):3290-3304. doi: 10.1002/alz.13705. Epub 2024 Mar 21. Alzheimers Dement. 2024. PMID: 38511601 Free PMC article.
61 results