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Alzheimer's disease genetic risk score and neuroimaging in the FINGER lifestyle trial.
Saadmaan G, Dalmasso MC, Ramirez A, Hiltunen M, Kemppainen N, Lehtisalo J, Mangialasche F, Ngandu T, Rinne J, Soininen H, Stephen R, Kivipelto M, Solomon A. Saadmaan G, et al. Among authors: hiltunen m. Alzheimers Dement. 2024 Apr 22. doi: 10.1002/alz.13843. Online ahead of print. Alzheimers Dement. 2024. PMID: 38647197
DPYSL5 is highly expressed in treatment-induced neuroendocrine prostate cancer and promotes lineage plasticity via EZH2/PRC2.
Kaarijärvi R, Kaljunen H, Nappi L, Fazli L, Kung SHY, Hartikainen JM, Paakinaho V, Capra J, Rilla K, Malinen M, Mäkinen PI, Ylä-Herttuala S, Zoubeidi A, Wang Y, Gleave ME, Hiltunen M, Ketola K. Kaarijärvi R, et al. Among authors: hiltunen m. Commun Biol. 2024 Jan 18;7(1):108. doi: 10.1038/s42003-023-05741-x. Commun Biol. 2024. PMID: 38238517 Free PMC article.
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Nature. 2024 Feb;626(7997):E1. doi: 10.1038/s41586-024-07050-7. Nature. 2024. PMID: 38225470 No abstract available.
A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6. Nature. 2024. PMID: 38057664
Inferring compound heterozygosity from large-scale exome sequencing data.
Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S; gnomAD Project Consortium; Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, O'Donnell-Luria A, Karczewski KJ, MacArthur DG, Samocha KE. Guo MH, et al. Nat Genet. 2024 Jan;56(1):152-161. doi: 10.1038/s41588-023-01608-3. Epub 2023 Dec 6. Nat Genet. 2024. PMID: 38057443
Association of MGMT and BIN1 genes with Alzheimer's disease risk across sex and APOE ε4 status.
Le Borgne J; EADB, GR@ACE, Degesco, EADI, GERAD, DemGene; Amouyel P, Andreassen O, Frikke-Schmidt R, Hiltunen M, Ingelsson M, Ramirez A, Rossi G, Ruiz A, Sanchez-Juan P, Sims R, Sleegers K, Tsolaki M, van der Lee SJ, Williams J, Lambert JC, Bellenguez C. Le Borgne J, et al. Among authors: hiltunen m. Alzheimers Dement. 2024 Mar;20(3):2282-2284. doi: 10.1002/alz.13550. Epub 2023 Dec 2. Alzheimers Dement. 2024. PMID: 38041824 Free PMC article. No abstract available.
NTHL1 is a recessive cancer susceptibility gene.
Nurmi AK, Pelttari LM, Kiiski JI, Khan S, Nurmikolu M, Suvanto M, Aho N, Tasmuth T, Kalso E, Schleutker J, Kallioniemi A, Heikkilä P; FinnGen; Aittomäki K, Blomqvist C, Nevanlinna H. Nurmi AK, et al. Sci Rep. 2023 Nov 30;13(1):21127. doi: 10.1038/s41598-023-47441-w. Sci Rep. 2023. PMID: 38036545 Free PMC article.
389 results