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Artificial intelligence for dementia genetics and omics.
Bettencourt C, Skene N, Bandres-Ciga S, Anderson E, Winchester LM, Foote IF, Schwartzentruber J, Botia JA, Nalls M, Singleton A, Schilder BM, Humphrey J, Marzi SJ, Toomey CE, Kleifat AA, Harshfield EL, Garfield V, Sandor C, Keat S, Tamburin S, Frigerio CS, Lourida I; Deep Dementia Phenotyping (DEMON) Network; Ranson JM, Llewellyn DJ. Bettencourt C, et al. Among authors: humphrey j. Alzheimers Dement. 2023 Dec;19(12):5905-5921. doi: 10.1002/alz.13427. Epub 2023 Aug 22. Alzheimers Dement. 2023. PMID: 37606627 Review.
Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies.
Lopes KP, Snijders GJL, Humphrey J, Allan A, Sneeboer MAM, Navarro E, Schilder BM, Vialle RA, Parks M, Missall R, van Zuiden W, Gigase FAJ, Kübler R, van Berlekom AB, Hicks EM, Bӧttcher C, Priller J, Kahn RS, de Witte LD, Raj T. Lopes KP, et al. Among authors: humphrey j. Nat Genet. 2022 Jan;54(1):4-17. doi: 10.1038/s41588-021-00976-y. Epub 2022 Jan 6. Nat Genet. 2022. PMID: 34992268 Free PMC article.
Dysregulation of mitochondrial and proteolysosomal genes in Parkinson's disease myeloid cells.
Navarro E, Udine E, de Paiva Lopes K, Parks M, Riboldi G, Schilder BM, Humphrey J, Snijders GJL, Vialle RA, Zhuang M, Sikder T, Argyrou C, Allan A, Chao MJ, Farrell K, Henderson B, Simon S, Raymond D, Elango S, Ortega RA, Shanker V, Swan M, Zhu CW, Ramdhani R, Walker RH, Tse W, Sano M, Pereira AC, Ahfeldt T, Goate AM, Bressman S, Crary JF, de Witte L, Frucht S, Saunders-Pullman R, Raj T. Navarro E, et al. Among authors: humphrey j. Nat Aging. 2021 Sep;1(9):850-863. doi: 10.1038/s43587-021-00110-x. Epub 2021 Sep 14. Nat Aging. 2021. PMID: 35005630 Free PMC article.
Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes.
Fodder K, Murthy M, Rizzu P, Toomey CE, Hasan R, Humphrey J, Raj T, Lunnon K, Mill J, Heutink P, Lashley T, Bettencourt C. Fodder K, et al. Among authors: humphrey j. Acta Neuropathol. 2023 Jul;146(1):77-95. doi: 10.1007/s00401-023-02583-z. Epub 2023 May 7. Acta Neuropathol. 2023. PMID: 37149835 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. Among authors: humphrey j. 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.
Genetics of the human microglia regulome refines Alzheimer's disease risk loci.
Kosoy R, Fullard JF, Zeng B, Bendl J, Dong P, Rahman S, Kleopoulos SP, Shao Z, Girdhar K, Humphrey J, de Paiva Lopes K, Charney AW, Kopell BH, Raj T, Bennett D, Kellner CP, Haroutunian V, Hoffman GE, Roussos P. Kosoy R, et al. Among authors: humphrey j. Nat Genet. 2022 Aug;54(8):1145-1154. doi: 10.1038/s41588-022-01149-1. Epub 2022 Aug 5. Nat Genet. 2022. PMID: 35931864 Free PMC article.
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus JM, Shi J, Heckman MG, Spiegel MR, Cook C, Song Y, Yue M, Daughrity LM, Carlomagno Y, Jansen-West K, de Castro CF, DeTure M, Koga S, Wang YC, Sivakumar P, Bodo C, Candalija A, Talbot K, Selvaraj BT, Burr K, Chandran S, Newcombe J, Lashley T, Hubbard I, Catalano D, Kim D, Propp N, Fennessey S; NYGC ALS Consortium; Fagegaltier D, Phatnani H, Secrier M, Fisher EM, Oskarsson B, van Blitterswijk M, Rademakers R, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Josephs KA, Thompson EA, Raj T, Ward M, Dickson DW, Gendron TF, Fratta P, Petrucelli L. Prudencio M, et al. Among authors: humphrey j. J Clin Invest. 2020 Nov 2;130(11):6080-6092. doi: 10.1172/JCI139741. J Clin Invest. 2020. PMID: 32790644 Free PMC article.
1,132 results