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Page 1
Industrialization drives convergent microbial and physiological shifts in the human metaorganism.
Poyet M, Rühlemann M, Schaan AP, Ma Y, Moitinho-Silva L, Wacker EM, Jebens H, Patel L, Nguyen LTT, Zimmer A, Plichta D, McDonald D, Stevens C, Agyei A, Afihene MY, Asibey SO, Awuku YA, Badiane AS, Ching LS, Corzett C, Deme A, Dominguez-Rodrigo M, Duah A, Fezeu A, Froment A, Gibbons S, Girard C, Hooker J, Ibrahim F, Iqaluk D, Juimo V, Kettunen P, Lafosse S, Lango-Yaya E, Lehtimäki J, Lim YAL, Mabulla A, Mahachai V, Mohamed RS, Moniz K, Mwikarago IE, Nartey YA, Ndiaye D, Noel M, Onyekwere C, Pin TM, Plymoth A, Roberts L, Ruokolainen L, Rusine J, Segurel L, Shapiro BJ, Sigwazi S, Sistiaga A, Valles K, Vatanen T, Vilaichone RK, Rosenstiel P, Baines J, Franke A, Ellinghaus D, Knight R, Daly M, Xavier RJ, Alm EJ, Groussin M. Poyet M, et al. Among authors: daly m. bioRxiv [Preprint]. 2025 Oct 20:2025.10.20.683358. doi: 10.1101/2025.10.20.683358. bioRxiv. 2025. PMID: 41280098 Free PMC article. Preprint.
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.
Avila MN, Jung S, Satterstrom FK, Fu JM, Levy T, Sloofman LG, Klei L, Pichardo T, Stevens CR, Cusick CM, Ames JL, Campos GS, Cerros H, Chaskel R, Costa CIS, Cuccaro ML, Del Pilar Lopez A, Fernandez M, Ferro E, Galeano L, Girardi ACDES, Griswold AJ, Hernandez LC, Lourenço N, Ludena Y, Nuñez DL, Oyama R, Peña KP, Pessah I, Schmidt R, Sweeney HM, Tolentino L, Wang JYT, Albores-Gallo L, Croen LA, Cruz-Fuentes CS, Hertz-Picciotto I, Kolevzon A, Lattig MC, Mayo L, Passos-Bueno MR, Pericak-Vance MA, Siper PM, Tassone F, Trelles MP; Autism Sequencing Consortium; Talkowski ME, Daly MJ, Mahjani B, De Rubeis S, Cook EH, Roeder K, Betancur C, Devlin B, Buxbaum JD. Avila MN, et al. Among authors: daly mj. medRxiv [Preprint]. 2025 Jan 6:2024.12.27.24319460. doi: 10.1101/2024.12.27.24319460. medRxiv. 2025. PMID: 39830258 Free PMC article. Preprint.
Global multi-ancestry genetic study elucidates genes and biological pathways associated with thyroid cancer and benign thyroid diseases.
White SL, Brasher MS, Pattee J, Zhou W, Chapman S, Jee YH, Bell CC, Jamil TL, Barrio M, Hirbo J, Cox NJ, Straub P, Namba S, Bertucci-Richter E, Guare L, EdrisMohammed A, Morris S, Mulford AJ, Zhang H, Fennessy B, Tobin MD, Chen J, Williams AT, John C, van Heel DA, Mathur R, Finer S, Moksnes MR, Brumpton B, Åsvold BO, Peculis R, Rovite V, Konrade I, Wang Y, Crooks K, Chavan S, Fisher MJ, Rafaels N, Lin M, Shortt J, Sanders AR, Whiteman D, MacGregor S, Medland S, Thorsteinsdóttir U, Stefánsson K, Karaderi T, Egan KM, Bocklage T, McCrary HC, Riedlingeer G, Salhia B, Shriver C, Phan MD, Farlow JL, Edge S, Kaur V, Churchman M, Rounbehler RJ, Brock PL, Ringel MD, Pividori M, Schweppe R, Raeburn CD, Walters R, Chen Z, Li L, Matsuda K, Okada Y, Zoellner S, Verma A, Preuss M, Kenny E, Hendricks A, Fishbein L, Kraft P, Daly M, Neale B; biobank at the Colorado Center for Personalized Medicine; Genes & Health Research Team; BioBank Japan Project; Martin A, Cole JB, Haugen BR, Gignoux CR, Pozdeyev N. White SL, et al. Among authors: daly m. medRxiv [Preprint]. 2025 May 16:2025.05.15.25327513. doi: 10.1101/2025.05.15.25327513. medRxiv. 2025. Update in: Nat Genet. 2026 Feb;58(2):307-316. doi: 10.1038/s41588-025-02483-w. PMID: 40463558 Free PMC article. Updated. Preprint.
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.
Brünger T, Krey I, Kim S, Klöckner C, Myers SJ, Johannesen KM, Stefanski A, Taylor G, Perez-Palma E, Macnee M, Schorge S, Dahl RS, Yuan H, Perszyk RE, Kim S, Bajaj S, Helbig I, Pan JQ, Farrant M, Wollmuth L, Wyllie DJA, Kurganov E, Baez D, Zuberi S, Boßelmann CM, Lerche H, Mantegazza M, Cestèle S, May P, Ivaniuk A, Meskis MA, Hood V, Schust L, Goodspeed K, Kang JQ, Freed A, Gati C, Montanucci L, Wuster A, Trinidad M, Froelich S, Deng AT, Aledo-Serrano Á, Borovikov A, Sharkov A, Bouman A, Hajianpour MJ, Pal DK, Danvoye L, Lederer D, Balci TR, Hagebeuk EEO, Heidlebaugh A, Oetjens K, Hoffman TL, Striano P, Williams SD, van Engelen K, Howell KB, Khoury J, Benke TA, Strehlow V, Platzer K, Ramsey A, Manaster L, Malepati S, Fox P, Noebels J, Chung W, Poduri A, Stripe LL, Ruggiero SM, Cohen S, Smith L, Boesch S, Wilmarth O, Prentice AJ, Cha E, Budnik N, Hommersom MP, Kramer A, Vanoye CG, Zhang GQ, Nothnagel M, Palotie A, Daly MJ, George AL, Zarate YA, Brunklaus A, Traynelis SF, Møller RS, Lemke JR, Lal D. Brünger T, et al. Among authors: daly mj. medRxiv [Preprint]. 2026 Mar 6:2026.03.05.26347086. doi: 10.64898/2026.03.05.26347086. medRxiv. 2026. PMID: 41822692 Free PMC article. Preprint.
Risks of non-breast, non-ovarian cancers for BRCA1 and BRCA2 pathogenic variant carriers: a prospective cohort study.
Yang R, MacInnis RJ, Milne RL, Nguyen-Dumont T, Maxwell WF, Genkinger JM, Glendon G; Kathleen Cuningham Foundation Consortium for Research Into Familial Breast Cancer (kConFab); Ross EA, Andrulis IL, Colonna SV, Daly M, John EM, Kurian AW, Terry MB, Hopper JL, Southey MC, Phillips KA, Li S. Yang R, et al. Among authors: daly m. BMC Med. 2026 Mar 4. doi: 10.1186/s12916-026-04753-8. Online ahead of print. BMC Med. 2026. PMID: 41776557 Free article.
Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.
Reeve MP, Kanai M, Graham DB, Karjalainen J, Luo S, Kolosov N, Adams C, Ritari J, Karczewski KJ, Kiiskinen T, Jiang Y, Fuller Z, Mehtonen J, Kurki MI, Khan Z; FinnGen; Partanen J, McCarthy MI, Artomov M, Palotie A, Tuomi T, Pirinen M, Kero J, Xavier RJ, Daly MJ, Ripatti S. Reeve MP, et al. Among authors: daly mj. Nat Genet. 2026 Mar;58(3):550-559. doi: 10.1038/s41588-026-02521-1. Epub 2026 Feb 26. Nat Genet. 2026. PMID: 41748903
Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes.
Sato G, Yamamoto Y, Sonehara K, Saiki R, Ojima T, Kanai M, Liu A, Edahiro R, Shirai Y, Namba S, Namkoong H, Hasaegawa T, Koyanagi YN, Kasugai Y, Yamaji T, Nakano S, Genovese G, Sipilä TP, Ghazal A, Tanaka H, Azekawa S, Uwamino Y, Yamamoto K, Suzuki K, Hata T, Uemura M, Takeda Y, Kanai A, Higashiue S, Kobayashi S, Afuso H, Matsuura K, Mitsumoto Y, Fujita Y; FinnGen; Japan COVID-19 Task Force; Biobank Japan Project; Oda Y, Suzuki Y, Morisaki T, Ishii M, Kitagawa Y, Koike R, Kimura A, Imoto S, Miyano S, Kanai T, Takayama J, Iwasaki M, Sawada N, Fukunaga K, Matsuo K, Kumanogoh A, Doki Y, Eguchi H, Nakagome S, Tamiya G, Ganna A, Palotie A, Daly MJ, Wilson JF, Yamamoto M, Matsuda K, Ogawa S, Yamauchi T, Kadowaki T, Okada Y. Sato G, et al. Among authors: daly mj. Nat Med. 2026 Feb 23. doi: 10.1038/s41591-026-04213-z. Online ahead of print. Nat Med. 2026. PMID: 41731096
3,042 results