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Page 1
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE. Hadano S, et al. Among authors: okada y. Nat Genet. 2001 Oct;29(2):166-73. doi: 10.1038/ng1001-166. Nat Genet. 2001. PMID: 11586298
Genetic diversity fuels gene discovery for tobacco and alcohol use.
Saunders GRB, Wang X, Chen F, Jang SK, Liu M, Wang C, Gao S, Jiang Y, Khunsriraksakul C, Otto JM, Addison C, Akiyama M, Albert CM, Aliev F, Alonso A, Arnett DK, Ashley-Koch AE, Ashrani AA, Barnes KC, Barr RG, Bartz TM, Becker DM, Bielak LF, Benjamin EJ, Bis JC, Bjornsdottir G, Blangero J, Bleecker ER, Boardman JD, Boerwinkle E, Boomsma DI, Boorgula MP, Bowden DW, Brody JA, Cade BE, Chasman DI, Chavan S, Chen YI, Chen Z, Cheng I, Cho MH, Choquet H, Cole JW, Cornelis MC, Cucca F, Curran JE, de Andrade M, Dick DM, Docherty AR, Duggirala R, Eaton CB, Ehringer MA, Esko T, Faul JD, Fernandes Silva L, Fiorillo E, Fornage M, Freedman BI, Gabrielsen ME, Garrett ME, Gharib SA, Gieger C, Gillespie N, Glahn DC, Gordon SD, Gu CC, Gu D, Gudbjartsson DF, Guo X, Haessler J, Hall ME, Haller T, Harris KM, He J, Herd P, Hewitt JK, Hickie I, Hidalgo B, Hokanson JE, Hopfer C, Hottenga J, Hou L, Huang H, Hung YJ, Hunter DJ, Hveem K, Hwang SJ, Hwu CM, Iacono W, Irvin MR, Jee YH, Johnson EO, Joo YY, Jorgenson E, Justice AE, Kamatani Y, Kaplan RC, Kaprio J, Kardia SLR, Keller MC, Kelly TN, Kooperberg C, Korhonen T, Kraft P, Krauter K, Kuusisto J, Laakso M, Lasky-Su J, Lee WJ, Lee JJ, Levy D, Li L, Li K, L… See abstract for full author list ➔ Saunders GRB, et al. Among authors: okada y. Nature. 2022 Dec;612(7941):720-724. doi: 10.1038/s41586-022-05477-4. Epub 2022 Dec 7. Nature. 2022. PMID: 36477530 Free PMC article.
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 Free PMC article.
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
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.
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.
Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Melloni GEM, Kanoni S, Rayner NW, Bocher O, Arruda AL, Sonehara K, Namba S, Lee SSK, Preuss MH, Petty LE, Schroeder P, Vanderwerff B, Kals M, Bragg F, Lin K, Guo X, Zhang W, Yao J, Kim YJ, Graff M, Takeuchi F, Nano J, Lamri A, Nakatochi M, Moon S, Scott RA, Cook JP, Lee JJ, Pan I, Taliun D, Parra EJ, Chai JF, Bielak LF, Tabara Y, Hai Y, Thorleifsson G, Grarup N, Sofer T, Wuttke M, Sarnowski C, Gieger C, Nousome D, Trompet S, Kwak SH, Long J, Sun M, Tong L, Chen WM, Nongmaithem SS, Noordam R, Lim VJY, Tam CHT, Joo YY, Chen CH, Raffield LM, Prins BP, Nicolas A, Yanek LR, Chen G, Brody JA, Kabagambe E, An P, Xiang AH, Choi HS, Cade BE, Tan J, Broadaway KA, Williamson A, Kamali Z, Cui J, Thangam M, Adair LS, Adeyemo A, Aguilar-Salinas CA, Ahluwalia TS, Anand SS, Bertoni A, Bork-Jensen J, Brandslund I, Buchanan TA, Burant CF, Butterworth AS, Canouil M, Chan JCN, Chang LC, Chee ML, Chen J, Chen SH, Chen YT, Chen Z, Chuang LM, Cushman M, Danesh J, Das SK, de Silva HJ, Dedoussis G, Dimitrov L, Doumatey AP, Du S, Duan Q, Eckardt KU, Emery LS, Evans DS, Evans MK, Fischer K, Floyd JS, Ford I, Franc… See abstract for full author list ➔ Suzuki K, et al. Among authors: okada y. Nature. 2024 Mar;627(8003):347-357. doi: 10.1038/s41586-024-07019-6. Epub 2024 Feb 19. Nature. 2024. PMID: 38374256 Free PMC article.
Inconsistent embryo selection across polygenic score methods.
Namba S, Akiyama M, Hamanoue H, Kato K, Kawashima M, Kushima I, Matsuda K, Nakatochi M, Ogishima S, Sonehara K, Suzuki K, Takata A, Tamiya G, Tanikawa C, Yamamoto K, Yamamoto N; BioBank Japan Project; Ozaki N, Okada Y. Namba S, et al. Among authors: okada y. Nat Hum Behav. 2024 Oct 14. doi: 10.1038/s41562-024-02019-y. Online ahead of print. Nat Hum Behav. 2024. PMID: 39402258 No abstract available.
7,215 results