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The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes.
Huerta-Chagoya A, Schroeder P, Mandla R, Deutsch AJ, Zhu W, Petty L, Yi X, Cole JB, Udler MS, Dornbos P, Porneala B, DiCorpo D, Liu CT, Li JH, Szczerbiński L, Kaur V, Kim J, Lu Y, Martin A, Eizirik DL, Marchetti P, Marselli L, Chen L, Srinivasan S, Todd J, Flannick J, Gubitosi-Klug R, Levitsky L, Shah R, Kelsey M, Burke B, Dabelea DM, Divers J, Marcovina S, Stalbow L, Loos RJF, Darst BF, Kooperberg C, Raffield LM, Haiman C, Sun Q, McCormick JB, Fisher-Hoch SP, Ordoñez ML, Meigs J, Baier LJ, González-Villalpando C, González-Villalpando ME, Orozco L, García-García L, Moreno-Estrada A; Mexican Biobank; Aguilar-Salinas CA, Tusié T, Dupuis J, Ng MCY, Manning A, Highland HM, Cnop M, Hanson R, Below J, Florez JC, Leong A, Mercader JM. Huerta-Chagoya A, et al. Among authors: cole jb. Diabetologia. 2023 Jul;66(7):1273-1288. doi: 10.1007/s00125-023-05912-9. Epub 2023 May 6. Diabetologia. 2023. PMID: 37148359 Free PMC article.
Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis.
Udler MS, Kim J, von Grotthuss M, Bonàs-Guarch S, Cole JB, Chiou J; Christopher D. Anderson on behalf of METASTROKE and the ISGC; Boehnke M, Laakso M, Atzmon G, Glaser B, Mercader JM, Gaulton K, Flannick J, Getz G, Florez JC. Udler MS, et al. Among authors: cole jb. PLoS Med. 2018 Sep 21;15(9):e1002654. doi: 10.1371/journal.pmed.1002654. eCollection 2018 Sep. PLoS Med. 2018. PMID: 30240442 Free PMC article.
The effect of LRRK2 loss-of-function variants in humans.
Whiffin N, Armean IM, Kleinman A, Marshall JL, Minikel EV, Goodrich JK, Quaife NM, Cole JB, Wang Q, Karczewski KJ, Cummings BB, Francioli L, Laricchia K, Guan A, Alipanahi B, Morrison P, Baptista MAS, Merchant KM; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Ware JS, Havulinna AS, Iliadou B, Lee JJ, Nadkarni GN, Whiteman C; 23andMe Research Team; Daly M, Esko T, Hultman C, Loos RJF, Milani L, Palotie A, Pato C, Pato M, Saleheen D, Sullivan PF, Alföldi J, Cannon P, MacArthur DG. Whiffin N, et al. Among authors: cole jb. Nat Med. 2020 Jun;26(6):869-877. doi: 10.1038/s41591-020-0893-5. Epub 2020 May 27. Nat Med. 2020. PMID: 32461697 Free PMC article.
Integrating untargeted metabolomics, genetically informed causal inference, and pathway enrichment to define the obesity metabolome.
Hsu YH, Astley CM, Cole JB, Vedantam S, Mercader JM, Metspalu A, Fischer K, Fortney K, Morgen EK, Gonzalez C, Gonzalez ME, Esko T, Hirschhorn JN. Hsu YH, et al. Among authors: cole jb. Int J Obes (Lond). 2020 Jul;44(7):1596-1606. doi: 10.1038/s41366-020-0603-x. Epub 2020 May 28. Int J Obes (Lond). 2020. PMID: 32467615 Free PMC article.
Author Correction: The effect of LRRK2 loss-of-function variants in humans.
Whiffin N, Armean IM, Kleinman A, Marshall JL, Minikel EV, Goodrich JK, Quaife NM, Cole JB, Wang Q, Karczewski KJ, Cummings BB, Francioli L, Laricchia K, Guan A, Alipanahi B, Morrison P, Baptista MAS, Merchant KM; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Ware JS, Havulinna AS, Iliadou B, Lee JJ, Nadkarni GN, Whiteman C; 23andMe Research Team; Daly M, Esko T, Hultman C, Loos RJF, Milani L, Palotie A, Pato C, Pato M, Saleheen D, Sullivan PF, Alföldi J, Cannon P, MacArthur DG. Whiffin N, et al. Among authors: cole jb. Nat Med. 2021 Feb;27(2):355. doi: 10.1038/s41591-020-01185-6. Nat Med. 2021. PMID: 33483629 Free PMC article. No abstract available.
315 results