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Page 1
Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs.
Han SK, McNulty MT, Benway CJ, Wen P, Greenberg A, Onuchic-Whitford AC; Nephrotic Syndrome Study Network (NEPTUNE); Jang D, Flannick J, Burtt NP, Wilson PC, Humphreys BD, Wen X, Han Z, Lee D, Sampson MG. Han SK, et al. Among authors: flannick j. Nat Commun. 2023 Apr 19;14(1):2229. doi: 10.1038/s41467-023-37691-7. Nat Commun. 2023. PMID: 37076491 Free PMC article.
Insights from rare variants into the genetic architecture and biology of youth-onset type 2 diabetes.
Kwak SH, Srinivasan S, Chen L, Todd J, Mercader J, Jensen E, Divers J, Mottl A, Pihoker C, Gandica R, Laffel L, Isganaitis E, Haymond M, Levitsky L, Pollin T, Florez J, Flannick J. Kwak SH, et al. Among authors: flannick j. Res Sq [Preprint]. 2023 May 18:rs.3.rs-2886343. doi: 10.21203/rs.3.rs-2886343/v1. Res Sq. 2023. Update in: Nat Metab. 2024 Feb;6(2):226-237. doi: 10.1038/s42255-023-00970-0 PMID: 37292813 Free PMC article. Updated. Preprint.
Leveraging type 1 diabetes human genetic and genomic data in the T1D knowledge portal.
Kudtarkar P, Costanzo MC, Sun Y, Jang D, Koesterer R, Mychaleckyj JC, Nayak U, Onengut-Gumuscu S, Rich SS, Flannick JA, Gaulton KJ, Burtt NP. Kudtarkar P, et al. Among authors: flannick ja. PLoS Biol. 2023 Aug 10;21(8):e3002233. doi: 10.1371/journal.pbio.3002233. eCollection 2023 Aug. PLoS Biol. 2023. PMID: 37561710 Free PMC article.
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: flannick j. 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.
Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.
DeForest N, Kavitha B, Hu S, Isaac R, Krohn L, Wang M, Du X, De Arruda Saldanha C, Gylys J, Merli E, Abagyan R, Najmi L, Mohan V; Alnylam Human Genetics; AMP-T2D Consortium; Flannick J, Peloso GM, Gordts PLSM, Heinz S, Deaton AM, Khera AV, Olefsky J, Radha V, Majithia AR. DeForest N, et al. Among authors: flannick j. Cell Genom. 2023 May 30;3(7):100339. doi: 10.1016/j.xgen.2023.100339. eCollection 2023 Jul 12. Cell Genom. 2023. PMID: 37492105 Free PMC article.
Cardiovascular Disease Knowledge Portal: A Community Resource for Cardiovascular Disease Research.
Costanzo MC, Roselli C, Brandes M, Duby M, Hoang Q, Jang D, Koesterer R, Kudtarkar P, Moriondo A, Nguyen T, Ruebenacker O, Smadbeck P, Sun Y, Butterworth AS, Aragam KG, Lumbers RT, Khera AV, Lubitz SA, Ellinor PT, Gaulton KJ, Flannick J, Burtt NP. Costanzo MC, et al. Among authors: flannick j. Circ Genom Precis Med. 2023 Dec;16(6):e004181. doi: 10.1161/CIRCGEN.123.004181. Epub 2023 Oct 10. Circ Genom Precis Med. 2023. PMID: 37814896 Free PMC article. No abstract available.
Quantifying prion disease penetrance using large population control cohorts.
Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O'Donnell-Luria AH, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM; Exome Aggregation Consortium (ExAC); Daly MJ, MacArthur DG. Minikel EV, et al. Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169. Sci Transl Med. 2016. PMID: 26791950 Free PMC article.
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.
Aragam KG, Jiang T, Goel A, Kanoni S, Wolford BN, Atri DS, Weeks EM, Wang M, Hindy G, Zhou W, Grace C, Roselli C, Marston NA, Kamanu FK, Surakka I, Venegas LM, Sherliker P, Koyama S, Ishigaki K, Åsvold BO, Brown MR, Brumpton B, de Vries PS, Giannakopoulou O, Giardoglou P, Gudbjartsson DF, Güldener U, Haider SMI, Helgadottir A, Ibrahim M, Kastrati A, Kessler T, Kyriakou T, Konopka T, Li L, Ma L, Meitinger T, Mucha S, Munz M, Murgia F, Nielsen JB, Nöthen MM, Pang S, Reinberger T, Schnitzler G, Smedley D, Thorleifsson G, von Scheidt M, Ulirsch JC; Biobank Japan; EPIC-CVD; Arnar DO, Burtt NP, Costanzo MC, Flannick J, Ito K, Jang DK, Kamatani Y, Khera AV, Komuro I, Kullo IJ, Lotta LA, Nelson CP, Roberts R, Thorgeirsson G, Thorsteinsdottir U, Webb TR, Baras A, Björkegren JLM, Boerwinkle E, Dedoussis G, Holm H, Hveem K, Melander O, Morrison AC, Orho-Melander M, Rallidis LS, Ruusalepp A, Sabatine MS, Stefansson K, Zalloua P, Ellinor PT, Farrall M, Danesh J, Ruff CT, Finucane HK, Hopewell JC, Clarke R, Gupta RM, Erdmann J, Samani NJ, Schunkert H, Watkins H, Willer CJ, Deloukas P, Kathiresan S, Butterworth AS; CARDIoGRAMplusC4D Consortium. Aragam KG, et al. Among authors: flannick j. Nat Genet. 2022 Dec;54(12):1803-1815. doi: 10.1038/s41588-022-01233-6. Epub 2022 Dec 6. Nat Genet. 2022. PMID: 36474045 Free PMC article.
97 results