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Year Number of Results
2014 1
2015 3
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2017 17
2018 18
2019 14
2020 9
2021 9
2022 16
2023 7
2024 1

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Page 1
Imputation Accuracy Across Global Human Populations.
Cahoon JL, Rui X, Tang E, Simons C, Langie J, Chen M, Lo YC, Chiang CWK. Cahoon JL, et al. bioRxiv [Preprint]. 2023 Oct 26:2023.05.22.541241. doi: 10.1101/2023.05.22.541241. bioRxiv. 2023. PMID: 37292811 Free PMC article. Updated. Preprint.
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. 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.
Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics.
Partanen JJ, Häppölä P, Zhou W, Lehisto AA, Ainola M, Sutinen E, Allen RJ, Stockwell AD, Leavy OC, Oldham JM, Guillen-Guio B, Cox NJ, Hirbo JB, Schwartz DA, Fingerlin TE, Flores C, Noth I, Yaspan BL, Jenkins RG, Wain LV, Ripatti S, Pirinen M; International IPF Genetics Consortium; Global Biobank Meta-Analysis Initiative (GBMI); Laitinen T, Kaarteenaho R, Myllärniemi M, Daly MJ, Koskela JT. Partanen JJ, et al. Cell Genom. 2022 Oct 12;2(10):100181. doi: 10.1016/j.xgen.2022.100181. eCollection 2022 Oct 12. Cell Genom. 2022. PMID: 36777997 Free PMC article.
Identification of Reduced ERAP2 Expression and a Novel HLA Allele as Components of a Risk Score for Susceptibility to Liver Injury Due to Amoxicillin-Clavulanate.
Nicoletti P, Dellinger A, Li YJ, Barnhart HX, Chalasani N, Fontana RJ, Odin JA, Serrano J, Stolz A, Etheridge AS, Innocenti F, Govaere O, Grove JI, Stephens C, Aithal GP, Andrade RJ, Bjornsson ES, Daly AK, Lucena MI, Watkins PB; Drug-Induced Liver Injury Network (DILIN); International Drug-Induced Liver Injury Consortium (iDILIC); Prospective European Drug-Induced Liver Injury (Pro-Euro DILI) Investigators. Nicoletti P, et al. Gastroenterology. 2023 Mar;164(3):454-466. doi: 10.1053/j.gastro.2022.11.036. Epub 2022 Dec 7. Gastroenterology. 2023. PMID: 36496055 Free PMC article.
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies.
Li Z, Li X, Zhou H, Gaynor SM, Selvaraj MS, Arapoglou T, Quick C, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Auer PL, Bielak LF, Bis JC, Blackwell TW, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Conomos MP, Correa A, Cupples LA, Curran JE, de Vries PS, Duggirala R, Franceschini N, Freedman BI, Göring HHH, Guo X, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Lin BM, Manichaikul A, Manning AK, Martin LW, Mathias RA, Meigs JB, Mitchell BD, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Reupena MS, Rice KM, Rich SS, Smith JA, Taylor KD, Taub MA, Vasan RS, Weeks DE, Wilson JG, Yanek LR, Zhao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Rotter JI, Willer CJ, Natarajan P, Peloso GM, Lin X. Li Z, et al. Nat Methods. 2022 Dec;19(12):1599-1611. doi: 10.1038/s41592-022-01640-x. Epub 2022 Oct 27. Nat Methods. 2022. PMID: 36303018 Free PMC article.
Clinical features, outcomes, and HLA risk factors associated with nitrofurantoin-induced liver injury.
Chalasani N, Li YJ, Dellinger A, Navarro V, Bonkovsky H, Fontana RJ, Gu J, Barnhart H, Phillips E, Lammert C, Schwantes-An TH, Nicoletti P, Kleiner DE, Hoofnagle JH; Drug Induced Liver Injury Network. Chalasani N, et al. J Hepatol. 2023 Feb;78(2):293-300. doi: 10.1016/j.jhep.2022.09.010. Epub 2022 Sep 22. J Hepatol. 2023. PMID: 36152763 Free PMC article.
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL, Morrill VN, Choi SH, Jurgens SJ, Melloni G, Marston NA, Weng LC, Nauffal V, Hall AW, Gunn S, Austin-Tse CA, Pirruccello JP, Khurshid S, Rehm HL, Benjamin EJ, Boerwinkle E, Brody JA, Correa A, Fornwalt BK, Gupta N, Haggerty CM, Harris S, Heckbert SR, Hong CC, Kooperberg C, Lin HJ, Loos RJF, Mitchell BD, Morrison AC, Post W, Psaty BM, Redline S, Rice KM, Rich SS, Rotter JI, Schnatz PF, Soliman EZ, Sotoodehnia N, Wong EK; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Sabatine MS, Ruff CT, Lunetta KL, Ellinor PT, Lubitz SA. Halford JL, et al. Nat Commun. 2022 Aug 30;13(1):5106. doi: 10.1038/s41467-022-32009-5. Nat Commun. 2022. PMID: 36042188 Free PMC article.
88 results