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CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease.
Glessner JT, Li J, Desai A, Palmer M, Kim D, Lucas AM, Chang X, Connolly JJ, Almoguera B, Harley JB, Jarvik GP, Ritchie MD, Sleiman PMA, Roden DM, Crosslin D, Hakonarson H. Glessner JT, et al. Among authors: li j. Int J Cardiol. 2020 Jan 1;298:107-113. doi: 10.1016/j.ijcard.2019.07.058. Epub 2019 Jul 19. Int J Cardiol. 2020. PMID: 31447229
Target Genes of Autism Risk Loci in Brain Frontal Cortex.
Sun Y, Yao X, March ME, Meng X, Li J, Wei Z, Sleiman PMA, Hakonarson H, Xia Q, Li J. Sun Y, et al. Among authors: li j. Front Genet. 2019 Aug 9;10:707. doi: 10.3389/fgene.2019.00707. eCollection 2019. Front Genet. 2019. PMID: 31447881 Free PMC article.
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.
Li YR, Glessner JT, Coe BP, Li J, Mohebnasab M, Chang X, Connolly J, Kao C, Wei Z, Bradfield J, Kim C, Hou C, Khan M, Mentch F, Qiu H, Bakay M, Cardinale C, Lemma M, Abrams D, Bridglall-Jhingoor A, Behr M, Harrison S, Otieno G, Thomas A, Wang F, Chiavacci R, Wu L, Hadley D, Goldmuntz E, Elia J, Maris J, Grundmeier R, Devoto M, Keating B, March M, Pellagrino R, Grant SFA, Sleiman PMA, Li M, Eichler EE, Hakonarson H. Li YR, et al. Among authors: li j, li m. Nat Commun. 2020 Jan 14;11(1):255. doi: 10.1038/s41467-019-13624-1. Nat Commun. 2020. PMID: 31937769 Free PMC article.
Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity.
Yaghootkar H, Zhang Y, Spracklen CN, Karaderi T, Huang LO, Bradfield J, Schurmann C, Fine RS, Preuss MH, Kutalik Z, Wittemans LBL, Lu Y, Metz S, Willems SM, Li-Gao R, Grarup N, Wang S, Molnos S, Sandoval-Zárate AA, Nalls MA, Lange LA, Haesser J, Guo X, Lyytikäinen LP, Feitosa MF, Sitlani CM, Venturini C, Mahajan A, Kacprowski T, Wang CA, Chasman DI, Amin N, Broer L, Robertson N, Young KL, Allison M, Auer PL, Blüher M, Borja JB, Bork-Jensen J, Carrasquilla GD, Christofidou P, Demirkan A, Doege CA, Garcia ME, Graff M, Guo K, Hakonarson H, Hong J, Ida Chen YD, Jackson R, Jakupović H, Jousilahti P, Justice AE, Kähönen M, Kizer JR, Kriebel J, LeDuc CA, Li J, Lind L, Luan J, Mackey DA, Mangino M, Männistö S, Martin Carli JF, Medina-Gomez C, Mook-Kanamori DO, Morris AP, de Mutsert R, Nauck M, Prokic I, Pennell CE, Pradhan AD, Psaty BM, Raitakari OT, Scott RA, Skaaby T, Strauch K, Taylor KD, Teumer A, Uitterlinden AG, Wu Y, Yao J, Walker M, North KE, Kovacs P, Ikram MA, van Duijn CM, Ridker PM, Lye S, Homuth G, Ingelsson E, Spector TD, McKnight B, Province MA, Lehtimäki T, Adair LS, Rotter JI, Reiner AP, Wilson JG, Harris TB, Ripatti S, Grallert H, Meigs JB, Salomaa V, Hanse… See abstract for full author list ➔ Yaghootkar H, et al. Among authors: li gao r, li j. Diabetes. 2020 Dec;69(12):2806-2818. doi: 10.2337/db20-0070. Epub 2020 Sep 11. Diabetes. 2020. PMID: 32917775 Free PMC article.
Association of novel rare coding variants with juvenile idiopathic arthritis.
Meng X, Hou X, Wang P, Glessner JT, Qu HQ, March ME, Zhang S, Qi X, Zhu C, Nguyen K, Gao X, Li X, Liu Y, Zhou W, Zhang S, Li J, Sun Y, Yang J, Sleiman PMA, Xia Q, Hakonarson H, Li J. Meng X, et al. Among authors: li j, li x. Ann Rheum Dis. 2021 May;80(5):626-631. doi: 10.1136/annrheumdis-2020-218359. Epub 2021 Jan 6. Ann Rheum Dis. 2021. PMID: 33408077
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23.
Garnier S, Harakalova M, Weiss S, Mokry M, Regitz-Zagrosek V, Hengstenberg C, Cappola TP, Isnard R, Arbustini E, Cook SA, van Setten J, Calis JJA, Hakonarson H, Morley MP, Stark K, Prasad SK, Li J, O'Regan DP, Grasso M, Müller-Nurasyid M, Meitinger T, Empana JP, Strauch K, Waldenberger M, Marguiles KB, Seidman CE, Kararigas G, Meder B, Haas J, Boutouyrie P, Lacolley P, Jouven X, Erdmann J, Blankenberg S, Wichter T, Ruppert V, Tavazzi L, Dubourg O, Roizes G, Dorent R, de Groote P, Fauchier L, Trochu JN, Aupetit JF, Bilinska ZT, Germain M, Völker U, Hemerich D, Raji I, Bacq-Daian D, Proust C, Remior P, Gomez-Bueno M, Lehnert K, Maas R, Olaso R, Saripella GV, Felix SB, McGinn S, Duboscq-Bidot L, van Mil A, Besse C, Fontaine V, Blanché H, Ader F, Keating B, Curjol A, Boland A, Komajda M, Cambien F, Deleuze JF, Dörr M, Asselbergs FW, Villard E, Trégouët DA, Charron P. Garnier S, et al. Among authors: li j. Eur Heart J. 2021 May 21;42(20):2000-2011. doi: 10.1093/eurheartj/ehab030. Eur Heart J. 2021. PMID: 33677556 Free PMC article.
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