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Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny DM, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, San Wang L-, Lin C-F, Valladares O, Gabriel SB, DePristo M, Altshuler DM, Purcell SM, State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013 ;77(2):235-42.
Yu B, Pulit SL, Hwang S-J, Brody JA, Amin N, Auer PL, Bis JC, Boerwinkle E, Burke GL, Chakravarti A, Correa A, Dreisbach AW, Franco OH, Ehret GB, Franceschini N, Hofman A, Lin D-Y, Metcalf GA, Musani SK, Muzny DM, Palmas W, Raffel L, Reiner A, Rice K, Rotter JI, Veeraraghavan N, Fox E, Guo X, North KE, Gibbs RA, van Duijn CM, Psaty BM, Levy D, Newton-Cheh C, Morrison AC. Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circ Cardiovasc Genet. 2016 ;9(1):64-70.
Fiziev PP, McRae J, Ulirsch JC, Dron JS, Hamp T, Yang Y, Wainschtein P, Ni Z, Schraiber JG, Gao H, Cable D, Field Y, Aguet F, Fasnacht M, Metwally A, Rogers J, Marques-Bonet T, Rehm HL, O'Donnell-Luria A, Khera AV, Farh KKai-How. Rare penetrant mutations confer severe risk of common diseases. Science. 2023 ;380(6648):eabo1131.
Loomis SJ, Köttgen A, Li M, Tin A, Coresh J, Boerwinkle E, Gibbs RA, Muzny DM, Pankow J, Selvin E, Duggal P. Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study. Sci Rep. 2019 ;9(1):5941.
Kuang S-Q, Guo D-chuan, Prakash SK, McDonald M-LN, Johnson RJ, Wang M, Regalado ES, Russell L, Cao J-M, Kwartler C, Fraivillig K, Coselli JS, Safi HJ, Estrera AL, Leal SM, LeMaire SA, Belmont JW, Milewicz DM. Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet. 2011 ;7(6):e1002118.
Morrison AC, Boerwinkle E, Turner ST, Ferrell RE. Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10. Am J Hypertens. 2008 ;21(1):117-21.
D Hallman M, Srinivasan SR, Chen W, Boerwinkle E, Berenson GS. Relation of PCSK9 mutations to serum low-density lipoprotein cholesterol in childhood and adulthood (from The Bogalusa Heart Study). Am J Cardiol. 2007 ;100(1):69-72.
Yang X, Li J, Fang Y, Zhang Z, Jin D, Chen X, Zhao Y, Li M, Huan L, Kent TA, Dong J-fei, Jiang R, Yang S, Jin L, Zhang J, Zhong TP, Yu F. Rho Guanine Nucleotide Exchange Factor Is a Risk Gene for Intracranial Aneurysms. Circ Genom Precis Med. 2018 ;11(7):e002099.
Volcik KA, Catellier D, Folsom AR, Matijevic N, Wasserman B, Boerwinkle E. SELP and SELPLG genetic variation is associated with cell surface measures of SELP and SELPLG: the Atherosclerosis Risk in Communities Carotid MRI Study. Clin Chem. 2009 ;55(6):1076-82.
Wei Q, Doris PA, Pollizotto MV, Boerwinkle E, Jacobs DR, Siscovick DS, Fornage M. Sequence variation in the soluble epoxide hydrolase gene and subclinical coronary atherosclerosis: interaction with cigarette smoking. Atherosclerosis. 2007 ;190(1):26-34.
Yu B, Zheng Y, Nettleton JA, Alexander D, Coresh J, Boerwinkle E. Serum metabolomic profiling and incident CKD among African Americans. Clin J Am Soc Nephrol. 2014 ;9(8):1410-7.
Chen G-C, Chai JChoul, Yu B, Michelotti GA, Grove ML, Fretts AM, Daviglus ML, Garcia-Bedoya OL, Thyagarajan B, Schneiderman N, Cai J, Kaplan RC, Boerwinkle E, Qi Q. Serum sphingolipids and incident diabetes in a US population with high diabetes burden: the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Am J Clin Nutr. 2020 ;112(1):57-65.
Morrison AC, Bare LA, Luke MM, Pankow JS, Mosley TH, Devlin JJ, Willerson JT, Boerwinkle E. Single nucleotide polymorphisms associated with coronary heart disease predict incident ischemic stroke in the atherosclerosis risk in communities study. Cerebrovasc Dis. 2008 ;26(4):420-4.