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Filters: Keyword is Genotype and Author is Boerwinkle, Eric [Clear All Filters]

2023

Zhang Y, Dron JS, Bellows BK, Khera AV, Liu J, Balte PP, Oelsner EC, Amr SSamir, Lebo MS, Nagy A, et al. Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease. Circulation. 2023 ;147(20):1556-1559.

2021

Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, et al. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 ;12(1):3505.

2019

Kilpeläinen TO, Bentley AR, Noordam R, Sung YJu, Schwander K, Winkler TW, Jakupović H, Chasman DI, Manning A, Ntalla I, et al. Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. Nat Commun. 2019 ;10(1):376.

2017

Liu DJ, Peloso GM, Yu H, Butterworth AS, Wang X, Mahajan A, Saleheen D, Emdin C, Alam D, Alves ACouto, et al. Exome-wide association study of plasma lipids in >300,000 individuals. Nat Genet. 2017 ;49(12):1758-1766.

Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet. 2017 ;49(9):1373-1384.

2016

Ried JS, M JJeff, Chu AY, Bragg-Gresham JL, van Dongen J, Huffman JE, Ahluwalia TS, Cadby G, Eklund N, Eriksson J, et al. A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape. Nat Commun. 2016 ;7:13357.

2015

Holliday EG, Traylor M, Malik R, Bevan S, Falcone G, Hopewell JC, Cheng Y-C, Cotlarciuc I, Bis JC, Boerwinkle E, et al. Genetic overlap between diagnostic subtypes of ischemic stroke. Stroke. 2015 ;46(3):615-9.

Debette S, Verbaas CAIbrahim, Bressler J, Schuur M, Smith A, Bis JC, Davies G, Wolf C, Gudnason V, Chibnik LB, et al. Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. Biol Psychiatry. 2015 ;77(8):749-63.

2014

Holmes MV, Dale CE, Zuccolo L, Silverwood RJ, Guo Y, Ye Z, Prieto-Merino D, Dehghan A, Trompet S, Wong A, et al. Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data. BMJ. 2014 ;349:g4164.

Crosby J, Peloso GM, Auer PL, Crosslin DR, Stitziel NO, Lange LA, Lu Y, Tang Z-Z, Zhang H, Hindy G, et al. Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med. 2014 ;371(1):22-31.

Ibrahim-Verbaas CA, Fornage M, Bis JC, Choi SHoan, Psaty BM, Meigs JB, Rao M, Nalls M, Fontes JD, O'Donnell CJ, et al. Predicting stroke through genetic risk functions: the CHARGE Risk Score Project. Stroke. 2014 ;45(2):403-12.

Keller MF, Reiner AP, Okada Y, van Rooij FJA, Johnson AD, Chen M-H, Smith AV, Morris AP, Tanaka T, Ferrucci L, et al. Trans-ethnic meta-analysis of white blood cell phenotypes. Hum Mol Genet. 2014 ;23(25):6944-60.

Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang Z-Z, Bizon C, Lange EM, Smith JD, Turner EH, et al. Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am J Hum Genet. 2014 ;94(2):233-45.

2013

Grove ML, Yu B, Cochran BJ, Haritunians T, Bis JC, Taylor KD, Hansen M, Borecki IB, Cupples AL, Fornage M, et al. Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium. PLoS One. 2013 ;8(7):e68095.

Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, Buchkovich ML, Mora S, et al. Discovery and refinement of loci associated with lipid levels. Nat Genet. 2013 ;45(11):1274-1283.

Gong J, Schumacher F, Lim U, Hindorff LA, Haessler J, Buyske S, Carlson CS, Rosse S, Bůzková P, Fornage M, et al. Fine Mapping and Identification of BMI Loci in African Americans. Am J Hum Genet. 2013 ;93(4):661-71.

Sim X, Jensen RA, M Ikram K, Cotch MFrances, Li X, Macgregor S, Xie J, Smith AVernon, Boerwinkle E, Mitchell P, et al. Genetic loci for retinal arteriolar microcirculation. PLoS One. 2013 ;8(6):e65804.

Jensen RA, Sim X, Li X, Cotch MFrances, M Ikram K, Holliday EG, Eiriksdottir G, Harris TB, Jonasson F, Klein BEK, et al. Genome-wide association study of retinopathy in individuals without diabetes. PLoS One. 2013 ;8(2):e54232.

Berndt SI, Gustafsson S, Mägi R, Ganna A, Wheeler E, Feitosa MF, Justice AE, Monda KL, Croteau-Chonka DC, Day FR, et al. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet. 2013 ;45(5):501-12.

Holliday EG, Smith AV, Cornes BK, Buitendijk GHS, Jensen RA, Sim X, Aspelund T, Aung T, Baird PN, Boerwinkle E, et al. Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. PLoS One. 2013 ;8(1):e53830.

Johnson AD, Hwang S-J, Voorman A, Morrison A, Peloso GM, Hsu Y-H, Thanassoulis G, Newton-Cheh C, Rogers IS, Hoffmann U, et al. Resequencing and clinical associations of the 9p21.3 region: a comprehensive investigation in the Framingham heart study. Circulation. 2013 ;127(7):799-810.

2012

Murabito JM, White CC, Kavousi M, Sun YV, Feitosa MF, Nambi V, Lamina C, Schillert A, Coassin S, Bis JC, et al. Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies. Circ Cardiovasc Genet. 2012 ;5(1):100-12.

Buyske S, Wu Y, Carty CL, Cheng I, Assimes TL, Dumitrescu L, Hindorff LA, Mitchell S, Ambite JLuis, Boerwinkle E, et al. Evaluation of the metabochip genotyping array in African Americans and implications for fine mapping of GWAS-identified loci: the PAGE study. PLoS One. 2012 ;7(4):e35651.

Chiang CWK, Liu C-T, Lettre G, Lange LA, Jorgensen NW, Keating BJ, Vedantam S, Nock NL, Franceschini N, Reiner AP, et al. Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms. Genetics. 2012 ;192(1):253-66.

2011

Kraja AT, Vaidya D, Pankow JS, Goodarzi MO, Assimes TL, Kullo IJ, Sovio U, Mathias RA, Sun YV, Franceschini N, et al. A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Diabetes. 2011 ;60(4):1329-39.

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