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Filters: Keyword is Genetic Variation [Clear All Filters]

2022

Li Z, Li X, Zhou H, Gaynor SM, Selvaraj MSunitha, Arapoglou T, Quick C, Liu Y, Chen H, Sun R, et al. A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. Nat Methods. 2022 ;19(12):1599-1611.

Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M, Selvaraj MSunitha, Zhang D, Park J, Aguilar-Salinas CA, Antonacci-Fulton L, et al. Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Am J Hum Genet. 2022 ;109(1):81-96.

Wang Z, Choi SWan, Chami N, Boerwinkle E, Fornage M, Redline S, Bis JC, Brody JA, Psaty BM, Kim W, et al. The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations. Front Endocrinol (Lausanne). 2022 ;13:863893.

2021

Hu Y, Stilp AM, McHugh CP, Rao S, Jain D, Zheng X, Lane J, de Bellefon SMéric, Raffield LM, Chen M-H, et al. Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program. Am J Hum Genet. 2021 ;108(5):874-893.

2019

Cade BE, Chen H, Stilp AM, Louie T, Ancoli-Israel S, Arens R, Barfield R, Below JE, Cai J, Conomos MP, et al. Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep. PLoS Genet. 2019 ;15(4):e1007739.

2017

Richard MA, Huan T, Ligthart S, Gondalia R, Jhun MA, Brody JA, Irvin MR, Marioni R, Shen J, Tsai P-C, et al. DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation. Am J Hum Genet. 2017 ;101(6):888-902.

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.

Wheeler E, Leong A, Liu C-T, Hivert M-F, Strawbridge RJ, Podmore C, Li M, Yao J, Sim X, Hong J, et al. Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. PLoS Med. 2017 ;14(9):e1002383.

2015

Hansen JG, Gao W, Dupuis J, O'Connor GT, Tang W, Kowgier M, Sood A, Gharib SA, Palmer LJ, Fornage M, et al. Association of 25-Hydroxyvitamin D status and genetic variation in the vitamin D metabolic pathway with FEV1 in the Framingham Heart Study. Respir Res. 2015 ;16:81.

Rannikmae K, Davies G, Thomson PA, Bevan S, Devan WJ, Falcone GJ, Traylor M, Anderson CD, Battey TWK, Radmanesh F, et al. Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease. Neurology. 2015 ;84(9):918-26.

Laugsand LE, Ix JH, Bartz TM, Djoussé L, Kizer JR, Tracy RP, Dehghan A, Rexrode K, Lopez OL, Rimm EB, et al. Fetuin-A and risk of coronary heart disease: A Mendelian randomization analysis and a pooled analysis of AHSG genetic variants in 7 prospective studies. Atherosclerosis. 2015 ;243(1):44-52.

Sitlani CM, Rice KM, Lumley T, McKnight B, Cupples AL, Avery CL, Noordam R, Stricker BHC, Whitsel EA, Psaty BM. Generalized estimating equations for genome-wide association studies using longitudinal phenotype data. Stat Med. 2015 ;34(1):118-30.

Lemaitre RN, King IB, Kabagambe EK, H Y Wu J, McKnight B, Manichaikul A, Guan W, Sun Q, Chasman DI, Foy M, et al. Genetic loci associated with circulating levels of very long-chain saturated fatty acids. J Lipid Res. 2015 ;56(1):176-84.

Wessel J, Chu AY, Willems SM, Wang S, Yaghootkar H, Brody JA, Dauriz M, Hivert M-F, Raghavan S, Lipovich L, et al. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun. 2015 ;6:5897.

Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, et al. Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. JAMA Neurol. 2015 ;72(7):781-8.

Huffman JE, de Vries PS, Morrison AC, Sabater-Lleal M, Kacprowski T, Auer PL, Brody JA, Chasman DI, Chen M-H, Guo X, et al. Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. Blood. 2015 ;126(11):e19-29.

2014

London SJ, Gao W, Gharib SA, Hancock DB, Wilk JB, House JS, Gibbs RA, Muzny DM, Lumley T, Franceschini N, et al. ADAM19 and HTR4 variants and pulmonary function: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 ;7(3):350-8.

O'Seaghdha CM, Tin A, Yang Q, Katz R, Liu Y, Harris T, Astor B, Coresh J, Fox CS, Kao LWH, et al. Association of a cystatin C gene variant with cystatin C levels, CKD, and risk of incident cardiovascular disease and mortality. Am J Kidney Dis. 2014 ;63(1):16-22.

Cornes BK, Brody JA, Nikpoor N, Morrison AC, Chu H, Ahn BSoo, Wang S, Dauriz M, Barzilay JI, Dupuis J, et al. Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 ;7(3):374-382.

Peloso GM, Auer PL, Bis JC, Voorman A, Morrison AC, Stitziel NO, Brody JA, Khetarpal SA, Crosby JR, Fornage M, et al. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. Am J Hum Genet. 2014 ;94(2):223-32.

Ilkhanoff L, Arking DE, Lemaitre RN, Alonso A, Chen LY, Durda P, Hesselson SE, Kerr KF, Magnani JW, Marcus GM, et al. A common SCN5A variant is associated with PR interval and atrial fibrillation among African Americans. J Cardiovasc Electrophysiol. 2014 ;25(11):1150-7.

Lemaitre RN, Johnson CO, Hesselson S, Sotoodehnia N, Sotoodhenia N, McKnight B, Sitlani CM, Rea TD, King IB, Kwok P-Y, et al. Common variation in fatty acid metabolic genes and risk of incident sudden cardiac arrest. Heart Rhythm. 2014 ;11(3):471-7.

Cotlarciuc I, Malik R, Holliday EG, Ahmadi KR, Paré G, Psaty BM, Fornage M, Hasan N, Rinne PE, Ikram AM, et al. Effect of genetic variants associated with plasma homocysteine levels on stroke risk. Stroke. 2014 ;45(7):1920-4.

Chen CTL, Liu C-T, Chen GK, Andrews JS, Arnold AM, Dreyfus J, Franceschini N, Garcia ME, Kerr KF, Li G, et al. Meta-analysis of loci associated with age at natural menopause in African-American women. Hum Mol Genet. 2014 ;23(12):3327-42.

Kocarnik JM, Pendergrass SA, Carty CL, Pankow JS, Schumacher FR, Cheng I, Durda P, Ambite JLuis, Deelman E, Cook NR, et al. Multiancestral analysis of inflammation-related genetic variants and C-reactive protein in the population architecture using genomics and epidemiology study. Circ Cardiovasc Genet. 2014 ;7(2):178-88.

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