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Journal Article

Weinstock JS, Gopakumar J, Burugula BBharathi, Uddin MMesbah, Jahn N, Belk JA, Bouzid H, Daniel B, Miao Z, Ly N, et al. Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis. Nature. 2023 ;616(7958):755-763.

Wainschtein P, Jain D, Zheng Z, Cupples AL, Shadyab AH, McKnight B, Shoemaker BM, Mitchell BD, Psaty BM, Kooperberg C, et al. Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data. Nat Genet. 2022 ;54(3):263-273.

Zhang Y, Liu X, Wiggins KL, Kurniansyah N, Guo X, Rodrigue AL, Zhao W, Yanek LR, Ratliff SM, Pitsillides A, et al. Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts. Neurology. 2023 .

Clark DW, Okada Y, Moore KHS, Mason D, Pirastu N, Gandin I, Mattsson H, Barnes CLK, Lin K, Zhao JH, et al. Associations of autozygosity with a broad range of human phenotypes. Nat Commun. 2019 ;10(1):4957.

Georgakis MK, Malik R, Hasbani NR, Shakt G, Morrison AC, Tsao NL, Judy R, Mitchell BD, Xu H, Montasser ME, et al. Carriers of rare damaging genetic variants are at lower risk of atherosclerotic disease. medRxiv. 2023 .

Natarajan P, Pampana A, Graham SE, Ruotsalainen SE, Perry JA, de Vries PS, Broome JG, Pirruccello JP, Honigberg MC, Aragam K, et al. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 ;12(1):2182.

C Y Ng M, Graff M, Lu Y, Justice AE, Mudgal P, Liu C-T, Young K, Yanek LR, Feitosa MF, Wojczynski MK, et al. Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African ancestry anthropometry genetics consortium. PLoS Genet. 2017 ;13(4):e1006719.

Graff M, Justice AE, Young KL, Marouli E, Zhang X, Fine RS, Lim E, Buchanan V, Rand K, Feitosa MF, et al. Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. Am J Hum Genet. 2021 ;108(4):564-582.

Jian X, Satizabal CL, Smith AV, Wittfeld K, Bis JC, Smith JA, Hsu F-C, Nho K, Hofer E, Hagenaars SP, et al. Exome Chip Analysis Identifies Low-Frequency and Rare Variants in for White Matter Hyperintensities on Brain Magnetic Resonance Imaging. Stroke. 2018 .

Chami N, Chen M-H, Slater AJ, Eicher JD, Evangelou E, Tajuddin SM, Love-Gregory L, Kacprowski T, Schick UM, Nomura A, et al. Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. Am J Hum Genet. 2016 ;99(1):8-21.

Nyquist PA, Bilgel MS, Gottesman R, Yanek LR, Moy TF, Becker LC, Cuzzocreo J, Prince J, Yousem DM, Becker DM, et al. Extreme deep white matter hyperintensity volumes are associated with African American race. Cerebrovasc Dis. 2014 ;37(4):244-50.

Thibord F, Song C, Pattee J, Rodriguez BAT, Chen M-H, O'Donnell CJ, Kleber ME, Delgado GE, Guo X, Yao J, et al. FGL1 as a modulator of plasma D-dimer levels: Exome-wide marker analysis of plasma tPA, PAI-1, and D-dimer. J Thromb Haemost. 2021 .

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.

Fuentes Lde Las, Sung YJu, Noordam R, Winkler T, Feitosa MF, Schwander K, Bentley AR, Brown MR, Guo X, Manning A, et al. Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci. Mol Psychiatry. 2020 .

Fuentes Lde Las, Schwander KL, Brown MR, Bentley AR, Winkler TW, Sung YJu, Munroe PB, Miller CL, Aschard H, Aslibekyan S, et al. Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci. Front Genet. 2023 ;14:1235337.

Satizabal CL, Adams HHH, Hibar DP, White CC, Knol MJ, Stein JL, Scholz M, Sargurupremraj M, Jahanshad N, Roshchupkin GV, et al. Genetic architecture of subcortical brain structures in 38,851 individuals. Nat Genet. 2019 ;51(11):1624-1636.

Weinstock JS, Laurie CA, Broome JG, Taylor KD, Guo X, Shuldiner AR, O'Connell JR, Lewis JP, Boerwinkle E, Barnes KC, et al. The genetic determinants of recurrent somatic mutations in 43,693 blood genomes. Sci Adv. 2023 ;9(17):eabm4945.

Wassel CL, Lamina C, Nambi V, Coassin S, Mukamal KJ, Ganesh SK, Jacobs DR, Franceschini N, Papanicolaou GJ, Gibson Q, et al. Genetic determinants of the ankle-brachial index: a meta-analysis of a cardiovascular candidate gene 50K SNP panel in the candidate gene association resource (CARe) consortium. Atherosclerosis. 2012 ;222(1):138-47.

Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Melloni GEM, Kanoni S, et al. Genetic drivers of heterogeneity in type 2 diabetes pathophysiology. Nature. 2024 .

Hahn J, Fu Y-P, Brown MR, Bis JC, de Vries PS, Feitosa MF, Yanek LR, Weiss S, Giulianini F, Smith AVernon, et al. Genetic loci associated with prevalent and incident myocardial infarction and coronary heart disease in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. PLoS One. 2020 ;15(11):e0230035.

Ligthart S, Vaez A, Võsa U, Stathopoulou MG, de Vries PS, Prins BP, van der Most PJ, Tanaka T, Naderi E, Rose LM, et al. Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. Am J Hum Genet. 2018 ;103(5):691-706.

Liu C-T, Monda KL, Taylor KC, Lange L, Demerath EW, Palmas W, Wojczynski MK, Ellis JC, Vitolins MZ, Liu S, et al. Genome-wide association of body fat distribution in African ancestry populations suggests new loci. PLoS Genet. 2013 ;9(8):e1003681.

Huang J, Sabater-Lleal M, Asselbergs FW, Tregouet D, Shin S-Y, Ding J, Baumert J, Oudot-Mellakh T, Folkersen L, Johnson AD, et al. Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. Blood. 2012 ;120(24):4873-81.

Huang J, Huffman JE, Yamakuchi M, Yamkauchi M, Trompet S, Asselbergs FW, Sabater-Lleal M, Trégouët D-A, Chen W-M, Smith NL, et al. Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2. Arterioscler Thromb Vasc Biol. 2014 ;34(5):1093-101.

Vojinovic D, Adams HH, Jian X, Yang Q, Smith AVernon, Bis JC, Teumer A, Scholz M, Armstrong NJ, Hofer E, et al. Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume. Nat Commun. 2018 ;9(1):3945.

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