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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.
Liu X, Sun X, Zhang Y, Jiang W, Lai M, Wiggins KL, Raffield LM, Bielak LF, Zhao W, Pitsillides A, et al. Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk. J Am Heart Assoc. 2023 :e029090.
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 .
Dron JS, Patel AP, Zhang Y, Jurgens SJ, Maamari DJ, Wang M, Boerwinkle E, Morrison AC, de Vries PS, Fornage M, et al. Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease. JAMA Cardiol. 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.
Agha G, Mendelson MM, Ward-Caviness CK, Joehanes R, Huan T, Gondalia R, Salfati E, Brody JA, Fiorito G, Bressler J, et al. Blood Leukocyte DNA Methylation Predicts Risk of Future Myocardial Infarction and Coronary Heart Disease. Circulation. 2019 ;140(8):645-657.
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.
Yang Y, Knol MJ, Wang R, Mishra A, Liu D, Luciano M, Teumer A, Armstrong N, Bis JC, Jhun MA, et al. Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI. Brain. 2022 .
Joehanes R, Just AC, Marioni RE, Pilling LC, Reynolds LM, Mandaviya PR, Guan W, Xu T, Elks CE, Aslibekyan S, et al. Epigenetic Signatures of Cigarette Smoking. Circ Cardiovasc Genet. 2016 ;9(5):436-447.
Tin A, Schlosser P, Matias-Garcia PR, Thio CHL, Joehanes R, Liu H, Yu Z, Weihs A, Hoppmann A, Grundner-Culemann F, et al. Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus. Nat Commun. 2021 ;12(1):7173.
Zhang Y, Dron JS, Bellows BK, Khera AV, Liu J, Balte PP, Oelsner EC, Amr SSamir, Lebo MS, Nagy A, et al. Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol. JAMA Cardiol. 2024 .
Bick AG, Weinstock JS, Nandakumar SK, Fulco CP, Bao EL, Zekavat SM, Szeto MD, Liao X, Leventhal MJ, Nasser J, et al. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 ;586(7831):763-768.
Huan T, Nguyen S, Colicino E, Ochoa-Rosales C, W Hill D, Brody JA, Soerensen M, Zhang Y, Baldassari A, Elhadad MAhmed, et al. Integrative analysis of clinical and epigenetic biomarkers of mortality. Aging Cell. 2022 ;21(6):e13608.
Shadyab AH, Lamonte MJ, Kooperberg C, Reiner AP, Carty CL, Manini TM, Hou L, Di C, Macera CA, Gallo LC, et al. Leisure-time physical activity and leukocyte telomere length among older women. Exp Gerontol. 2017 ;95:141-147.
Schlosser P, Tin A, Matias-Garcia PR, Thio CHL, Joehanes R, Liu H, Weihs A, Yu Z, Hoppmann A, Grundner-Culemann F, et al. Meta-analyses identify DNA methylation associated with kidney function and damage. Nat Commun. 2021 ;12(1):7174.
Jang S-K, Evans L, Fialkowski A, Arnett DK, Ashley-Koch AE, Barnes KC, Becker DM, Bis JC, Blangero J, Bleecker ER, et al. Rare genetic variants explain missing heritability in smoking. Nat Hum Behav. 2022 .
Wang Y, Selvaraj MSunitha, Li X, Li Z, Holdcraft JA, Arnett DK, Bis JC, Blangero J, Boerwinkle E, Bowden DW, et al. Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study. medRxiv. 2023 .
Li X, Chen H, Selvaraj MSunitha, Van Buren E, Zhou H, Wang Y, Sun R, McCaw ZR, Yu Z, Arnett DK, et al. A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies. bioRxiv. 2023 .
Ma J, Rebholz CM, Braun KVE, Reynolds LM, Aslibekyan S, Xia R, Biligowda NG, Huan T, Liu C, Mendelson MM, et al. Whole Blood DNA Methylation Signatures of Diet Are Associated With Cardiovascular Disease Risk Factors and All-Cause Mortality. Circ Genom Precis Med. 2020 ;13(4):e002766.
Huffman JE, Nicolas J, Hahn J, Heath AS, Raffield LM, Yanek LR, Brody JA, Thibord F, Almasy L, Bartz TM, et al. Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles. medRxiv. 2023 .
Little A, Hu Y, Sun Q, Jain D, Broome J, Chen M-H, Thibord F, McHugh C, Surendran P, Blackwell TW, et al. Whole genome sequence analysis of platelet traits in the NHLBI trans-omics for precision medicine initiative. Hum Mol Genet. 2021 .
Zhang X, Brody JA, Graff M, Highland HM, Chami N, Xu H, Wang Z, Ferrier K, Chittoor G, Josyula NS, et al. WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE. medRxiv. 2023 .
Jiang M-Z, Gaynor SM, Li X, Van Buren E, Stilp A, Buth E, Wang FFei, Manansala R, Gogarten SM, Li Z, et al. Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium. bioRxiv. 2023 .
Pan Y, Sun X, Mi X, Huang Z, Hsu Y, Hixson JE, Munzy D, Metcalf G, Franceschini N, Tin A, et al. Whole-Exome Sequencing Study Identifies Four Novel Gene Loci Associated with Diabetic Kidney Disease. Hum Mol Genet. 2022 .
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.

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