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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.
Wang H, Cade BE, Sofer T, Sands SA, Chen H, Browning SR, Stilp AM, Louie TL, Thornton TA, W Johnson C, et al. Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans. Hum Mol Genet. 2019 ;28(4):675-687.
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.
Ellervik C, Roselli C, Christophersen IE, Alonso A, Pietzner M, Sitlani CM, Trompet S, Arking DE, Geelhoed B, Guo X, et al. Assessment of the Relationship Between Genetic Determinants of Thyroid Function and Atrial Fibrillation: A Mendelian Randomization Study. JAMA Cardiol. 2019 .
Sun X, Bulekova K, Yang J, Lai M, Pitsillides AN, Liu X, Zhang Y, Guo X, Yong Q, Raffield LM, et al. Association analysis of mitochondrial DNA heteroplasmic variants: methods and application. medRxiv. 2024 .
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.
Bressler J, Davies G, Smith AV, Saba Y, Bis JC, Jian X, Hayward C, Yanek L, Smith JA, Mirza SS, et al. Association of low-frequency and rare coding variants with information processing speed. Transl Psychiatry. 2021 ;11(1):613.
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 .
Liu X, Longchamps RJ, Wiggins KL, Raffield LM, Bielak LF, Zhao W, Pitsillides A, Blackwell TW, Yao J, Guo X, et al. Association of mitochondrial DNA copy number with cardiometabolic diseases. Cell Genom. 2021 ;1(1).
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 .