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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.
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.
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).
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 .
Wuttke M, Li Y, Li M, Sieber KB, Feitosa MF, Gorski M, Tin A, Wang L, Chu AY, Hoppmann A, et al. A catalog of genetic loci associated with kidney function from analyses of a million individuals. Nat Genet. 2019 ;51(6):957-972.
Durda P, Raffield LM, Lange EM, Olson NC, Jenny NSwords, Cushman M, Deichgraeber P, Grarup N, Jonsson A, Hansen T, et al. Circulating Soluble CD163, Associations With Cardiovascular Outcomes and Mortality, and Identification of Genetic Variants in Older Individuals: The Cardiovascular Health Study. J Am Heart Assoc. 2022 ;11(21):e024374.
Tobias DK, Manning AK, Wessel J, Raghavan S, Westerman KE, Bick AG, DiCorpo D, Whitsel EA, Collins J, Correa A, et al. Clonal Hematopoiesis of Indeterminate Potential (CHIP) and Incident Type 2 Diabetes Risk. Diabetes Care. 2023 .
Pershad Y, Mack T, Poisner H, Jakubek YA, Stilp AM, Mitchell BD, Lewis JP, Boerwinkle E, Loos RJ, Chami N, et al. Determinants of mosaic chromosomal alteration fitness. medRxiv. 2023 .
Winkler TW, Rasheed H, Teumer A, Gorski M, Rowan BX, Stanzick KJ, Thomas LF, Tin A, Hoppmann A, Chu AY, et al. Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals. Commun Biol. 2022 ;5(1):580.
Yang Y, Sun Q, Huang L, Broome JG, Correa A, Reiner A, Raffield LM, Yang Y, Li Y. eSCAN: scan regulatory regions for aggregate association testing using whole-genome sequencing data. Brief Bioinform. 2022 ;23(1).
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.
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.
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.
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 .
Gorski M, Rasheed H, Teumer A, Thomas LF, Graham SE, Sveinbjornsson G, Winkler TW, Günther F, Stark KJ, Chai J-F, et al. Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies. Kidney Int. 2022 .
Downie CG, Highland HM, Lee MP, Raffield LM, Preuss M, Whitsel EA, Psaty BM, Sitlani CM, Graff M, Avery CL. Genome Wide Association Studies of Variant-by-Thiazide Interaction on Lipids Identifies a Novel Low-Density Lipoprotein Cholesterol Locus. Circ Res. 2022 ;131(3):277-279.
Do AN, Zhao W, Baldridge AS, Raffield LM, Wiggins KL, Shah SJ, Aslibekyan S, Tiwari HK, Limdi N, Zhi D, et al. Genome-wide meta-analysis of SNP and antihypertensive medication interactions on left ventricular traits in African Americans. Mol Genet Genomic Med. 2019 ;7(10):e00788.
Franceschini N, Giambartolomei C, de Vries PS, Finan C, Bis JC, Huntley RP, Lovering RC, Tajuddin SM, Winkler TW, Graff M, et al. GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes. Nat Commun. 2018 ;9(1):5141.
Sarnowski C, Leong A, Raffield LM, Wu P, de Vries PS, DiCorpo D, Guo X, Xu H, Liu Y, Zheng X, et al. Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program. Am J Hum Genet. 2019 ;105(4):706-718.
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.
Tajuddin SM, Schick UM, Eicher JD, Chami N, Giri A, Brody JA, W Hill D, Kacprowski T, Li J, Lyytikäinen L-P, et al. Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. Am J Hum Genet. 2016 ;99(1):22-39.
Gorski M, Jung B, Li Y, Matias-Garcia PR, Wuttke M, Coassin S, Thio CHL, Kleber ME, Winkler TW, Wanner V, et al. Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline. Kidney Int. 2020 .
Jakubek YA, Zhou Y, Stilp A, Bacon J, Wong JW, Ozcan Z, Arnett D, Barnes K, Bis JC, Boerwinkle E, et al. Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing. Nat Genet. 2023 ;55(11):1912-1919.

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