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2025

Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett DK, Barnes K, et al. Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood. Am J Hum Genet. 2025 ;112(2):276-290.

Hu Y, Haessler J, Lundin JI, Darst BF, Whitsel EA, Grove M, Guan W, Xia R, Szeto M, Raffield LM, et al. Methylome-wide association analyses of lipids and modifying effects of behavioral factors in diverse race and ethnicity participants. Clin Epigenetics. 2025 ;17(1):54.

Georgakis MK, Malik R, Bounkari OEl, Hasbani NR, Li J, Huffman JE, Shakt G, Tack RWP, Kimball TN, Asare Y, et al. Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk. Genome Med. 2025 ;17(1):27.

Li X, Chen H, Selvaraj MSunitha, Van Buren E, Zhou H, Wang Y, Sun R, McCaw ZR, Yu Z, Jiang M-Z, et al. A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies. Nat Comput Sci. 2025 ;5(2):125-143.

2024

Hrytsenko Y, Shea B, Elgart M, Kurniansyah N, Lyons G, Morrison AC, Carson AP, Haring B, Mitchell BD, Psaty BM, et al. Machine learning models for predicting blood pressure phenotypes by combining multiple polygenic risk scores. Sci Rep. 2024 ;14(1):12436.

Rocheleau G, Clarke SL, Auguste G, Hasbani NR, Morrison AC, Heath AS, Bielak LF, Iyer KR, Young EP, Stitziel NO, et al. Rare variant contribution to the heritability of coronary artery disease. Nat Commun. 2024 ;15(1):8741.

2023

Kurniansyah N, Goodman MO, Khan AT, Wang J, Feofanova E, Bis JC, Wiggins KL, Huffman JE, Kelly T, Elfassy T, et al. Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups. Nat Commun. 2023 ;14(1):3202.

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.

2022

Halford JL, Morrill VN, Choi SHoan, Jurgens SJ, Melloni G, Marston NA, Weng L-C, Nauffal V, Hall AW, Gunn S, et al. Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes. Nat Commun. 2022 ;13(1):5106.

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.

DiCorpo D, Gaynor SM, Russell EM, Westerman KE, Raffield LM, Majarian TD, Wu P, Sarnowski C, Highland HM, Jackson A, et al. Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program. Commun Biol. 2022 ;5(1):756.

Wheeler MM, Stilp AM, Rao S, Halldorsson BV, Beyter D, Wen J, Mihkaylova AV, McHugh CP, Lane J, Jiang M-Z, et al. Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program. Nat Commun. 2022 ;13(1):7592.

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.

Mikhaylova AV, McHugh CP, Polfus LM, Raffield LM, Boorgula MPreethi, Blackwell TW, Brody JA, Broome J, Chami N, Chen M-H, et al. Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program. Am J Hum Genet. 2021 ;108(10):1836-1851.

2016

Cheng Y-C, Stanne TM, Giese A-K, Ho WKee, Traylor M, Amouyel P, Holliday EG, Malik R, Xu H, Kittner SJ, et al. Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2. Stroke. 2016 ;47(2):307-16.

2015

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.

Holliday EG, Traylor M, Malik R, Bevan S, Falcone G, Hopewell JC, Cheng Y-C, Cotlarciuc I, Bis JC, Boerwinkle E, et al. Genetic overlap between diagnostic subtypes of ischemic stroke. Stroke. 2015 ;46(3):615-9.

Carty CL, Keene KL, Cheng Y-C, Meschia JF, Chen W-M, Nalls M, Bis JC, Kittner SJ, Rich SS, Tajuddin S, et al. Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans. Stroke. 2015 ;46(8):2063-8.

Malik R, Freilinger T, Winsvold BS, Anttila V, Heiden JVander, Traylor M, de Vries B, Holliday EG, Terwindt GM, Sturm J, et al. Shared genetic basis for migraine and ischemic stroke: A genome-wide analysis of common variants. Neurology. 2015 ;84(21):2132-45.

2014

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.

Yoneyama S, Guo Y, Lanktree MB, Barnes MR, Elbers CC, Karczewski KJ, Padmanabhan S, Bauer F, Baumert J, Beitelshees A, et al. Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations. Hum Mol Genet. 2014 ;23(9):2498-510.

Kilarski LL, Achterberg S, Devan WJ, Traylor M, Malik R, Lindgren A, Pare G, Sharma P, Slowik A, Thijs V, et al. Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12. Neurology. 2014 ;83(8):678-85.

Malik R, Bevan S, Nalls MA, Holliday EG, Devan WJ, Cheng Y-C, Ibrahim-Verbaas CA, Verhaaren BFJ, Bis JC, Joon AY, et al. Multilocus genetic risk score associates with ischemic stroke in case-control and prospective cohort studies. Stroke. 2014 ;45(2):394-402.

Dichgans M, Malik R, König IR, Rosand J, Clarke R, Gretarsdottir S, Thorleifsson G, Mitchell BD, Assimes TL, Levi C, et al. Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. Stroke. 2014 ;45(1):24-36.

2013

Do R, Willer CJ, Schmidt EM, Sengupta S, Gao C, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, et al. Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet. 2013 ;45(11):1345-52.

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