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Journal Article

Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M, Selvaraj MSunitha, Zhang D, Park J, Aguilar-Salinas CA, Antonacci-Fulton L, et al. Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Am J Hum Genet. 2022 ;109(1):81-96.

Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet. 2017 ;49(9):1373-1384.

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 .

Wang Z, Chen H, Bartz TM, Bielak LF, Chasman DI, Feitosa MF, Franceschini N, Guo X, Lim E, Noordam R, et al. Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels. Circ Genom Precis Med. 2020 ;13(4):e002772.

Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAGagliano, Corvelo A, Gogarten SM, Kang HMin, et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021 ;590(7845):290-299.

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.

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.

Liang J, Le TH, Edwards DRVelez, Tayo BO, Gaulton KJ, Smith JA, Lu Y, Jensen RA, Chen G, Yanek LR, et al. Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. PLoS Genet. 2017 ;13(5):e1006728.

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 .

Mishra A, Malik R, Hachiya T, Jürgenson T, Namba S, Posner DC, Kamanu FK, Koido M, Le Grand Q, Shi M, et al. Stroke genetics informs drug discovery and risk prediction across ancestries. Nature. 2022 .

Stilp AM, Emery LS, Broome JG, Buth EJ, Khan AT, Laurie CA, Wang FFei, Wong Q, Chen D, D'Augustine CM, et al. A System for Phenotype Harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program. Am J Epidemiol. 2021 .

Fernandez-Rhodes L, Gong J, Haessler J, Franceschini N, Graff M, Nishimura KK, Wang Y, Highland HM, Yoneyama S, Bush WS, et al. Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci. Hum Genet. 2017 ;136(6):771-800.

Liu C-T, Raghavan S, Maruthur N, Kabagambe EKato, Hong J, C Y Ng M, Hivert M-F, Lu Y, An P, Bentley AR, et al. Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin. Am J Hum Genet. 2016 ;99(1):56-75.

Chibnik LB, Wolters FJ, Bäckman K, Beiser A, Berr C, Bis JC, Boerwinkle E, Bos D, Brayne C, Dartigues J-F, et al. Trends in the incidence of dementia: design and methods in the Alzheimer Cohorts Consortium. Eur J Epidemiol. 2017 ;32(10):931-938.

Hasbani NR, Westerman KE, Kwak SHeon, Chen H, Li X, DiCorpo D, Wessel J, Bis JC, Sarnowski C, Wu P, et al. Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis. Circ Genom Precis Med. 2023 :e004176.

Wang Z, Choi SWan, Chami N, Boerwinkle E, Fornage M, Redline S, Bis JC, Brody JA, Psaty BM, Kim W, et al. The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations. Front Endocrinol (Lausanne). 2022 ;13:863893.

Hofer E, Cavalieri M, Bis JC, DeCarli C, Fornage M, Sigurdsson S, Srikanth V, Trompet S, Verhaaren BFJ, Wolf C, et al. White Matter Lesion Progression: Genome-Wide Search for Genetic Influences. Stroke. 2015 ;46(11):3048-57.

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.

Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, et al. Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol Psychiatry. 2018 .

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 .

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.

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