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Einson J, Glinos D, Boerwinkle E, Castaldi P, Darbar D, de Andrade M, Ellinor P, Fornage M, Gabriel S, Germer S, et al. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. bioRxiv. 2023 .

Weinstock JS, Chaudhry SA, Ioannou M, Viskadourou M, Reventun P, Jakubek YA, L Liggett A, Laurie C, Broome JG, Khan A, et al. The Genetic Determinants and Genomic Consequences of Non-Leukemogenic Somatic Point Mutations. medRxiv. 2024 .

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.

Wassel CL, Lamina C, Nambi V, Coassin S, Mukamal KJ, Ganesh SK, Jacobs DR, Franceschini N, Papanicolaou GJ, Gibson Q, et al. Genetic determinants of the ankle-brachial index: a meta-analysis of a cardiovascular candidate gene 50K SNP panel in the candidate gene association resource (CARe) consortium. Atherosclerosis. 2012 ;222(1):138-47.

Ruth KS, Day FR, Hussain J, Martínez-Marchal A, Aiken CE, Azad A, Thompson DJ, Knoblochova L, Abe H, Tarry-Adkins JL, et al. Genetic insights into biological mechanisms governing human ovarian ageing. Nature. 2021 ;596(7872):393-397.

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 .

Hahn J, Fu Y-P, Brown MR, Bis JC, de Vries PS, Feitosa MF, Yanek LR, Weiss S, Giulianini F, Smith AVernon, et al. Genetic loci associated with prevalent and incident myocardial infarction and coronary heart disease in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. PLoS One. 2020 ;15(11):e0230035.

Sim X, Jensen RA, M Ikram K, Cotch MFrances, Li X, Macgregor S, Xie J, Smith AVernon, Boerwinkle E, Mitchell P, et al. Genetic loci for retinal arteriolar microcirculation. PLoS One. 2013 ;8(6):e65804.

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, et al. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nat Genet. 2019 ;51(3):414-430.

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.

Ehret GB, Munroe PB, Rice KM, Bochud M, Johnson AD, Chasman DI, Smith AV, Tobin MD, Verwoert GC, Hwang S-J, et al. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature. 2011 ;478(7367):103-9.

Blue EE, Bis JC, Dorschner MO, Tsuang DW, Barral SM, Beecham G, Below JE, Bush WS, Butkiewicz M, Cruchaga C, et al. Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. Dement Geriatr Cogn Disord. 2018 ;45(1-2):1-17.

Kao LWH, Arking DE, Post W, Rea TD, Sotoodehnia N, Prineas RJ, Bishe B, Doan BQ, Boerwinkle E, Psaty BM, et al. Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. Circulation. 2009 ;119(7):940-51.

Escott-Price V, Bellenguez C, San Wang L-, Choi S-H, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, et al. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. PLoS One. 2014 ;9(6):e94661.

Ligthart S, Vaez A, Võsa U, Stathopoulou MG, de Vries PS, Prins BP, van der Most PJ, Tanaka T, Naderi E, Rose LM, et al. Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. Am J Hum Genet. 2018 ;103(5):691-706.

Teumer A, Chaker L, Groeneweg S, Li Y, Di Munno C, Barbieri C, Schultheiss UT, Traglia M, Ahluwalia TS, Akiyama M, et al. Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. Nat Commun. 2018 ;9(1):4455.

Keaton JM, Kamali Z, Xie T, Vaez A, Williams A, Goleva SB, Ani A, Evangelou E, Hellwege JN, Yengo L, et al. Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits. Nat Genet. 2024 .

Köttgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, Pistis G, Ruggiero D, O'Seaghdha CM, Haller T, et al. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet. 2013 ;45(2):145-54.

Eijgelsheim M, Newton-Cheh C, Sotoodehnia N, de Bakker PIW, Müller M, Morrison AC, Smith AV, Isaacs A, Sanna S, Dörr M, et al. Genome-wide association analysis identifies multiple loci related to resting heart rate. Hum Mol Genet. 2010 ;19(19):3885-94.

Pattaro C, Köttgen A, Teumer A, Garnaas M, Böger CA, Fuchsberger C, Olden M, Chen M-H, Tin A, Taliun D, et al. Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS Genet. 2012 ;8(3):e1002584.

Fornage M, Debette S, Bis JC, Schmidt H, Ikram AM, Dufouil C, Sigurdsson S, Lumley T, DeStefano AL, Fazekas F, et al. Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium. Ann Neurol. 2011 ;69(6):928-39.

Debette S, Bis JC, Fornage M, Schmidt H, Ikram AM, Sigurdsson S, Heiss G, Struchalin M, Smith AV, van der Lugt A, et al. Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium. Stroke. 2010 ;41(2):210-7.

Meyer TE, Verwoert GC, Hwang S-J, Glazer NL, Smith AV, van Rooij FJA, Ehret GB, Boerwinkle E, Felix JF, Leak TS, et al. Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. PLoS Genet. 2010 ;6(8).

Ikram AM, Seshadri S, Bis JC, Fornage M, DeStefano AL, Aulchenko YS, Debette S, Lumley T, Folsom AR, van den Herik EG, et al. Genomewide association studies of stroke. N Engl J Med. 2009 ;360(17):1718-28.

Dehghan A, Bis JC, White CC, Smith AVernon, Morrison AC, Cupples AL, Trompet S, Chasman DI, Lumley T, Völker U, et al. Genome-Wide Association Study for Incident Myocardial Infarction and Coronary Heart Disease in Prospective Cohort Studies: The CHARGE Consortium. PLoS One. 2016 ;11(3):e0144997.

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