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A

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.

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.

Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Allen HLango, Lindgren CM, Luan J'an, Mägi R, et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet. 2010 ;42(11):937-48.

Peloso GM, Auer PL, Bis JC, Voorman A, Morrison AC, Stitziel NO, Brody JA, Khetarpal SA, Crosby JR, Fornage M, et al. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. Am J Hum Genet. 2014 ;94(2):223-32.

Clark DW, Okada Y, Moore KHS, Mason D, Pirastu N, Gandin I, Mattsson H, Barnes CLK, Lin K, Zhao JH, et al. Associations of autozygosity with a broad range of human phenotypes. Nat Commun. 2019 ;10(1):4957.

B

Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 2010 ;466(7307):707-13.

C

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.

Natarajan P, Pampana A, Graham SE, Ruotsalainen SE, Perry JA, de Vries PS, Broome JG, Pirruccello JP, Honigberg MC, Aragam K, et al. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 ;12(1):2182.

Wang TJ, Zhang F, J Richards B, Kestenbaum B, van Meurs JB, Berry D, Kiel DP, Streeten EA, Ohlsson C, Koller DL, et al. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet. 2010 ;376(9736):180-8.

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.

Thibord F, Klarin D, Brody JA, Chen M-H, Levin MG, Chasman DI, Goode EL, Hveem K, Teder-Laving M, Martinez-Perez A, et al. Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors. Circulation. 2022 ;146(16):1225-1242.

Böger CA, Chen M-H, Tin A, Olden M, Köttgen A, de Boer IH, Fuchsberger C, O'Seaghdha CM, Pattaro C, Teumer A, et al. CUBN is a gene locus for albuminuria. J Am Soc Nephrol. 2011 ;22(3):555-70.

D

Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, et al. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 ;12(1):3505.

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.

C Y Ng M, Graff M, Lu Y, Justice AE, Mudgal P, Liu C-T, Young K, Yanek LR, Feitosa MF, Wojczynski MK, et al. Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African ancestry anthropometry genetics consortium. PLoS Genet. 2017 ;13(4):e1006719.

Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, Buchkovich ML, Mora S, et al. Discovery and refinement of loci associated with lipid levels. Nat Genet. 2013 ;45(11):1274-1283.

Karasik D, Zillikens CM, Hsu Y-H, Aghdassi A, Åkesson K, Amin N, Barroso I, Bennett DA, Bertram L, Bochud M, et al. Disentangling the genetics of lean mass. Am J Clin Nutr. 2019 ;109(2):276-287.

E

Sung YJu, Winkler TW, Manning AK, Aschard H, Gudnason V, Harris TB, Smith AV, Boerwinkle E, Brown MR, Morrison AC, et al. An Empirical Comparison of Joint and Stratified Frameworks for Studying G × E Interactions: Systolic Blood Pressure and Smoking in the CHARGE Gene-Lifestyle Interactions Working Group. Genet Epidemiol. 2016 ;40(5):404-15.

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.

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.

Liu DJ, Peloso GM, Yu H, Butterworth AS, Wang X, Mahajan A, Saleheen D, Emdin C, Alam D, Alves ACouto, et al. Exome-wide association study of plasma lipids in >300,000 individuals. Nat Genet. 2017 ;49(12):1758-1766.

F

Qi Q, Kilpeläinen TO, Downer MK, Tanaka T, Smith CE, Sluijs I, Sonestedt E, Chu AY, Renstrom F, Lin X, et al. FTO genetic variants, dietary intake and body mass index: insights from 177,330 individuals. Hum Mol Genet. 2014 ;23(25):6961-72.

Yang J, Loos RJF, Powell JE, Medland SE, Speliotes EK, Chasman DI, Rose LM, Thorleifsson G, Steinthorsdottir V, Mägi R, et al. FTO genotype is associated with phenotypic variability of body mass index. Nature. 2012 ;490(7419):267-72.

G

Nettleton JA, Follis JL, Ngwa JS, Smith CE, Ahmad S, Tanaka T, Wojczynski MK, Voortman T, Lemaitre RN, Kristiansson K, et al. Gene × dietary pattern interactions in obesity: analysis of up to 68 317 adults of European ancestry. Hum Mol Genet. 2015 ;24(16):4728-38.

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