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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.

Lindström S, Germain M, Crous-Bou M, Smith EN, Morange P-E, Vlieg Avan Hylcka, de Haan HG, Chasman D, Ridker P, Brody J, et al. Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study. Hum Genet. 2017 ;136(7):897-902.

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.

Parsa A, Fuchsberger C, Köttgen A, O'Seaghdha CM, Pattaro C, de Andrade M, Chasman DI, Teumer A, Endlich K, Olden M, et al. Common variants in Mendelian kidney disease genes and their association with renal function. J Am Soc Nephrol. 2013 ;24(12):2105-17.

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.

Liu C-T, Garnaas MK, Tin A, Köttgen A, Franceschini N, Peralta CA, de Boer IH, Lu X, Atkinson E, Ding J, et al. Genetic association for renal traits among participants of African ancestry reveals new loci for renal function. PLoS Genet. 2011 ;7(9):e1002264.

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, 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.

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.

Tang W, Teichert M, Chasman DI, Heit JA, Morange P-E, Li G, Pankratz N, Leebeek FW, Paré G, de Andrade M, et al. A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. Genet Epidemiol. 2013 ;37(5):512-521.

Lindström S, Wang L, Smith EN, Gordon W, Vlieg Avan Hylcka, de Andrade M, Brody JA, Pattee JW, Haessler J, Brumpton BM, et al. Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. Blood. 2019 ;134(19):1645-1657.

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.

Germain M, Chasman DI, de Haan H, Tang W, Lindström S, Weng L-C, de Andrade M, de Visser MCH, Wiggins KL, Suchon P, et al. Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism. Am J Hum Genet. 2015 ;96(4):532-42.

Verhaaren BFJ, Debette S, Bis JC, Smith JA, M Ikram K, Adams HH, Beecham AH, Rajan KB, Lopez LM, Barral S, et al. Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI. Circ Cardiovasc Genet. 2015 ;8(2):398-409.

Köttgen A, Pattaro C, Böger CA, Fuchsberger C, Olden M, Glazer NL, Parsa A, Gao X, Yang Q, Smith AV, et al. New loci associated with kidney function and chronic kidney disease. Nat Genet. 2010 ;42(5):376-84.

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 .

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.

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 .

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.