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Journal Article

Brody JA, Morrison AC, Bis JC, O'Connell JR, Brown MR, Huffman JE, Ames DC, Carroll A, Conomos MP, Gabriel S, et al. Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology. Nat Genet. 2017 ;49(11):1560-1563.

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.

Liu C-T, Estrada K, Yerges-Armstrong LM, Amin N, Evangelou E, Li G, Minster RL, Carless MA, Kammerer CM, Oei L, et al. Assessment of gene-by-sex interaction effect on bone mineral density. J Bone Miner Res. 2012 ;27(10):2051-64.

Murabito JM, White CC, Kavousi M, Sun YV, Feitosa MF, Nambi V, Lamina C, Schillert A, Coassin S, Bis JC, et al. Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies. Circ Cardiovasc Genet. 2012 ;5(1):100-12.

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 .

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.

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.

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.

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.

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.

Pershad Y, Mack T, Poisner H, Jakubek YA, Stilp AM, Mitchell BD, Lewis JP, Boerwinkle E, Loos RJ, Chami N, et al. Determinants of mosaic chromosomal alteration fitness. medRxiv. 2023 .

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.

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.

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.

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.

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.

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.

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 .

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.

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.

Traylor M, Farrall M, Holliday EG, Sudlow C, Hopewell JC, Cheng Y-C, Fornage M, Ikram AM, Malik R, Bevan S, et al. Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies. Lancet Neurol. 2012 ;11(11):951-62.

Robinson-Cohen C, Lutsey PL, Kleber ME, Nielson CM, Mitchell BD, Bis JC, Eny KM, Portas L, Eriksson J, Lorentzon M, et al. Genetic Variants Associated with Circulating Parathyroid Hormone. J Am Soc Nephrol. 2016 .

Kilpeläinen TO, Zillikens CM, Stančáková A, Finucane FM, Ried JS, Langenberg C, Zhang W, Beckmann JS, Luan J'an, Vandenput L, et al. Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat Genet. 2011 ;43(8):753-60.

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.

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