Publications

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2024
Sun X, Bulekova K, Yang J, Lai M, Pitsillides AN, Liu X, Zhang Y, Guo X, Yong Q, Raffield LM, Rotter JI, Rich SS, Abecasis G, Carson AP, Vasan RS, Bis JC, Psaty BM, Boerwinkle E, Fitzpatrick AL, Satizabal CL, Arking DE, Ding J, Levy D, Liu C. Association analysis of mitochondrial DNA heteroplasmic variants: Methods and application. Mitochondrion. 2024 ;79:101954.
Sun X, Bulekova K, Yang J, Lai M, Pitsillides AN, Liu X, Zhang Y, Guo X, Yong Q, Raffield LM, Rotter JI, Rich SS, Abecasis G, Carson AP, Vasan RS, Bis JC, Psaty BM, Boerwinkle E, Fitzpatrick AL, Satizabal CL, Arking DE, Ding J, Levy D, Liu C. Association analysis of mitochondrial DNA heteroplasmic variants: methods and application. medRxiv. 2024 ;.
de Vries PS, Reventun P, Brown MR, Heath AS, Huffman JE, Le N-Q, Bebo A, Brody JA, Temprano-Sagrera G, Raffield LM, Ozel ABilge, Thibord F, Jain D, Lewis JP, Rodriguez BAT, Pankratz N, Taylor KD, Polasek O, Chen M-H, Yanek LR, Carrasquilla GD, Marioni RE, Kleber ME, Trégouët D-A, Yao J, Li-Gao R, Joshi PK, Trompet S, Martinez-Perez A, Ghanbari M, Howard TE, Reiner AP, Arvanitis M, Ryan KA, Bartz TM, Rudan I, Faraday N, Linneberg A, Ekunwe L, Davies G, Delgado GE, Suchon P, Guo X, Rosendaal FR, Klaric L, Noordam R, van Rooij F, Curran JE, Wheeler MM, Osburn WO, O'Connell JR, Boerwinkle E, Beswick A, Psaty BM, Kolcic I, Souto JCarlos, Becker LC, Hansen T, Doyle MF, Harris SE, Moissl AP, Deleuze J-F, Rich SS, Vlieg Avan Hylcka, Campbell H, Stott DJ, Soria JManuel, de Maat MPM, Almasy L, Brody LC, Auer PL, Mitchell BD, Ben-Shlomo Y, Fornage M, Hayward C, Mathias RA, Kilpeläinen TO, Lange LA, Cox SR, Marz W, Morange P-E, Rotter JI, Mook-Kanamori DO, Wilson JF, van der Harst P, J Jukema W, M Ikram A, Blangero J, Kooperberg C, Desch KC, Johnson AD, Sabater-Lleal M, Lowenstein CJ, Smith NL, Morrison AC. A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels. Blood. 2024 ;143(18):1845-1855.
Weinstock JS, Chaudhry SA, Ioannou M, Viskadourou M, Reventun P, Jakubek YA, L Liggett A, Laurie C, Broome JG, Khan A, Taylor KD, Guo X, Peyser PA, Boerwinkle E, Chami N, Kenny EE, Loos RJ, Psaty BM, Russell TP, Brody JA, Yun JH, Cho MH, Vasan RS, Kardia SL, Smith JA, Raffield LM, Bidulescu A, O'Brien E, de Andrade M, Rotter JI, Rich SS, Tracy RP, Chen YDer Ida, C Gu C, Hsiung CA, Kooperberg C, Haring B, Nassir R, Mathias R, Reiner A, Sankaran V, Lowenstein CJ, Blackwell TW, Abecasis GR, Smith AV, Kang HM, Natarajan P, Jaiswal S, Bick A, Post WS, Scheet P, Auer P, Karantanos T, Battle A, Arvanitis M. The Genetic Determinants and Genomic Consequences of Non-Leukemogenic Somatic Point Mutations. medRxiv. 2024 ;.
Keaton JM, Kamali Z, Xie T, Vaez A, Williams A, Goleva SB, Ani A, Evangelou E, Hellwege JN, Yengo L, Young WJ, Traylor M, Giri A, Zheng Z, Zeng J, Chasman DI, Morris AP, Caulfield MJ, Hwang S-J, Kooner JS, Conen D, Attia JR, Morrison AC, Loos RJF, Kristiansson K, Schmidt R, Hicks AA, Pramstaller PP, Nelson CP, Samani NJ, Risch L, Gyllensten U, Melander O, Riese H, Wilson JF, Campbell H, Rich SS, Psaty BM, Lu Y, Rotter JI, Guo X, Rice KM, Vollenweider P, Sundström J, Langenberg C, Tobin MD, Giedraitis V, Luan J'an, Tuomilehto J, Kutalik Z, Ripatti S, Salomaa V, Girotto G, Trompet S, J Jukema W, van der Harst P, Ridker PM, Giulianini F, Vitart V, Goel A, Watkins H, Harris SE, Deary IJ, van der Most PJ, Oldehinkel AJ, Keavney BD, Hayward C, Campbell A, Boehnke M, Scott LJ, Boutin T, Mamasoula C, Jarvelin M-R, Peters A, Gieger C, Lakatta EG, Cucca F, Hui J, Knekt P, Enroth S, de Borst MH, Polasek O, Concas MPina, Catamo E, Cocca M, Li-Gao R, Hofer E, Schmidt H, Spedicati B, Waldenberger M, Strachan DP, Laan M, Teumer A, Dörr M, Gudnason V, Cook JP, Ruggiero D, Kolcic I, Boerwinkle E, Traglia M, Lehtimäki T, Raitakari OT, Johnson AD, Newton-Cheh C, Brown MJ, Dominiczak AF, Sever PJ, Poulter N, Chambers JC, Elosua R, Siscovick D, Esko T, Metspalu A, Strawbridge RJ, Laakso M, Hamsten A, Hottenga J-J, de Geus E, Morris AD, Palmer CNA, Nolte IM, Milaneschi Y, Marten J, Wright A, Zeggini E, Howson JMM, O'Donnell CJ, Spector T, Nalls MA, Simonsick EM, Liu Y, van Duijn CM, Butterworth AS, Danesh JN, Menni C, Wareham NJ, Khaw K-T, Sun YV, Wilson PWF, Cho K, Visscher PM, Denny JC, Levy D, Edwards TL, Munroe PB, Snieder H, Warren HR. Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits. Nat Genet. 2024 ;56(5):778-791.
Rocheleau G, Clarke SL, Auguste G, Hasbani NR, Morrison AC, Heath AS, Bielak LF, Iyer KR, Young EP, Stitziel NO, Jun G, Laurie C, Broome JG, Khan AT, Arnett DK, Becker LC, Bis JC, Boerwinkle E, Bowden DW, Carson AP, Ellinor PT, Fornage M, Franceschini N, Freedman BI, Heard-Costa NL, Hou L, Chen Y-DIda, Kenny EE, Kooperberg C, Kral BG, Loos RJF, Lutz SM, Manson JAE, Martin LW, Mitchell BD, Nassir R, Palmer ND, Post WS, Preuss MH, Psaty BM, Raffield LM, Regan EA, Rich SS, Smith JA, Taylor KD, Yanek LR, Young KA, Hilliard AT, Tcheandjieu C, Peyser PA, Vasan RS, Rotter JI, Miller CL, Assimes TL, de Vries PS, Do R. Rare variant contribution to the heritability of coronary artery disease. Nat Commun. 2024 ;15(1):8741.
Jiang M-Z, Gaynor SM, Li X, Van Buren E, Stilp A, Buth E, Wang FFei, Manansala R, Gogarten SM, Li Z, Polfus LM, Salimi S, Bis JC, Pankratz N, Yanek LR, Durda P, Tracy RP, Rich SS, Rotter JI, Mitchell BD, Lewis JP, Psaty BM, Pratte KA, Silverman EK, Kaplan RC, Avery C, North KE, Mathias RA, Faraday N, Lin H, Wang B, Carson AP, Norwood AF, Gibbs RA, Kooperberg C, Lundin J, Peters U, Dupuis J, Hou L, Fornage M, Benjamin EJ, Reiner AP, Bowler RP, Lin X, Auer PL, Raffield LM. Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium. Hum Mol Genet. 2024 ;33(16):1429-1441.
2023
Weinstock JS, Gopakumar J, Burugula BBharathi, Uddin MMesbah, Jahn N, Belk JA, Bouzid H, Daniel B, Miao Z, Ly N, Mack TM, Luna SE, Prothro KP, Mitchell SR, Laurie CA, Broome JG, Taylor KD, Guo X, Sinner MF, von Falkenhausen AS, Kääb S, Shuldiner AR, O'Connell JR, Lewis JP, Boerwinkle E, Barnes KC, Chami N, Kenny EE, Loos RJF, Fornage M, Hou L, Lloyd-Jones DM, Redline S, Cade BE, Psaty BM, Bis JC, Brody JA, Silverman EK, Yun JH, Qiao D, Palmer ND, Freedman BI, Bowden DW, Cho MH, DeMeo DL, Vasan RS, Yanek LR, Becker LC, Kardia SLR, Peyser PA, He J, Rienstra M, van der Harst P, Kaplan R, Heckbert SR, Smith NL, Wiggins KL, Arnett DK, Irvin MR, Tiwari H, Cutler MJ, Knight S, J Muhlestein B, Correa A, Raffield LM, Gao Y, de Andrade M, Rotter JI, Rich SS, Tracy RP, Konkle BA, Johnsen JM, Wheeler MM, J Smith G, Melander O, Nilsson PM, Custer BS, Duggirala R, Curran JE, Blangero J, McGarvey S, L Williams K, Xiao S, Yang M, C Gu C, Chen Y-DIda, Lee W-J, Marcus GM, Kane JP, Pullinger CR, M Shoemaker B, Darbar D, Roden DM, Albert C, Kooperberg C, Zhou Y, Manson JAE, Desai P, Johnson AD, Mathias RA, Blackwell TW, Abecasis GR, Smith AV, Kang HM, Satpathy AT, Natarajan P, Kitzman JO, Whitsel EA, Reiner AP, Bick AG, Jaiswal S. Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis. Nature. 2023 ;616(7958):755-763.
Liu X, Sun X, Zhang Y, Jiang W, Lai M, Wiggins KL, Raffield LM, Bielak LF, Zhao W, Pitsillides A, Haessler J, Zheng Y, Blackwell TW, Yao J, Guo X, Qian Y, Thyagarajan B, Pankratz N, Rich SS, Taylor KD, Peyser PA, Heckbert SR, Seshadri S, Boerwinkle E, Grove ML, Larson NB, Smith JA, Vasan RS, Fitzpatrick AL, Fornage M, Ding J, Carson AP, Abecasis G, Dupuis J, Reiner A, Kooperberg C, Hou L, Psaty BM, Wilson JG, Levy D, Rotter JI, Bis JC, Satizabal CL, Arking DE, Liu C. Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk. J Am Heart Assoc. 2023 ;12(20):e029090.
Zhang Y, Liu X, Wiggins KL, Kurniansyah N, Guo X, Rodrigue AL, Zhao W, Yanek LR, Ratliff SM, Pitsillides A, Patiño JSebastian, Sofer T, Arking DE, Austin TR, Beiser AS, Blangero J, Boerwinkle E, Bressler J, Curran JE, Hou L, Hughes TM, Kardia SLR, Launer LJ, Levy D, Mosley TH, Nasrallah IM, Rich SS, Rotter JI, Seshadri S, Tarraf W, González KA, Ramachandran V, Yaffe K, Nyquist PA, Psaty BM, DeCarli CS, Smith JA, Glahn DC, Gonzalez HM, Bis JC, Fornage M, Heckbert SR, Fitzpatrick AL, Liu C, Satizabal CL. Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts. Neurology. 2023 ;100(18):e1930-e1943.
Dron JS, Patel AP, Zhang Y, Jurgens SJ, Maamari DJ, Wang M, Boerwinkle E, Morrison AC, de Vries PS, Fornage M, Hou L, Lloyd-Jones DM, Psaty BM, Tracy RP, Bis JC, Vasan RS, Levy D, Heard-Costa N, Rich SS, Guo X, Taylor KD, Gibbs RA, Rotter JI, Willer CJ, Oelsner EC, Moran AE, Peloso GM, Natarajan P, Khera AV. Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease. JAMA Cardiol. 2023 ;8(3):258-267.
Hong YSoo, Battle SL, Shi W, Puiu D, Pillalamarri V, Xie J, Pankratz N, Lake NJ, Lek M, Rotter JI, Rich SS, Kooperberg C, Reiner AP, Auer PL, Heard-Costa N, Liu C, Lai M, Murabito JM, Levy D, Grove ML, Alonso A, Gibbs RA, Dugan-Perez S, Gondek LP, Guallar E, Arking DE. Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality. Nat Commun. 2023 ;14(1):6113.
Fuentes Lde Las, Schwander KL, Brown MR, Bentley AR, Winkler TW, Sung YJu, Munroe PB, Miller CL, Aschard H, Aslibekyan S, Bartz TM, Bielak LF, Chai JFang, Cheng C-Y, Dorajoo R, Feitosa MF, Guo X, Hartwig FP, Horimoto A, Kolcic I, Lim E, Liu Y, Manning AK, Marten J, Musani SK, Noordam R, Padmanabhan S, Rankinen T, Richard MA, Ridker PM, Smith AV, Vojinovic D, Zonderman AB, Alver M, Boissel M, Christensen K, Freedman BI, Gao C, Giulianini F, Harris SE, He M, Hsu F-C, Kühnel B, Laguzzi F, Li X, Lyytikäinen L-P, Nolte IM, Poveda A, Rauramaa R, Riaz M, Robino A, Sofer T, Takeuchi F, Tayo BO, van der Most PJ, Verweij N, Ware EB, Weiss S, Wen W, Yanek LR, Zhan Y, Amin N, Arking DE, Ballantyne C, Boerwinkle E, Brody JA, Broeckel U, Campbell A, Canouil M, Chai X, Chen Y-DIda, Chen X, Chitrala KNaidu, Concas MPina, de Faire U, de Mutsert R, H de Silva J, de Vries PS, Do A, Faul JD, Fisher V, Floyd JS, Forrester T, Friedlander Y, Girotto G, C Gu C, Hallmans G, Heikkinen S, Heng C-K, Homuth G, Hunt S, M Ikram A, Jacobs DR, Kavousi M, Khor CChuen, Kilpeläinen TO, Koh W-P, Komulainen P, Langefeld CD, Liang J, Liu K, Liu J, Lohman K, Mägi R, Manichaikul AW, McKenzie CA, Meitinger T, Milaneschi Y, Nauck M, Nelson CP, O'Connell JR, Palmer ND, Pereira AC, Perls T, Peters A, Polasek O, Raitakari OT, Rice K, Rice TK, Rich SS, Sabanayagam C, Schreiner PJ, Shu X-O, Sidney S, Sims M, Smith JA, Starr JM, Strauch K, E Tai S, Taylor KD, Tsai MY, Uitterlinden AG, van Heemst D, Waldenberger M, Wang Y-X, Bin Wei W-, Wilson G, Xuan D, Yao J, Yu C, Yuan J-M, Zhao W, Becker DM, Bonnefond A, Bowden DW, Cooper RS, Deary IJ, Divers J, Esko T, Franks PW, Froguel P, Gieger C, Jonas JB, Kato N, Lakka TA, Leander K, Lehtimäki T, Magnusson PKE, North KE, Ntalla I, Penninx B, Samani NJ, Snieder H, Spedicati B, van der Harst P, Völzke H, Wagenknecht LE, Weir DR, Wojczynski MK, Wu T, Zheng W, Zhu X, Bouchard C, Chasman DI, Evans MK, Fox ER, Gudnason V, Hayward C, Horta BL, Kardia SLR, Krieger JEduardo, Mook-Kanamori DO, Peyser PA, Province MM, Psaty BM, Rudan I, Sim X, Smith BH, van Dam RM, van Duijn CM, Wong TYin, Arnett DK, Rao DC, Gauderman J, Liu C-T, Morrison AC, Rotter JI, Fornage M. Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci. Front Genet. 2023 ;14:1235337.
Einson J, Glinos D, Boerwinkle E, Castaldi P, Darbar D, de Andrade M, Ellinor P, Fornage M, Gabriel S, Germer S, Gibbs RA, Hersh CP, Johnsen J, Kaplan R, Konkle BA, Kooperberg C, Nassir R, Loos RJF, Meyers DA, Mitchell BD, Psaty B, Vasan RS, Rich SS, Rienstra M, Rotter JI, Saferali A, M Shoemaker B, Silverman E, Smith AVernon, Mohammadi P, Castel SE, Iossifov I, Lappalainen T. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. bioRxiv. 2023 ;.
Einson J, Glinos D, Boerwinkle E, Castaldi P, Darbar D, de Andrade M, Ellinor P, Fornage M, Gabriel S, Germer S, Gibbs RA, Hersh CP, Johnsen J, Kaplan R, Konkle BA, Kooperberg C, Nassir R, Loos RJF, Meyers DA, Mitchell BD, Psaty B, Vasan RS, Rich SS, Rienstra M, Rotter JI, Saferali A, Shoemaker MBenjamin, Silverman E, Smith AVernon, Mohammadi P, Castel SE, Iossifov I, Lappalainen T. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. Genetics. 2023 ;224(4).
Weinstock JS, Laurie CA, Broome JG, Taylor KD, Guo X, Shuldiner AR, O'Connell JR, Lewis JP, Boerwinkle E, Barnes KC, Chami N, Kenny EE, Loos RJF, Fornage M, Redline S, Cade BE, Gilliland FD, Chen Z, W Gauderman J, Kumar R, Grammer L, Schleimer RP, Psaty BM, Bis JC, Brody JA, Silverman EK, Yun JH, Qiao D, Weiss ST, Lasky-Su J, DeMeo DL, Palmer ND, Freedman BI, Bowden DW, Cho MH, Vasan RS, Johnson AD, Yanek LR, Becker LC, Kardia S, He J, Kaplan R, Heckbert SR, Smith NL, Wiggins KL, Arnett DK, Irvin MR, Tiwari H, Correa A, Raffield LM, Gao Y, de Andrade M, Rotter JI, Rich SS, Manichaikul AW, Konkle BA, Johnsen JM, Wheeler MM, Custer BS, Duggirala R, Curran JE, Blangero J, Gui H, Xiao S, L Williams K, Meyers DA, Li X, Ortega V, McGarvey S, C Gu C, Chen Y-DIda, Lee W-J, M Shoemaker B, Darbar D, Roden D, Albert C, Kooperberg C, Desai P, Blackwell TW, Abecasis GR, Smith AV, Kang HM, Mathias R, Natarajan P, Jaiswal S, Reiner AP, Bick AG. The genetic determinants of recurrent somatic mutations in 43,693 blood genomes. Sci Adv. 2023 ;9(17):eabm4945.
Westerman KE, Walker ME, Gaynor SM, Wessel J, DiCorpo D, Ma J, Alonso A, Aslibekyan S, Baldridge AS, Bertoni AG, Biggs ML, Brody JA, Chen Y-DIda, Dupuis J, Goodarzi MO, Guo X, Hasbani NR, Heath A, Hidalgo B, Irvin MR, W Johnson C, Kalyani RR, Lange L, Lemaitre RN, Liu C-T, Liu S, Moon J-Y, Nassir R, Pankow JS, Pettinger M, Raffield LM, Rasmussen-Torvik LJ, Selvin E, Senn MK, Shadyab AH, Smith AV, Smith NL, Steffen L, Talegakwar S, Taylor KD, de Vries PS, Wilson JG, Wood AC, Yanek LR, Yao J, Zheng Y, Boerwinkle E, Morrison AC, Fornage M, Russell TP, Psaty BM, Levy D, Heard-Costa NL, Ramachandran VS, Mathias RA, Arnett DK, Kaplan R, North KE, Correa A, Carson A, Rotter JI, Rich SS, Manson JAE, Reiner AP, Kooperberg C, Florez JC, Meigs JB, Merino J, Tobias DK, Chen H, Manning AK. Investigating Gene-Diet Interactions Impacting the Association Between Macronutrient Intake and Glycemic Traits. Diabetes. 2023 ;72(5):653-665.
Li X, Quick C, Zhou H, Gaynor SM, Liu Y, Chen H, Selvaraj MSunitha, Sun R, Dey R, Arnett DK, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Correa A, L Cupples A, Curran JE, de Vries PS, Duggirala R, Freedman BI, Göring HHH, Guo X, Haessler J, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Manichaikul A, Martin LW, McGarvey ST, Mitchell BD, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Reupena M'aSefuiva, Rice KM, Rich SS, Sitlani CM, Smith JA, Taylor KD, Vasan RS, Willer CJ, Wilson JG, Yanek LR, Zhao W, Rotter JI, Natarajan P, Peloso GM, Li Z, Lin X. Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies. Nat Genet. 2023 ;55(1):154-164.
Wang Y, Selvaraj MSunitha, Li X, Li Z, Holdcraft JA, Arnett DK, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Cade BE, Carlson JC, Carson AP, Chen Y-DIda, Curran JE, de Vries PS, Dutcher SK, Ellinor PT, Floyd JS, Fornage M, Freedman BI, Gabriel S, Germer S, Gibbs RA, Guo X, He J, Heard-Costa N, Hildalgo B, Hou L, Irvin MR, Joehanes R, Kaplan RC, Kardia SLr, Kelly TN, Kim R, Kooperberg C, Kral BG, Levy D, Li C, Liu C, Lloyd-Jone D, Loos RJf, Mahaney MC, Martin LW, Mathias RA, Minster RL, Mitchell BD, Montasser ME, Morrison AC, Murabito JM, Naseri T, O'Connell JR, Palmer ND, Preuss MH, Psaty BM, Raffield LM, Rao DC, Redline S, Reiner AP, Rich SS, Ruepena M'aSefuiva, Sheu WH-H, Smith JA, Smith A, Tiwari HK, Tsai MY, Viaud-Martinez KA, Wang Z, Yanek LR, Zhao W, Rotter JI, Lin X, Natarajan P, Peloso GM. Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study. Am J Hum Genet. 2023 ;110(10):1704-1717.
Wang Y, Selvaraj MSunitha, Li X, Li Z, Holdcraft JA, Arnett DK, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Cade BE, Carlson JC, Carson AP, Chen Y-DIda, Curran JE, de Vries PS, Dutcher SK, Ellinor PT, Floyd JS, Fornage M, Freedman BI, Gabriel S, Germer S, Gibbs RA, Guo X, He J, Heard-Costa N, Hildalgo B, Hou L, Irvin MR, Joehanes R, Kaplan RC, Kardia SLr, Kelly TN, Kim R, Kooperberg C, Kral BG, Levy D, Li C, Liu C, Lloyd-Jone D, Loos RJf, Mahaney MC, Martin LW, Mathias RA, Minster RL, Mitchell BD, Montasser ME, Morrison AC, Murabito JM, Naseri T, O'Connell JR, Palmer ND, Preuss MH, Psaty BM, Raffield LM, Rao DC, Redline S, Reiner AP, Rich SS, Ruepena M'aSefuiva, Sheu WH-H, Smith JA, Smith A, Tiwari HK, Tsai MY, Viaud-Martinez KA, Wang Z, Yanek LR, Zhao W, Rotter JI, Lin X, Natarajan P, Peloso GM. Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study. medRxiv. 2023 ;.
Li X, Chen H, Selvaraj MSunitha, Van Buren E, Zhou H, Wang Y, Sun R, McCaw ZR, Yu Z, Arnett DK, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Carson AP, Carlson JC, Chami N, Chen Y-DIda, Curran JE, de Vries PS, Fornage M, Franceschini N, Freedman BI, Gu C, Heard-Costa NL, He J, Hou L, Hung Y-J, Irvin MR, Kaplan RC, Kardia SLR, Kelly T, Konigsberg I, Kooperberg C, Kral BG, Li C, Loos RJF, Mahaney MC, Martin LW, Mathias RA, Minster RL, Mitchell BD, Montasser ME, Morrison AC, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Rich SS, Sitlani CM, Smith JA, Taylor KD, Tiwari H, Vasan RS, Wang Z, Yanek LR, Yu B, Rice KM, Rotter JI, Peloso GM, Natarajan P, Li Z, Liu Z, Lin X. A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies. bioRxiv. 2023 ;.
Hasbani NR, Westerman KE, Kwak SHeon, Chen H, Li X, Di Corpo D, Wessel J, Bis JC, Sarnowski C, Wu P, Bielak LF, Guo X, Heard-Costa N, Kinney GL, Mahaney MC, Montasser ME, Palmer ND, Raffield LM, Terry JG, Yanek LR, Bon J, Bowden DW, Brody JA, Duggirala R, Jacobs DR, Kalyani RR, Lange LA, Mitchell BD, Smith JA, Taylor KD, Carson AP, Curran JE, Fornage M, Freedman BI, Gabriel S, Gibbs RA, Gupta N, Kardia SLR, Kral BG, Momin Z, Newman AB, Post WS, Viaud-Martinez KA, Young KA, Becker LC, Bertoni AG, Blangero J, Carr JJ, Pratte K, Psaty BM, Rich SS, Wu JC, Malhotra R, Peyser PA, Morrison AC, Vasan RS, Lin X, Rotter JI, Meigs JB, Manning AK, de Vries PS. Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis. Circ Genom Precis Med. 2023 ;16(6):e004176.
Jiang M-Z, Gaynor SM, Li X, Van Buren E, Stilp A, Buth E, Wang FFei, Manansala R, Gogarten SM, Li Z, Polfus LM, Salimi S, Bis JC, Pankratz N, Yanek LR, Durda P, Tracy RP, Rich SS, Rotter JI, Mitchell BD, Lewis JP, Psaty BM, Pratte KA, Silverman EK, Kaplan RC, Avery C, North K, Mathias RA, Faraday N, Lin H, Wang B, Carson AP, Norwood AF, Gibbs RA, Kooperberg C, Lundin J, Peters U, Dupuis J, Hou L, Fornage M, Benjamin EJ, Reiner AP, Bowler RP, Lin X, Auer PL, Raffield LM. Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium. bioRxiv. 2023 ;.
de Vries PS, Conomos MP, Singh K, Nicholson CJ, Jain D, Hasbani NR, Jiang W, Lee S, Cardenas CLLino, Lutz SM, Wong D, Guo X, Yao J, Young EP, Tcheandjieu C, Hilliard AT, Bis JC, Bielak LF, Brown MR, Musharoff S, Clarke SL, Terry JG, Palmer ND, Yanek LR, Xu H, Heard-Costa N, Wessel J, Selvaraj MSunitha, Li RH, Sun X, Turner AW, Stilp AM, Khan A, Newman AB, Rasheed A, Freedman BI, Kral BG, McHugh CP, Hodonsky C, Saleheen D, Herrington DM, Jacobs DR, Nickerson DA, Boerwinkle E, Wang FFei, Heiss G, Jun G, Kinney GL, Sigurslid HH, Doddapaneni H, Hall IM, Bensenor IM, Broome J, Crapo JD, Wilson JG, Smith JA, Blangero J, Vargas JD, Mosquera JVerdezoto, Smith JD, Viaud-Martinez KA, Ryan KA, Young KA, Taylor KD, Lange LA, Emery LS, Bittencourt MS, Budoff MJ, Montasser ME, Yu M, Mahaney MC, Mahamdeh MS, Fornage M, Franceschini N, Lotufo PA, Natarajan P, Wong Q, Mathias RA, Gibbs RA, Do R, Mehran R, Tracy RP, Kim RW, Nelson SC, Damrauer SM, Kardia SLR, Rich SS, Fuster V, Napolioni V, Zhao W, Tian W, Yin X, Min Y-I, Manning AK, Peloso G, Kelly TN, O'Donnell CJ, Morrison AC, Curran JE, Zapol WM, Bowden DW, Becker LC, Correa A, Mitchell BD, Psaty BM, Carr JJeffrey, Pereira AC, Assimes TL, Stitziel NO, Hokanson JE, Laurie CA, Rotter JI, Vasan RS, Post WS, Peyser PA, Miller CL, Malhotra R. Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification. Nat Cardiovasc Res. 2023 ;2(12):1159-1172.
2022
Kim W, Hecker J, R Barr G, Boerwinkle E, Cade B, Correa A, Dupuis J, Gharib SA, Lange L, London SJ, Morrison AC, O'Connor GT, Oelsner EC, Psaty BM, Vasan RS, Redline S, Rich SS, Rotter JI, Yu B, Lange C, Manichaikul A, Zhou JJ, Sofer T, Silverman EK, Qiao D, Cho MH. Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data. Hum Mol Genet. 2022 ;31(22):3873-3885.