Publications

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2022
Li Z, Li X, Zhou H, Gaynor SM, Selvaraj MSunitha, Arapoglou T, Quick C, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Auer PL, Bielak LF, Bis JC, Blackwell TW, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Conomos MP, Correa A, L Cupples A, Curran JE, de Vries PS, Duggirala R, Franceschini N, Freedman BI, Göring HHH, Guo X, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Lin BM, Manichaikul A, Manning AK, Martin LW, Mathias RA, Meigs JB, 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, Smith JA, Taylor KD, Taub MA, Vasan RS, Weeks DE, Wilson JG, Yanek LR, Zhao W, Rotter JI, Willer CJ, Natarajan P, Peloso GM, Lin X. A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. Nat Methods. 2022 ;19(12):1599-1611.
Young WJ, Lahrouchi N, Isaacs A, Duong TV, Foco L, Ahmed F, Brody JA, Salman R, Noordam R, Benjamins J-W, Haessler J, Lyytikäinen L-P, Repetto L, Concas MPina, van den Berg ME, Weiss S, Baldassari AR, Bartz TM, Cook JP, Evans DS, Freudling R, Hines O, Isaksen JL, Lin H, Mei H, Moscati A, Müller-Nurasyid M, Nursyifa C, Qian Y, Richmond A, Roselli C, Ryan KA, Tarazona-Santos E, Thériault S, van Duijvenboden S, Warren HR, Yao J, Raza D, Aeschbacher S, Ahlberg G, Alonso A, Andreasen L, Bis JC, Boerwinkle E, Campbell A, Catamo E, Cocca M, Cutler MJ, Darbar D, De Grandi A, De Luca A, Ding J, Ellervik C, Ellinor PT, Felix SB, Froguel P, Fuchsberger C, Gögele M, Graff C, Graff M, Guo X, Hansen T, Heckbert SR, Huang PL, Huikuri HV, Hutri-Kähönen N, M Ikram A, Jackson RD, Junttila J, Kavousi M, Kors JA, Leal TP, Lemaitre RN, Lin HJ, Lind L, Linneberg A, Liu S, Macfarlane PW, Mangino M, Meitinger T, Mezzavilla M, Mishra PP, Mitchell RN, Mononen N, Montasser ME, Morrison AC, Nauck M, Nauffal V, Navarro P, Nikus K, Paré G, Patton KK, Pelliccione G, Pittman A, Porteous DJ, Pramstaller PP, Preuss MH, Raitakari OT, Reiner AP, Ribeiro ALuiz P, Rice KM, Risch L, Schlessinger D, Schotten U, Schurmann C, Shen X, M Shoemaker B, Sinagra G, Sinner MF, Soliman EZ, Stoll M, Strauch K, Tarasov K, Taylor KD, Tinker A, Trompet S, Uitterlinden A, Völker U, Völzke H, Waldenberger M, Weng L-C, Whitsel EA, Wilson JG, Avery CL, Conen D, Correa A, Cucca F, Dörr M, Gharib SA, Girotto G, Grarup N, Hayward C, Jamshidi Y, Jarvelin M-R, J Jukema W, Kääb S, Kähönen M, Kanters JK, Kooperberg C, Lehtimäki T, Lima-Costa MFernanda, Liu Y, Loos RJF, Lubitz SA, Mook-Kanamori DO, Morris AP, O'Connell JR, Olesen MSalling, Orini M, Padmanabhan S, Pattaro C, Peters A, Psaty BM, Rotter JI, Stricker B, van der Harst P, van Duijn CM, Verweij N, Wilson JF, Arking DE, Ramirez J, Lambiase PD, Sotoodehnia N, Mifsud B, Newton-Cheh C, Munroe PB. Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways. Nat Commun. 2022 ;13(1):5144.
Lahti J, Tuominen S, Yang Q, Pergola G, Ahmad S, Amin N, Armstrong NJ, Beiser A, Bey K, Bis JC, Boerwinkle E, Bressler J, Campbell A, Campbell H, Chen Q, Corley J, Cox SR, Davies G, De Jager PL, Derks EM, Faul JD, Fitzpatrick AL, Fohner AE, Ford I, Fornage M, Gerring Z, Grabe HJ, Grodstein F, Gudnason V, Simonsick E, Holliday EG, Joshi PK, Kajantie E, Kaprio J, Karell P, Kleineidam L, Knol MJ, Kochan NA, Kwok JB, Leber M, Lam M, Lee T, Li S, Loukola A, Luck T, Marioni RE, Mather KA, Medland S, Mirza SS, Nalls MA, Nho K, O'Donnell A, Oldmeadow C, Painter J, Pattie A, Reppermund S, Risacher SL, Rose RJ, Sadashivaiah V, Scholz M, Satizabal CL, Schofield PW, Schraut KE, Scott RJ, Simino J, Smith AV, Smith JA, Stott DJ, Surakka I, Teumer A, Thalamuthu A, Trompet S, Turner ST, van der Lee SJ, Villringer A, Völker U, Wilson RS, Wittfeld K, Vuoksimaa E, Xia R, Yaffe K, Yu L, Zare H, Zhao W, Ames D, Attia J, Bennett DA, Brodaty H, Chasman DI, Goldman AL, Hayward C, M Ikram A, J Jukema W, Kardia SLR, Lencz T, Loeffler M, Mattay VS, Palotie A, Psaty BM, Ramirez A, Ridker PM, Riedel-Heller SG, Sachdev PS, Saykin AJ, Scherer M, Schofield PR, Sidney S, Starr JM, Trollor J, Ulrich W, Wagner M, Weir DR, Wilson JF, Wright MJ, Weinberger DR, Debette S, Eriksson JG, Mosley TH, Launer LJ, van Duijn CM, Deary IJ, Seshadri S, Räikkönen K. Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning. Mol Psychiatry. 2022 ;27(11):4419-4431.
Li Y, Cheng Y, Consolato F, Schiano G, Chong MR, Pietzner M, Nguyen NQuynh H, Scherer N, Biggs ML, Kleber ME, Haug S, Göçmen B, Pigeyre M, Sekula P, Steinbrenner I, Schlosser P, Joseph CB, Brody JA, Grams ME, Hayward C, Schultheiss UT, Krämer BK, Kronenberg F, Peters A, Seissler J, Steubl D, Then C, Wuttke M, Marz W, Eckardt K-U, Gieger C, Boerwinkle E, Psaty BM, Coresh J, Oefner PJ, Paré G, Langenberg C, Scherberich JE, Yu B, Akilesh S, Devuyst O, Rampoldi L, Köttgen A. Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases. JCI Insight. 2022 ;7(10).
Kelly TN, Sun X, He KY, Brown MR, Taliun SAGagliano, Hellwege JN, Irvin MR, Mi X, Brody JA, Franceschini N, Guo X, Hwang S-J, de Vries PS, Gao Y, Moscati A, Nadkarni GN, Yanek LR, Elfassy T, Smith JA, Chung R-H, Beitelshees AL, Patki A, Aslibekyan S, Blobner BM, Peralta JM, Assimes TL, Palmas WR, Liu C, Bress AP, Huang Z, Becker LC, Hwa C-M, O'Connell JR, Carlson JC, Warren HR, Das S, Giri A, Martin LW, W Johnson C, Fox ER, Bottinger EP, Razavi AC, Vaidya D, Chuang L-M, Chang Y-PC, Naseri T, Jain D, Kang HMin, Hung AM, Srinivasasainagendra V, Snively BM, Gu D, Montasser ME, Reupena M'aSefuiva, Heavner BD, LeFaive J, Hixson JE, Rice KM, Wang FFei, Nielsen JB, Huang J, Khan AT, Zhou W, Nierenberg JL, Laurie CC, Armstrong ND, Shi M, Pan Y, Stilp AM, Emery L, Wong Q, Hawley NL, Minster RL, Curran JE, Munroe PB, Weeks DE, North KE, Tracy RP, Kenny EE, Shimbo D, Chakravarti A, Rich SS, Reiner AP, Blangero J, Redline S, Mitchell BD, Rao DC, Chen Y-DIda, Kardia SLR, Kaplan RC, Mathias RA, He J, Psaty BM, Fornage M, Loos RJF, Correa A, Boerwinkle E, Rotter JI, Kooperberg C, Edwards TL, Abecasis GR, Zhu X, Levy D, Arnett DK, Morrison AC. Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension. Hypertension. 2022 ;79(8):1656-1667.
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, García-González P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Alvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AArias, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor ABelén, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LIgnacio, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chêne G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen H-H, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MCarolina, Daniele A, Dardiotis E, Dartigues J-F, de Deyn PPaul, Lopes Kde Paiva, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M, Diehl-Schmid J, Diez-Fairen M, Rossi PDionigi, Djurovic S, Duron E, Düzel E, Dufouil C, Eiriksdottir G, Engelborghs S, Escott-Price V, Espinosa A, Ewers M, Faber KM, Fabrizio T, Nielsen SFallgaard, Fardo DW, Farotti L, Fenoglio C, Fernández-Fuertes M, Ferrari R, Ferreira CB, Ferri E, Fin B, Fischer P, Fladby T, Fließbach K, Fongang B, Fornage M, Fortea J, Foroud TM, Fostinelli S, Fox NC, Franco-Macías E, Bullido MJ, Frank-García A, Froelich L, Fulton-Howard B, Galimberti D, García-Alberca JMaría, García-González P, García-Madrona S, Garcia-Ribas G, Ghidoni R, Giegling I, Giorgio G, Goate AM, Goldhardt O, Gomez-Fonseca D, González-Perez A, Graff C, Grande G, Green E, Grimmer T, Grünblatt E, Grunin M, Gudnason V, Guetta-Baranes T, Haapasalo A, Hadjigeorgiou G, Haines JL, Hamilton-Nelson KL, Hampel H, Hanon O, Hardy J, Hartmann AM, Hausner L, Harwood J, Heilmann-Heimbach S, Helisalmi S, Heneka MT, Hernández I, Herrmann MJ, Hoffmann P, Holmes C, Holstege H, Vilas RHuerto, Hulsman M, Humphrey J, Biessels GJan, Jian X, Johansson C, Jun GR, Kastumata Y, Kauwe J, Kehoe PG, Kilander L, Ståhlbom AKinhult, Kivipelto M, Koivisto A, Kornhuber J, Kosmidis MH, Kukull WA, Kuksa PP, Kunkle BW, Kuzma AB, Lage C, Laukka EJ, Launer L, Lauria A, Lee C-Y, Lehtisalo J, Lerch O, Lleo A, Longstreth W, Lopez O, de Munain ALopez, Love S, Löwemark M, Luckcuck L, Lunetta KL, Ma Y, Macías J, MacLeod CA, Maier W, Mangialasche F, Spallazzi M, Marquié M, Marshall R, Martin ER, Montes AMartín, Rodríguez CMartínez, Masullo C, Mayeux R, Mead S, Mecocci P, Medina M, Meggy A, Mehrabian S, Mendoza S, Menéndez-González M, Mir P, Moebus S, Mol M, Molina-Porcel L, Montrreal L, Morelli L, Moreno F, Morgan K, Mosley T, Nöthen MM, Muchnik C, Mukherjee S, Nacmias B, Ngandu T, Nicolas G, Nordestgaard BG, Olaso R, Orellana A, Orsini M, Ortega G, Padovani A, Paolo C, Papenberg G, Parnetti L, Pasquier F, Pastor P, Peloso G, Pérez-Cordón A, Pérez-Tur J, Pericard P, Peters O, Pijnenburg YAL, Pineda JA, Piñol-Ripoll G, Pisanu C, Polak T, Popp J, Posthuma D, Priller J, Puerta R, Quenez O, Quintela I, Thomassen JQvist, Rábano A, Rainero I, Rajabli F, Ramakers I, Real LM, Reinders MJT, Reitz C, Reyes-Dumeyer D, Ridge P, Riedel-Heller S, Riederer P, Roberto N, Rodriguez-Rodriguez E, Rongve A, Allende IRosas, Rosende-Roca M, Royo JLuís, Rubino E, Rujescu D, Sáez MEugenia, Sakka P, Saltvedt I, Sanabria Á, Sánchez-Arjona MBernal, Sanchez-Garcia F, Juan PSánchez, Sánchez-Valle R, Sando SB, Sarnowski C, Satizabal CL, Scamosci M, Scarmeas N, Scarpini E, Scheltens P, Scherbaum N, Scherer M, Schmid M, Schneider A, Schott JM, Selbæk G, Seripa D, Serrano M, Sha J, Shadrin AA, Skrobot O, Slifer S, Snijders GJL, Soininen H, Solfrizzi V, Solomon A, Song Y, Sorbi S, Sotolongo-Grau O, Spalletta G, Spottke A, Squassina A, Stordal E, Tartan JPablo, Tarraga L, Tesi N, Thalamuthu A, Thomas T, Tosto G, Traykov L, Tremolizzo L, Tybjærg-Hansen A, Uitterlinden A, Ullgren A, Ulstein I, Valero S, Valladares O, Van Broeckhoven C, Vance J, Vardarajan BN, van der Lugt A, Van Dongen J, van Rooij J, van Swieten J, Vandenberghe R, Verhey F, Vidal J-S, Vogelgsang J, Vyhnalek M, Wagner M, Wallon D, San Wang L-, Wang R, Weinhold L, Wiltfang J, Windle G, Woods B, Yannakoulia M, Zare H, Zhao Y, Zhang X, Zhu C, Zulaica M, Farrer LA, Psaty BM, Ghanbari M, Raj T, Sachdev P, Mather K, Jessen F, M Ikram A, de Mendonça A, Hort J, Tsolaki M, Pericak-Vance MA, Amouyel P, Williams J, Frikke-Schmidt R, Clarimon J, Deleuze J-F, Rossi G, Seshadri S, Andreassen OA, Ingelsson M, Hiltunen M, Sleegers K, Schellenberg GD, van Duijn CM, Sims R, van der Flier WM, Ruiz A, Ramirez A, Lambert J-C. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nat Genet. 2022 ;54(4):412-436.
Hu X, Qiao D, Kim W, Moll M, Balte PP, Lange LA, Bartz TM, Kumar R, Li X, Yu B, Cade BE, Laurie CA, Sofer T, Ruczinski I, Nickerson DA, Muzny DM, Metcalf GA, Doddapaneni H, Gabriel S, Gupta N, Dugan-Perez S, L Cupples A, Loehr LR, Jain D, Rotter JI, Wilson JG, Psaty BM, Fornage M, Morrison AC, Vasan RS, Washko G, Rich SS, O'Connor GT, Bleecker E, Kaplan RC, Kalhan R, Redline S, Gharib SA, Meyers D, Ortega V, Dupuis J, London SJ, Lappalainen T, Oelsner EC, Silverman EK, R Barr G, Thornton TA, Wheeler HE, Cho MH, Im HKyung, Manichaikul A. Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program. Am J Hum Genet. 2022 ;109(5):857-870.
Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M, Selvaraj MSunitha, Zhang D, Park J, Aguilar-Salinas CA, Antonacci-Fulton L, Ardissino D, Arnett DK, Aslibekyan S, Atzmon G, Ballantyne CM, Barajas-Olmos F, Barzilai N, Becker LC, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Bown MJ, Brody JA, Broome JG, Burtt NP, Cade BE, Centeno-Cruz F, Chan E, Chang Y-C, Chen Y-DI, Cheng C-Y, Choi WJung, Chowdhury, iv R, Contreras-Cubas C, Córdova EJ, Correa A, L Cupples A, Curran JE, Danesh J, de Vries PS, DeFronzo RA, Doddapaneni H, Duggirala R, Dutcher SK, Ellinor PT, Emery LS, Florez JC, Fornage M, Freedman BI, Fuster V, Garay-Sevilla MEugenia, García-Ortiz H, Germer S, Gibbs RA, Gieger C, Glaser B, Gonzalez C, Gonzalez-Villalpando MElena, Graff M, Graham SE, Grarup N, Groop LC, Guo X, Gupta N, Han S, Hanis CL, Hansen T, He J, Heard-Costa NL, Hung Y-J, Hwang MYeong, Irvin MR, Islas-Andrade S, Jarvik GP, Kang HMin, Kardia SLR, Kelly T, Kenny EE, Khan AT, Kim B-J, Kim RW, Kim YJin, Koistinen HA, Kooperberg C, Kuusisto J, Kwak SHeon, Laakso M, Lange LA, Lee J, Lee J, Lee S, Lehman DM, Lemaitre RN, Linneberg A, Liu J, Loos RJF, Lubitz SA, Lyssenko V, Ma RCW, Martin LWarsinger, Martínez-Hernández A, Mathias RA, McGarvey ST, McPherson R, Meigs JB, Meitinger T, Melander O, Mendoza-Caamal E, Metcalf GA, Mi X, Mohlke KL, Montasser ME, Moon J-Y, Moreno-Macias H, Morrison AC, Muzny DM, Nelson SC, Nilsson PM, O'Connell JR, Orho-Melander M, Orozco L, Palmer CNA, Palmer ND, Park CJoo, Park KSoo, Pedersen O, Peralta JM, Peyser PA, Post WS, Preuss M, Psaty BM, Qi Q, Rao DC, Redline S, Reiner AP, Revilla-Monsalve C, Rich SS, Samani N, Schunkert H, Schurmann C, Seo D, Seo J-S, Sim X, Sladek R, Small KS, So WYee, Stilp AM, E Tai S, Tam CHT, Taylor KD, Teo YYing, Thameem F, Tomlinson B, Tsai MY, Tuomi T, Tuomilehto J, Tusie-Luna T, Udler MS, van Dam RM, Vasan RS, Martinez KAViaud, Wang FFei, Wang X, Watkins H, Weeks DE, Wilson JG, Witte DR, Wong T-Y, Yanek LR, Kathiresan S, Rader DJ, Rotter JI, Boehnke M, McCarthy MI, Willer CJ, Natarajan P, Flannick JA, Khera AV, Peloso GM. Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Am J Hum Genet. 2022 ;109(1):81-96.
He KY, Kelly TN, Wang H, Liang J, Zhu L, Cade BE, Assimes TL, Becker LC, Beitelshees AL, Bielak LF, Bress AP, Brody JA, Chang Y-PChristy, Chang Y-C, de Vries PS, Duggirala R, Fox ER, Franceschini N, Furniss AL, Gao Y, Guo X, Haessler J, Hung Y-J, Hwang S-J, Irvin MRyan, Kalyani RR, Liu C-T, Liu C, Martin LWarsinger, Montasser ME, Muntner PM, Mwasongwe S, Naseri T, Palmas W, Reupena M'aSefuiva, Rice KM, Sheu WH-H, Shimbo D, Smith JA, Snively BM, Yanek LR, Zhao W, Blangero J, Boerwinkle E, Chen Y-DIda, Correa A, L Cupples A, Curran JE, Fornage M, He J, Hou L, Kaplan RC, Kardia SLR, Kenny EE, Kooperberg C, Lloyd-Jones D, Loos RJF, Mathias RA, McGarvey ST, Mitchell BD, North KE, Peyser PA, Psaty BM, Raffield LM, Rao DC, Redline S, Reiner AP, Rich SS, Rotter JI, Taylor KD, Tracy R, Vasan RS, Morrison AC, Levy D, Chakravarti A, Arnett DK, Zhu X. Rare coding variants in RCN3 are associated with blood pressure. BMC Genomics. 2022 ;23(1):148.
Liang J, Wang H, Cade BE, Kurniansyah N, He KY, Lee J, Sands SA, Brody JA, Chen H, Gottlieb DJ, Evans DS, Guo X, Gharib SA, Hale L, Hillman DR, Lutsey PL, Mukherjee S, Ochs-Balcom HM, Palmer LJ, Purcell S, Saxena R, Patel SR, Stone KL, Tranah GJ, Boerwinkle E, Lin X, Liu Y, Psaty BM, Vasan RS, Manichaikul A, Rich SS, Rotter JI, Sofer T, Redline S, Zhu X. Targeted Genome Sequencing Identifies Multiple Rare Variants in Caveolin-1 Associated with Obstructive Sleep Apnea. Am J Respir Crit Care Med. 2022 ;206(10):1271-1280.
Wang Z, Choi SWan, Chami N, Boerwinkle E, Fornage M, Redline S, Bis JC, Brody JA, Psaty BM, Kim W, McDonald M-LN, Regan EA, Silverman EK, Liu C-T, Vasan RS, Kalyani RR, Mathias RA, Yanek LR, Arnett DK, Justice AE, North KE, Kaplan R, Heckbert SR, de Andrade M, Guo X, Lange LA, Rich SS, Rotter JI, Ellinor PT, Lubitz SA, Blangero J, M Shoemaker B, Darbar D, Gladwin MT, Albert CM, Chasman DI, Jackson RD, Kooperberg C, Reiner AP, O'Reilly PF, Loos RJF. The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations. Front Endocrinol (Lausanne). 2022 ;13:863893.
Selvaraj MSunitha, Li X, Li Z, Pampana A, Zhang DY, Park J, Aslibekyan S, Bis JC, Brody JA, Cade BE, Chuang L-M, Chung R-H, Curran JE, Fuentes Lde Las, de Vries PS, Duggirala R, Freedman BI, Graff M, Guo X, Heard-Costa N, Hidalgo B, Hwu C-M, Irvin MR, Kelly TN, Kral BG, Lange L, Li X, Lisa M, Lubitz SA, Manichaikul AW, Michael P, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Reupena MS, Smith JA, Sun X, Taylor KD, Tracy RP, Tsai MY, Wang Z, Wang Y, Bao W, Wilkins JT, Yanek LR, Zhao W, Arnett DK, Blangero J, Boerwinkle E, Bowden DW, Chen Y-DIda, Correa A, L Cupples A, Dutcher SK, Ellinor PT, Fornage M, Gabriel S, Germer S, Gibbs RA, He J, Kaplan RC, Kardia SLR, Kim R, Kooperberg C, Loos RJF, Viaud-Martinez KA, Mathias RA, McGarvey ST, Mitchell BD, Nickerson D, North KE, Psaty BM, Redline S, Reiner AP, Vasan RS, Rich SS, Willer C, Rotter JI, Rader DJ, Lin X, Peloso GM, Natarajan P. Whole genome sequence analysis of blood lipid levels in >66,000 individuals. Nat Commun. 2022 ;13(1):5995.
Wheeler MM, Stilp AM, Rao S, Halldórsson BV, Beyter D, Wen J, Mihkaylova AV, McHugh CP, Lane J, Jiang M-Z, Raffield LM, Jun G, Sedlazeck FJ, Metcalf GA, Yao Y, Bis JB, Chami N, de Vries PS, Desai P, Floyd JS, Gao Y, Kammers K, Kim W, Moon J-Y, Ratan A, Yanek LR, Almasy L, Becker LC, Blangero J, Cho MH, Curran JE, Fornage M, Kaplan RC, Lewis JP, Loos RJF, Mitchell BD, Morrison AC, Preuss M, Psaty BM, Rich SS, Rotter JI, Tang H, Tracy RP, Boerwinkle E, Abecasis GR, Blackwell TW, Smith AV, Johnson AD, Mathias RA, Nickerson DA, Conomos MP, Li Y, Þorsteinsdóttir U, Magnússon MK, Stefansson K, Pankratz ND, Bauer DE, Auer PL, Reiner AP. Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program. Nat Commun. 2022 ;13(1):7592.
Pankratz N, Wei P, Brody JA, Chen M-H, de Vries PS, Huffman JE, Stimson MRachel, Auer PL, Boerwinkle E, Cushman M, de Maat MPM, Folsom AR, Franco OH, Gibbs RA, Haagenson KK, Hofman A, Johnsen JM, Kovar CL, Kraaij R, McKnight B, Metcalf GA, Muzny DM, Psaty BM, Tang W, Uitterlinden AG, van Rooij JGJ, Dehghan A, O'Donnell CJ, Reiner AP, Morrison AC, Smith NL. Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors. Hum Mol Genet. 2022 ;31(18):3120-3132.
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.
Yang Y, Knol MJ, Wang R, Mishra A, Liu D, Luciano M, Teumer A, Armstrong N, Bis JC, Jhun MA, Li S, Adams HHH, Aziz NAhmad, Bastin ME, Bourgey M, Brody JA, Frenzel S, Gottesman RF, Hosten N, Hou L, Kardia SLR, Lohner V, Marquis P, Maniega SMuñoz, Satizabal CL, Sorond FA, Hernández MCValdés, van Duijn CM, Vernooij MW, Wittfeld K, Yang Q, Zhao W, Boerwinkle E, Levy D, Deary IJ, Jiang J, Mather KA, Mosley TH, Psaty BM, Sachdev PS, Smith JA, Sotoodehnia N, DeCarli CS, Breteler MMB, M Ikram A, Grabe HJ, Wardlaw J, Longstreth WT, Launer LJ, Seshadri S, Debette S, Fornage M. Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI. Brain. 2023 ;146(2):492-506.
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.
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 ;.