Seung Hoan Choi | Profiles RNS

Seung Hoan Choi, PhD

Research Assistant Professor

Boston University School of Public Health

Biostatistics

PhD, Boston University
MA, Boston University
BS, Stony Brook University

Pronouns: he/him/his

Websites

	ResearchGate
	Github
	Pubmed
	SPH
	Homepage

ORCID : 0000-0002-2797-3190

Dr. Choi's work is at the interface of statistics and genetics, developing and applying statistical methods to further our understanding of the genetics of complex diseases. He has developed his analytic capabilities in genetics, statistics, and large-scale data processing. Dr. Choi’s recent work has used this foundation to elucidate the genetic basis of a common and complex disease, atrial fibrillation. He has led or contributed to many important findings in cardiometabolic genetics and is considered a key investigator in the field.

Dr. Choi received his PhD in Biostatistics from Boston University School of Public Health in 2016 with his focused research in statistical genetics. He then completed a postdoctoral fellowship at the Broad Institute of MIT and Harvard. He also previously held the position of Computational Scientist II at the Broad Institute of MIT and Harvard.

BU Research

Understanding airway mucus dysfunction in population-based studies
08/15/2022 - 07/31/2026 (Subcontract PI)
The Brigham and Women's Hospital, Inc. NIH NHLBI
5R01HL164824-04

Nutritional Omics of Pulmonary Function Decline
11/15/2019 - 07/31/2024 (Subcontract PI)
RTI International NIH NHLBI
1R01HL149352-01

Title

Yr	Title	Project-Sub Proj	Pubs

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.

iCite Analysis Copy PMIDs To Clipboard

Rodriguez Espada A, Haj AK, Jurgens SJ, Eswaran H, Sundler Björkman L, Ryu J, Chaudhry S, Koyama S, Wang X, Choi SH, Sanna-Cherchi S, Banerji A, Rämö JT, Ellinor PT, Grover SP, Bendapudi PK. Population-scale analysis reveals inherited C1-inhibitor deficiency is a polyphenotypic thrombotic disorder. Blood Adv. 2026 Feb 10; 10(3):931-938. PMID: 41026970; DOI: 10.1182/bloodadvances.2025017220;

Wang D, Abbruzzese S, Heard-Costa N, Rampersaud A, Martin E, Naj A, Akgun B, Kunkle B, Seshadri S, Peloso G, DeStefano AL, Li Z, Li X, Choi SH. Application of the STAAR framework in detecting rare variant associations with Alzheimer disease and related dementias: Insights and implications. HGG Adv. 2026 Jan 20; 7(2):100574. PMID: 41560352; DOI: 10.1016/j.xhgg.2026.100574;

Ajufo E, Kany S, Jurgens SJ, Churchill TW, Guseh JS, Aragam KG, Nauffal V, Pirruccello JP, Choi SH, Lakdawala NK, Ho CY, Ellinor PT, Khurshid S. Physical Activity and Cardiovascular Outcomes in Phenotype-Negative Cardiomyopathy Variant Carriers. JAMA Cardiol. 2026 Jan 01; 11(1):45-56. PMID: 41205222; PMCID: PMC12596747; DOI: 10.1001/jamacardio.2025.4466;

Maamari DJ, Biddinger KJ, Jurgens SJ, Rämö JT, Gaziano L, Zheng A, Challa SP, Hayes D, Gongora CA, Choi SH, Chang KM, Tsao PS, Arany Z, Thavendiranathan P, Huffman JE, Fahed AC, Sarma AA, Neilan TG, Khera AV, Ellinor PT, Aragam KG. Polygenic Susceptibility in Peripartum, Alcohol-Induced, and Cancer Therapy-Related Cardiomyopathies. JAMA Cardiol. 2025 Nov 01; 10(11):1138-1146. PMID: 41032333; PMCID: PMC12489798; DOI: 10.1001/jamacardio.2025.3248;

Milstone ZJ, Moreira-Bouchard JD, Smith KK, Anilkumar A, Gower AC, Alekseyev Y, Cunha JA, Fisher N, Legler L, Lepson J, Tao BS, Williams C, Benjamin EJ, Levy D, Mitchell RN, Padera RF, Shah H, Choi SH, Gopal DM, Tucker NR, Fetterman JL. Multiomics investigation of the female hypertensive human heart. Physiol Rep. 2025 Oct; 13(19):e70586.View Related Profiles.

Gower, Adam
Gopal, Deepa
Benjamin, Emelia
Fetterman, Jessica
Choi, Seung Hoan
Alekseyev, Yuriy

PMID: 41036600; PMCID: PMC12489463; DOI: 10.14814/phy2.70586;

Jurgens SJ, Melloni GEM, Kany S, Fabritz L, Rämö JT, Goette A, Kamanu FK, Berg DD, Magnussen C, Choi SH, Bonaca MP, Giugliano RP, Scirica BM, Wiviott SD, Bhatt DL, Steg PG, Raz I, Braunwald E, Pirruccello JP, Sabatine MS, Marston NA, Kirchhof P, Ellinor PT, Ruff CT. Pathogenic Cardiomyopathy-Associated Gene Variants and Prognosis in Atrial Fibrillation: Results in 18,000 Clinical Trial Participants. J Am Coll Cardiol. 2025 Sep 09; 86(10):738-753. PMID: 40903137; DOI: 10.1016/j.jacc.2025.06.052;

Haj AK, Paul DS, Jurgens SJ, Eswaran H, Weng LC, Ryu J, Rodriguez Espada A, Chaudhry S, Feingold LM, Burke K, Koyama S, Wang X, Francis J, Choi SH, Mackman N, Bergmeier W, Burgin A, Rämö JT, Ellinor PT, Grover SP, Bendapudi PK. Coagulation factor XII haploinsufficiency is protective against venous thromboembolism in a population-scale multidimensional analysis. Nat Commun. 2025 Sep 01; 16(1):8176. PMID: 40890099; PMCID: PMC12402198; DOI: 10.1038/s41467-025-62789-5;

Smit RAJ, Wade KH, Hui Q, Arias JD, Yin X, Christiansen MR, Yengo L, Preuss MH, Nakabuye M, Rocheleau G, Graham SE, Buchanan VL, Chittoor G, Graff M, Guindo-Martínez M, Lu Y, Marouli E, Sakaue S, Spracklen CN, Vedantam S, Wilson EP, Chen SH, Ferreira T, Ji Y, Karaderi T, Lüll K, Machado M, Malden DE, Medina-Gomez C, Moore A, Rüeger S, Akiyama M, Allison MA, Alvarez M, Andersen MK, Appadurai V, Arbeeva L, Bartell E, Bhaskar S, Bielak LF, Bis JC, Bollepalli S, Bork-Jensen J, Bradfield JP, Bradford Y, Brandl C, Braund PS, Brody JA, Broeckel U, Burgdorf KS, Cade BE, Cai Q, Camarda S, Campbell A, Cañadas-Garre M, Chai JF, Chesi A, Choi SH, Christofidou P, Couture C, Cuellar-Partida G, Danning R, Degenhardt F, Delgado GE, Delitala A, Demirkan A, Deng X, Dietl A, Dimitriou M, Dimitrov L, Dorajoo R, Eichelmann F, Eliasen AU, Engmann JE, Erdos MR, Fairhurst-Hunter Z, Farmaki AE, Faul JD, Fernandez-Lopez JC, Forer L, Frank M, Freitag-Wolf S, Fritsche LG, Fuchsberger C, Galesloot TE, Gao Y, Geller F, Giannakopoulou O, Giulianini F, Gjesing AP, Goel A, Gordon SD, Gorski M, Grove J, Guo X, Gustafsson S, Haessler J, Hansen TF, Havulinna AS, Haworth SJ, Heard-Costa N, Hemerich D, Highland HM, Hindy G, Ho YL, Hofer E, Holliday E, Horn K, Hornsby WE, Hottenga JJ, Huang H, Huang J, Huerta-Chagoya A, Huo S, Hwang MY, Hwu CM, Iha H, Ikeda DD, Isono M, Jackson AU, Jansen IE, Jiang Y, Johansson I, Jonsson A, Jørgensen T, Kalafati IP, Kanai M, Kanoni S, Kårhus LL, Kasturiratne A, Katsuya T, Kawaguchi T, Kember RL, Kentistou KA, Kim D, Kim HN, Kim YJ, Kleber ME, Knol MJ, Kurbasic A, Lauzon M, Le P, Lea R, Lee JY, Lee WJ, Leonard HL, Li H, Li SA, Li X, Li X, Liang J, Lin H, Lin K, Liu J, Liu X, Lo KS, Long J, Lores-Motta L, Luan J, Lyssenko V, Lyytikäinen LP, Mahajan A, Malik MZ, Mamakou V, Mangino M, Manichaikul A, Marten J, Mattheisen M, McDaid AF, Mei Q, Meiselbach H, Melendez TL, Milaneschi Y, Miller JE, Millwood IY, Mishra PP, Mitchell RE, Møllehave LT, Mononen N, Mucha S, Munz M, Mykkänen J, Nakatochi M, Nardone GG, Nelson CP, Nethander M, Nho CW, Nielsen AA, Nolte IM, Nongmaithem SS, Noordam R, Ntalla I, Nutile T, Pandit A, Pauper M, Petersen ERB, Petersen LV, Piluso F, Polašek O, Poveda A, Pyarajan S, Raffield LM, Rakugi H, Ramirez J, Rasheed A, Raven D, Rayner NW, Riveros C, Rohde R, Ruggiero D, Ruotsalainen SE, Ryan KA, Sabater-Lleal M, Santin A, Saxena R, Scholz M, Shen B, Shi J, Shin JH, Sidore C, Sidorenko J, Sim X, Slieker RC, Smith AV, Smith JA, Smyth LJ, Southam L, Steinthorsdottir V, Sun L, Takeuchi F, Taylor KD, Tayo BO, Tcheandjieu C, Terzikhan N, Tesolin P, Teumer A, Theusch E, Thompson DJ, Thorleifsson G, Timmers PRHJ, Trompet S, Turman C, Vaccargiu S, van der Laan SW, van der Most PJ, van Klinken JB, van Setten J, Verma SS, Verweij N, Veturi Y, Wang CA, Wang C, Wang JS, Wang L, Wang YX, Wang Z, Warren HR, Bin Wei W, Wen W, Wheeler WA, Wickremasinghe AR, Wielscher M, Winsvold BS, Wong A, Wuttke M, Xia R, Yamamoto K, Yang J, Yao J, Young H, Yousri NA, Yu L, Zeng L, Zhang W, Zhang X, Zhao JH, Zhao W, Zhou W, Zimmermann ME, Zoledziewska M, 't Hart LM, Adair LS, Adams HHH, Aguilar-Salinas CA, Al-Mulla F, Arnett DK, Asselbergs FW, Åsvold BO, Attia J, Banas B, Bandinelli S, Beilin LJ, Bennett DA, Bergler T, Bharadwaj D, Biino G, Boerwinkle E, Böger CA, Borja JB, Bouchard C, Bowden DW, Brandslund I, Brumpton B, Buring JE, Caulfield MJ, Chambers JC, Chandak GR, Chanock SJ, Chaturvedi N, Ida Chen YD, Chen Z, Cheng CY, Cho YS, Christensen K, Christophersen IE, Ciullo M, Cole JW, Collins FS, Concas MP, Cooper RS, Cruz M, Cucca F, Cutler MJ, Damrauer SM, Dantoft TM, de Borst GJ, de Geus EJC, de Groot LCPGM, De Jager PL, de Kleijn DPV, de Silva HJ, Dedoussis GV, den Hollander AI, Du S, Easton DF, Eckardt KU, Elders PJM, Eliassen AH, Ellinor PT, Elmståhl S, Erdmann J, Evans MK, Fatkin D, Feenstra B, Feitosa MF, Ferrucci L, Florez JC, Ford I, Fornage M, Franke A, Franks PW, Freedman BI, Gieger C, Girotto G, Golightly YM, et al. Polygenic predictView Related Profiles.

Liu, Ching-Ti
O'Donnell, Christopher
Lin, Honghuang
Buring, Julie
Heard-Costa, Nancy
Mei, Quanshun
Choi, Seung Hoan

PMID: 40691366; PMCID: PMC12443623; DOI: 10.1038/s41591-025-03827-z;

Temple SD, Chapman NH, Choi SH, DeStefano AL, Thornton TA, Wijsman EM, Blue EE. Multiple-testing corrections in case-control studies using identity-by-descent segments. bioRxiv. 2025 Jul 07.View Related Profiles.

DeStefano, Anita
Choi, Seung Hoan

PMID: 40672175; PMCID: PMC12265659; DOI: 10.1101/2025.07.03.663057;

Wijdeveld LFJM, Ajufo E, Challa SP, Rämö JT, Wang X, Kany S, Halford JL, Weng LC, Choi SH, Aragam KG, van Tintelen JP, Brundel BJJM, Jurgens SJ, Ellinor PT. Cardiomyopathy-Associated Gene Variants in Atrial Fibrillation. JAMA Cardiol. 2025 Jun 01; 10(6):564-573. PMID: 40305039; PMCID: PMC12044542; DOI: 10.1001/jamacardio.2025.0460;

Showing 10 of 108 results. Show More

Rämö JT, Gorman BR, Weng LC, Jurgens SJ, Singhanetr P, Tieger MG, van Dijk EH, Halladay CW, Wang X, Hauser BM, Kim SH, Brinks J, Choi SH, Luo Y, Pyarajan S, Nealon CL, Gorin MB, Wu WC, Anthony SA, Roncone DP, Sobrin L, Kaarniranta K, Yzer S, Palotie A, Peachey NS, Turunen JA, Boon CJ, Ellinor PT, Iyengar SK, Daly MJ, Rossin EJ. Rare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma. Nat Commun. 2025 May 03; 16(1):4127. PMID: 40319023; PMCID: PMC12049426; DOI: 10.1038/s41467-025-58686-6;

Chaudhry SA, Haj AK, Ryu J, Jurgens SJ, Rodriguez Espada A, Wang X, Choi SH, Sanna-Cherchi S, Grover SP, Bauer KA, Ellinor PT, Bendapudi PK. Population-Scale Studies of Protein S Abnormalities and Thrombosis. JAMA. 2025 Apr 22; 333(16):1423-1432.View Related Profiles.

Bauer, Kenneth Alan
Choi, Seung Hoan

PMID: 40029645; PMCID: PMC11877412; DOI: 10.1001/jama.2025.0155;

Roselli C, Surakka I, Olesen MS, Sveinbjornsson G, Marston NA, Choi SH, Holm H, Chaffin M, Gudbjartsson D, Hill MC, Aegisdottir H, Albert CM, Alonso A, Anderson CD, Arking DE, Arnar DO, Barnard J, Benjamin EJ, Braunwald E, Brumpton B, Campbell A, Chami N, Chasman DI, Cho K, Choi EK, Christophersen IE, Chung MK, Conen D, Crijns HJ, Cutler MJ, Czuba T, Damrauer SM, Dichgans M, Dörr M, Dudink E, Duong T, Erikstrup C, Esko T, Fatkin D, Faul JD, Ferreira M, Freitag DF, Ganesh SK, Gaziano JM, Geelhoed B, Ghouse J, Gieger C, Giulianini F, Graham SE, Gudnason V, Guo X, Haggerty C, Hayward C, Heckbert SR, Hveem K, Ito K, Johnson R, Jukema JW, Jurgens SJ, Kääb S, Kane JP, Kany S, Kardia SLR, Kavousi M, Khurshid S, Kamanu FK, Kirchhof P, Kleber ME, Knight S, Komuro I, Krieger JE, Launer LJ, Li D, Lin H, Lin HJ, Loos RJF, Lotta L, Lubitz SA, Lunetta KL, Macfarlane PW, Magnusson PKE, Malik R, Mantineo H, Marcus GM, März W, McManus DD, Melander O, Melloni GEM, Meyre PB, Miyazawa K, Mohanty S, Monfort LM, Müller-Nurasyid M, Nafissi NA, Natale A, Nazarian S, Ostrowski SR, Pak HN, Pang S, Pedersen OB, Pedersen NL, Pereira AC, Pirruccello JP, Preuss M, Psaty BM, Pullinger CR, Rader DJ, Rämö JT, Ridker PM, Rienstra M, Risch L, Roden DM, Rotter JI, Sabatine MS, Schunkert H, Shah SH, Shim J, Shoemaker MB, Simonson B, Sinner MF, Smit RAJ, Smith JA, Smith NL, Smith JG, Soliman EZ, Sørensen E, Sotoodehnia N, Strbian D, Stricker BH, Teder-Laving M, Sun YV, Thériault S, Thorolfsdottir RB, Thorsteinsdottir U, Tveit A, van der Harst P, van Meurs J, Wang B, Weiss S, Wells QS, Weng LC, Wilson PW, Xiao L, Yang PS, Yao J, Yoneda ZT, Zeller T, Zeng L, Zhao W, Zhou X, Zöllner S, Ruff CT, Bundgaard H, Willer C, Stefansson K, Ellinor PT. Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases. Nat Genet. 2025 Mar; 57(3):539-547.View Related Profiles.

Benjamin, Emelia
Lin, Honghuang
Gaziano, J. Michael
Lunetta, Kathryn
Choi, Seung Hoan

PMID: 40050429; PMCID: PMC12094172; DOI: 10.1038/s41588-024-02072-3;

Choi SH, Jurgens SJ, Xiao L, Hill MC, Haggerty CM, Sveinbjörnsson G, Morrill VN, Marston NA, Weng LC, Pirruccello JP, Arnar DO, Gudbjartsson DF, Mantineo H, von Falkenhausen AS, Natale A, Tveit A, Geelhoed B, Roselli C, Van Wagoner DR, Darbar D, Haase D, Soliman EZ, Davogustto GE, Jun G, Calkins H, Anderson JL, Brody JA, Halford JL, Barnard J, Hokanson JE, Smith JD, Bis JC, Young K, Johnson LSB, Risch L, Gula LJ, Kwee LC, Chaffin MD, Kühne M, Preuss M, Gupta N, Nafissi NA, Smith NL, Nilsson PM, van der Harst P, Wells QS, Judy RL, Schnabel RB, Johnson R, Smit RAJ, Gabriel S, Knight S, Furukawa T, Blackwell TW, Nauffal V, Wang X, Min YI, Yoneda ZT, Laksman ZWM, Bezzina CR, Alonso A, Psaty BM, Albert CM, Arking DE, Roden DM, Chasman DI, Rader DJ, Conen D, McManus DD, Fatkin D, Benjamin EJ, Boerwinkle E, Marcus GM, Christophersen IE, Smith JG, Roberts JD, Raffield LM, Shoemaker MB, Cho MH, Cutler MJ, Rienstra M, Chung MK, S Olesen M, Sinner MF, Sotoodehnia N, Kirchhof P, Loos RJF, Nazarian S, Mohanty S, Damrauer SM, Kaab S, Heckbert SR, Redline S, Shah SH, Tanaka T, Ebana Y, Holm H, Stefansson K, Ruff CT, Sabatine MS, Lunetta KL, Lubitz SA, Ellinor PT. Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk. Nat Genet. 2025 Mar; 57(3):548-562.View Related Profiles.

Benjamin, Emelia
Lunetta, Kathryn
Choi, Seung Hoan

PMID: 40050430; DOI: 10.1038/s41588-025-02074-9;

Wang B, Chibnik LB, Choi SH, Blacker D, DeStefano AL, Lin H. Association of genetic risk of Alzheimer's disease and cognitive function in two European populations. Sci Rep. 2025 Feb 21; 15(1):6410.View Related Profiles.

DeStefano, Anita
Lin, Honghuang
Chibnik, Lori
Choi, Seung Hoan

PMID: 39984543; PMCID: PMC11845681; DOI: 10.1038/s41598-025-90277-9;

Friedman SF, Khurshid S, Venn RA, Wang X, Diamant N, Di Achille P, Weng LC, Choi SH, Reeder C, Pirruccello JP, Singh P, Lau ES, Philippakis A, Anderson CD, Maddah M, Batra P, Ellinor PT, Ho JE, Lubitz SA. Unsupervised deep learning of electrocardiograms enables scalable human disease profiling. NPJ Digit Med. 2025 Jan 12; 8(1):23. PMID: 39799251; PMCID: PMC11724961; DOI: 10.1038/s41746-024-01418-9;

Choi SH, Young R, Koyama S, Jukema JW, Trompet S, Ford I, Natarajan P, Peloso GM. Genetic Predisposition to Coronary Artery Disease: Evaluating Statin Therapy in Elder Populations From PROSPER. JACC Adv. 2025 Feb; 4(2):101535.View Related Profiles.

Peloso, Gina
Choi, Seung Hoan

PMID: 39886309; PMCID: PMC11780074; DOI: 10.1016/j.jacadv.2024.101535;

Weng LC, Rämö JT, Jurgens SJ, Khurshid S, Chaffin M, Hall AW, Morrill VN, Wang X, Nauffal V, Sun YV, Beer D, Lee S, Nadkarni GN, Duong T, Wang B, Czuba T, Austin TR, Yoneda ZT, Friedman DJ, Clayton A, Hyman MC, Judy RL, Skanes AC, Orland KM, Treu TM, Oetjens MT, Alonso A, Soliman EZ, Lin H, Lunetta KL, van der Pals J, Issa TZ, Nafissi NA, May HT, Leong-Sit P, Roselli C, Choi SH, Khan HR, Knight S, Karlsson Linnér R, Bezzina CR, Ripatti S, Heckbert SR, Gaziano JM, Loos RJF, Psaty BM, Smith JG, Benjamin EJ, Arking DE, Rader DJ, Shah SH, Roden DM, Damrauer SM, Eckhardt LL, Roberts JD, Cutler MJ, Shoemaker MB, Haggerty CM, Cho K, Palotie A, Wilson PWF, Ellinor PT, Lubitz SA. The impact of common and rare genetic variants on bradyarrhythmia development. Nat Genet. 2025 Jan; 57(1):53-64.View Related Profiles.

Benjamin, Emelia
Lin, Honghuang
Gaziano, J. Michael
Lunetta, Kathryn
Choi, Seung Hoan

PMID: 39747593; PMCID: PMC11735381; DOI: 10.1038/s41588-024-01978-2;

Le Borgne J, Gomez L, Heikkinen S, Amin N, Ahmad S, Choi SH, Bis J, Grenier-Boley B, Rodriguez OG, Kleineidam L, Young J, Tripathi KP, Wang L, Varma A, Campos-Martin R, van der Lee S, Damotte V, de Rojas I, Palmal S, Lipton R, Reiman E, McKee A, De Jager P, Bush W, Small S, Levey A, Saykin A, Foroud T, Albert M, Hyman B, Petersen R, Younkin S, Sano M, Wisniewski T, Vassar R, Schneider J, Henderson V, Roberson E, DeCarli C, LaFerla F, Brewer J, Swerdlow R, Van Eldik L, Hamilton-Nelson K, Paulson H, Naj A, Lopez O, Chui H, Crane P, Grabowski T, Kukull W, Asthana S, Craft S, Strittmatter S, Cruchaga C, Leverenz J, Goate A, Kamboh MI, George-Hyslop PS, Valladares O, Kuzma A, Cantwell L, Riemenschneider M, Morris J, Slifer S, Dalmasso C, Castillo A, Küçükali F, Peters O, Schneider A, Dichgans M, Rujescu D, Scherbaum N, Deckert J, Riedel-Heller S, Hausner L, Molina-Porcel L, Düzel E, Grimmer T, Wiltfang J, Heilmann-Heimbach S, Moebus S, Tegos T, Scarmeas N, Dols-Icardo O, Moreno F, Pérez-Tur J, Bullido MJ, Pastor P, Sánchez-Valle R, Álvarez V, Boada M, García-González P, Puerta R, Mir P, Real LM, Piñol-Ripoll G, García-Alberca JM, Royo JL, Rodriguez-Rodriguez E, Soininen H, de Mendonça A, Mehrabian S, Traykov L, Hort J, Vyhnalek M, Thomassen JQ, Pijnenburg YAL, Holstege H, van Swieten J, Ramakers I, Verhey F, Scheltens P, Graff C, Papenberg G, Giedraitis V, Boland A, Deleuze JF, Nicolas G, Dufouil C, Pasquier F, Hanon O, Debette S, Grünblatt E, Popp J, Ghidoni R, Galimberti D, Arosio B, Mecocci P, Solfrizzi V, Parnetti L, Squassina A, Tremolizzo L, Borroni B, Nacmias B, Spallazzi M, Seripa D, Rainero I, Daniele A, Bossù P, Masullo C, Rossi G, Jessen F, Fernandez V, Kehoe PG, Frikke-Schmidt R, Tsolaki M, Sánchez-Juan P, Sleegers K, Ingelsson M, Haines J, Farrer L, Mayeux R, Wang LS, Sims R, DeStefano A, Schellenberg GD, Seshadri S, Amouyel P, Williams J, van der Flier W, Ramirez A, Pericak-Vance M, Andreassen OA, Van Duijn C, Hiltunen M, Ruiz A, Dupuis J, Martin E, Lambert JC, Kunkle B, Bellenguez C. X-chromosome-wide association study for Alzheimer's disease. Mol Psychiatry. 2025 Jun; 30(6):2335-2346.View Related Profiles.

DeStefano, Anita
Dupuis, Josee
Farrer, Lindsay
Choi, Seung Hoan
Seshadri, Sudha

PMID: 39633006; PMCID: PMC12092188; DOI: 10.1038/s41380-024-02838-5;

Jurgens SJ, Rämö JT, Kramarenko DR, Wijdeveld LFJM, Haas J, Chaffin MD, Garnier S, Gaziano L, Weng LC, Lipov A, Zheng SL, Henry A, Huffman JE, Challa S, Rühle F, Verdugo CD, Krijger Juárez C, Kany S, van Orsouw CA, Biddinger K, Poel E, Elliott AL, Wang X, Francis C, Ruan R, Koyama S, Beekman L, Zimmerman DS, Deleuze JF, Villard E, Trégouët DA, Isnard R, Boomsma DI, de Geus EJC, Tadros R, Pinto YM, Wilde AAM, Hottenga JJ, Sinisalo J, Niiranen T, Walsh R, Schmidt AF, Choi SH, Chang KM, Tsao PS, Matthews PM, Ware JS, Lumbers RT, van der Crabben S, Laukkanen J, Palotie A, Amin AS, Charron P, Meder B, Ellinor PT, Daly M, Aragam KG, Bezzina CR. Publisher Correction: Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience. Nat Genet. 2024 Dec; 56(12):2843. PMID: 39633063; PMCID: PMC11631751; DOI: 10.1038/s41588-024-02047-4;

Patchen BK, Zhang J, Gaddis N, Bartz TM, Chen J, Debban C, Leonard H, Nguyen NQ, Seo J, Tern C, Allen R, DeMeo DL, Fornage M, Melbourne C, Minto M, Moll M, O'Connor G, Pottinger T, Psaty BM, Rich SS, Rotter JI, Silverman EK, Stratford J, Graham Barr R, Cho MH, Gharib SA, Manichaikul A, North K, Oelsner EC, Simonsick EM, Tobin MD, Yu B, Choi SH, Dupuis J, Cassano PA, Hancock DB. Multi-ancestry genome-wide association study reveals novel genetic signals for lung function decline. medRxiv. 2024 Nov 27.View Related Profiles.

O'Connor, George
Dupuis, Josee
Choi, Seung Hoan

PMID: 39649580; PMCID: PMC11623738; DOI: 10.1101/2024.11.25.24317794;

Jurgens SJ, Rämö JT, Kramarenko DR, Wijdeveld LFJM, Haas J, Chaffin MD, Garnier S, Gaziano L, Weng LC, Lipov A, Zheng SL, Henry A, Huffman JE, Challa S, Rühle F, Verdugo CD, Krijger Juárez C, Kany S, van Orsouw CA, Biddinger K, Poel E, Elliott AL, Wang X, Francis C, Ruan R, Koyama S, Beekman L, Zimmerman DS, Deleuze JF, Villard E, Trégouët DA, Isnard R, Boomsma DI, de Geus EJC, Tadros R, Pinto YM, Wilde AAM, Hottenga JJ, Sinisalo J, Niiranen T, Walsh R, Schmidt AF, Choi SH, Chang KM, Tsao PS, Matthews PM, Ware JS, Lumbers RT, van der Crabben S, Laukkanen J, Palotie A, Amin AS, Charron P, Meder B, Ellinor PT, Daly M, Aragam KG, Bezzina CR. Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience. Nat Genet. 2024 Dec; 56(12):2636-2645. PMID: 39572784; PMCID: PMC11631763; DOI: 10.1038/s41588-024-01975-5;

Lee WP, Choi SH, Shea MG, Cheng PL, Dombroski BA, Pitsillides AN, Heard-Costa NL, Wang H, Bulekova K, Kuzma AB, Leung YY, Farrell JJ, Lin H, Kunkle BW, Naj A, Blue EE, Nusetor F, Wang D, Boerwinkle E, Bush WS, Zhang X, De Jager PL, Dupuis J, Farrer LA, Fornage M, Martin E, Pericak-Vance M, Seshadri S, Wijsman EM, Wang LS, Schellenberg GD, Destefano AL, Haines JL, Peloso GM. Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project. Alzheimers Dement. 2024 Dec; 20(12):8470-8483.View Related Profiles.

DeStefano, Anita
Peloso, Gina
Lin, Honghuang
Dupuis, Josee
Bulekova, Katia
Farrer, Lindsay
Heard-Costa, Nancy
Choi, Seung Hoan
Seshadri, Sudha
Zhang, Xiaoling

PMID: 39428839; PMCID: PMC11667527; DOI: 10.1002/alz.14283;

Haj AK, Ryu J, Jurgens SJ, Chaudhry S, Koyama S, Wang X, Choi SH, Hou C, Sanna-Cherchi S, Anderson CD, Ellinor PT, Bendapudi PK. Loss of function in protein Z (PROZ) is associated with increased risk of ischemic stroke in the UK Biobank. J Thromb Haemost. 2025 Jan; 23(1):171-180. PMID: 39383998; PMCID: PMC11725435; DOI: 10.1016/j.jtha.2024.09.016;

Koyama S, Yu Z, Choi SH, Jurgens SJ, Selvaraj MS, Klarin D, Huffman JE, Clarke SL, Trinh MN, Ravi A, Dron JS, Spinks C, Surakka I, Bhatnagar A, Lannery K, Hornsby W, Damrauer SM, Chang KM, Lynch JA, Assimes TL, Tsao PS, Rader DJ, Cho K, Peloso GM, Ellinor PT, Sun YV, Wilson PW, Program MV, Natarajan P. Exome wide association study for blood lipids in 1,158,017 individuals from diverse populations. medRxiv. 2024 Sep 18.View Related Profiles.

Peloso, Gina
Choi, Seung Hoan

PMID: 39371182; PMCID: PMC11451673; DOI: 10.1101/2024.09.17.24313718;

Rämö JT, Jurgens SJ, Kany S, Choi SH, Wang X, Smirnov AN, Friedman SF, Maddah M, Khurshid S, Ellinor PT, Pirruccello JP. Rare Genetic Variants in LDLR, APOB, and PCSK9 Are Associated With Aortic Stenosis. Circulation. 2024 Nov 26; 150(22):1767-1780. PMID: 39222019; PMCID: PMC11915876; DOI: 10.1161/CIRCULATIONAHA.124.070982;

Jurgens SJ, Wang X, Choi SH, Weng LC, Koyama S, Pirruccello JP, Nguyen T, Smadbeck P, Jang D, Chaffin M, Walsh R, Roselli C, Elliott AL, Wijdeveld LFJM, Biddinger KJ, Kany S, Rämö JT, Natarajan P, Aragam KG, Flannick J, Burtt NP, Bezzina CR, Lubitz SA, Lunetta KL, Ellinor PT. Rare coding variant analysis for human diseases across biobanks and ancestries. Nat Genet. 2024 Sep; 56(9):1811-1820.View Related Profiles.

Lunetta, Kathryn
Choi, Seung Hoan

PMID: 39210047; PMCID: PMC7618415; DOI: 10.1038/s41588-024-01894-5;

Ryu J, Rämö JT, Jurgens SJ, Niiranen T, Sanna-Cherchi S, Bauer KA, Haj A, Choi SH, Palotie A, Daly M, Ellinor PT, Bendapudi PK. Thrombosis risk in single- and double-heterozygous carriers of factor V Leiden and prothrombin G20210A in FinnGen and the UK Biobank. Blood. 2024 Jun 06; 143(23):2425-2432.View Related Profiles.

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Choi, Seung Hoan

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Weng LC, Khurshid S, Hall AW, Nauffal V, Morrill VN, Sun YV, Rämö JT, Beer D, Lee S, Nadkarni G, Johnson R, Andreasen L, Clayton A, Pullinger CR, Yoneda ZT, Friedman DJ, Hyman MC, Judy RL, Skanes AC, Orland KM, Jordà P, Treu TM, Oetjens MT, Subbiah R, Hartmann JP, May HT, Kane JP, Issa TZ, Nafissi NA, Leong-Sit P, Dubé MP, Roselli C, Choi SH, Tardif JC, Khan HR, Knight S, Svendsen JH, Walker B, Karlsson Linnér R, Gaziano JM, Tadros R, Fatkin D, Rader DJ, Shah SH, Roden DM, Marcus GM, Loos RJF, Damrauer SM, Haggerty CM, Cho K, Palotie A, Olesen MS, Eckhardt LL, Roberts JD, Cutler MJ, Shoemaker MB, Wilson PWF, Ellinor PT, Lubitz SA. Meta-Analysis of Genome-Wide Association Studies Reveals Genetic Mechanisms of Supraventricular Arrhythmias. Circ Genom Precis Med. 2024 Jun; 17(3):e004320.View Related Profiles.

Gaziano, J. Michael
Choi, Seung Hoan

PMID: 38804128; PMCID: PMC11187659; DOI: 10.1161/CIRCGEN.123.004320;

Nauffal V, Klarqvist MDR, Hill MC, Pace DF, Di Achille P, Choi SH, Rämö JT, Pirruccello JP, Singh P, Kany S, Hou C, Ng K, Philippakis AA, Batra P, Lubitz SA, Ellinor PT. Noninvasive assessment of organ-specific and shared pathways in multi-organ fibrosis using T1 mapping. Nat Med. 2024 Jun; 30(6):1749-1760. PMID: 38806679; PMCID: PMC12574816; DOI: 10.1038/s41591-024-03010-w;

Pirruccello JP, Di Achille P, Choi SH, Rämö JT, Khurshid S, Nekoui M, Jurgens SJ, Nauffal V, Kany S, Ng K, Friedman SF, Batra P, Lunetta KL, Palotie A, Philippakis AA, Ho JE, Lubitz SA, Ellinor PT. Deep learning of left atrial structure and function provides link to atrial fibrillation risk. Nat Commun. 2024 May 21; 15(1):4304.View Related Profiles.

Lunetta, Kathryn
Choi, Seung Hoan

PMID: 38773065; PMCID: PMC11109224; DOI: 10.1038/s41467-024-48229-w;

Rämö JT, Gorman B, Weng LC, Jurgens SJ, Singhanetr P, Tieger MG, van Dijk EH, Halladay CW, Wang X, Brinks J, Choi SH, Luo Y, Pyarajan S, Nealon CL, Gorin MB, Wu WC, Sobrin L, Kaarniranta K, Yzer S, Palotie A, Peachey NS, Turunen JA, Boon CJ, Ellinor PT, Iyengar SK, Daly MJ, Rossin EJ. Rare genetic variation in VE-PTP is associated with central serous chorioretinopathy, venous dysfunction and glaucoma. medRxiv. 2024 May 09. PMID: 38766240; PMCID: PMC11100937; DOI: 10.1101/2024.05.08.24307013;

Baudic M, Murata H, Bosada FM, Melo US, Aizawa T, Lindenbaum P, van der Maarel LE, Guedon A, Baron E, Fremy E, Foucal A, Ishikawa T, Ushinohama H, Jurgens SJ, Choi SH, Kyndt F, Le Scouarnec S, Wakker V, Thollet A, Rajalu A, Takaki T, Ohno S, Shimizu W, Horie M, Kimura T, Ellinor PT, Petit F, Dulac Y, Bru P, Boland A, Deleuze JF, Redon R, Le Marec H, Le Tourneau T, Gourraud JB, Yoshida Y, Makita N, Vieyres C, Makiyama T, Mundlos S, Christoffels VM, Probst V, Schott JJ, Barc J. TAD boundary deletion causes PITX2-related cardiac electrical and structural defects. Nat Commun. 2024 Apr 20; 15(1):3380. PMID: 38643172; PMCID: PMC11032321; DOI: 10.1038/s41467-024-47739-x;

Wang Y, Sarnowski C, Lin H, Pitsillides AN, Heard-Costa NL, Choi SH, Wang D, Bis JC, Blue EE, Boerwinkle E, De Jager PL, Fornage M, Wijsman EM, Seshadri S, Dupuis J, Peloso GM, DeStefano AL. Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data. Alzheimers Dement. 2024 May; 20(5):3290-3304.View Related Profiles.

DeStefano, Anita
Peloso, Gina
Lin, Honghuang
Dupuis, Josee
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Choi, Seung Hoan
Seshadri, Sudha

PMID: 38511601; PMCID: PMC11095439; DOI: 10.1002/alz.13705;

Wang B, Dron JS, Wang Y, Choi SH, Huffman JE, Cho K, Wilson PWF, Natarajan P, Peloso GM. Lipid levels and risk of acute pancreatitis using bidirectional Mendelian randomization. Sci Rep. 2024 Mar 15; 14(1):6267.View Related Profiles.

Wang, Biqi
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Choi, Seung Hoan

PMID: 38491158; PMCID: PMC10942988; DOI: 10.1038/s41598-024-56946-x;

Genomic data in the All of Us Research Program. Nature. 2024 Mar; 627(8003):340-346. PMID: 38374255; PMCID: PMC10937371; DOI: 10.1038/s41586-023-06957-x;

Lee WP, Choi SH, Shea MG, Cheng PL, Dombroski BA, Pitsillides AN, Heard-Costa NL, Wang H, Bulekova K, Kuzma AB, Leung YY, Farrell JJ, Lin H, Naj A, Blue EE, Nusetor F, Wang D, Boerwinkle E, Bush WS, Zhang X, De Jager PL, Dupuis J, Farrer LA, Fornage M, Martin E, Pericak-Vance M, Seshadri S, Wijsman EM, Wang LS, Schellenberg GD, Destefano AL, Haines JL, Peloso GM. Association of Common and Rare Variants with Alzheimer's Disease in over 13,000 Diverse Individuals with Whole-Genome Sequencing from the Alzheimer's Disease Sequencing Project. medRxiv. 2023 Sep 02.View Related Profiles.

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Peloso, Gina
Lin, Honghuang
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Choi, Seung Hoan
Seshadri, Sudha

PMID: 37693521; PMCID: PMC10491367; DOI: 10.1101/2023.09.01.23294953;

Wang Y, Sarnowski C, Lin H, Pitsillides AN, Heard-Costa NL, Choi SH, Wang D, Bis JC, Blue EE, Boerwinkle E, De Jager PL, Fornage M, Wijsman EM, Seshadri S, Dupuis J, Peloso GM, DeStefano AL. Key variants via Alzheimer's Disease Sequencing Project whole genome sequence data. medRxiv. 2023 Aug 29.View Related Profiles.

DeStefano, Anita
Peloso, Gina
Lin, Honghuang
Dupuis, Josee
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Choi, Seung Hoan
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PMID: 37693453; PMCID: PMC10491364; DOI: 10.1101/2023.08.28.23294631;

Wang X, Khurshid S, Choi SH, Friedman S, Weng LC, Reeder C, Pirruccello JP, Singh P, Lau ES, Venn R, Diamant N, Di Achille P, Philippakis A, Anderson CD, Ho JE, Ellinor PT, Batra P, Lubitz SA. Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-Lead Electrocardiograms. Circ Genom Precis Med. 2023 Aug; 16(4):340-349. PMID: 37278238; PMCID: PMC10524395; DOI: 10.1161/CIRCGEN.122.003808;

Pham C, Andrzejczyk K, Jurgens SJ, Lekanne Deprez R, Palm KCA, Vermeer AMC, Nijman J, Christiaans I, Barge-Schaapveld DQCM, van Dessel PFHM, Beekman L, Choi SH, Lubitz SA, Skoric-Milosavljevic D, van den Bersselaar L, Jansen PR, Copier JS, Ellinor PT, Wilde AAM, Bezzina CR, Lodder EM. Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias. Circ Genom Precis Med. 2023 Aug; 16(4):328-336. PMID: 37199186; PMCID: PMC10426786; DOI: 10.1161/CIRCGEN.122.003975;

Rämö JT, Abner E, van Dijk EHC, Wang X, Brinks J, Nikopensius T, Nõukas M, Marjonen H, Silander K, Jukarainen S, Kiiskinen T, Choi SH, Kajanne R, Mehtonen J, Palta P, Lubitz SA, Kaarniranta K, Sobrin L, Kurki M, Yzer S, Ellinor PT, Esko T, Daly MJ, den Hollander AI, Palotie A, Turunen JA, Boon CJF, Rossin EJ. Overlap of Genetic Loci for Central Serous Chorioretinopathy With Age-Related Macular Degeneration. JAMA Ophthalmol. 2023 May 01; 141(5):449-457. PMID: 37079300; PMCID: PMC10119776; DOI: 10.1001/jamaophthalmol.2023.0706;

Nauffal V, Di Achille P, Klarqvist MDR, Cunningham JW, Hill MC, Pirruccello JP, Weng LC, Morrill VN, Choi SH, Khurshid S, Friedman SF, Nekoui M, Roselli C, Ng K, Philippakis AA, Batra P, Ellinor PT, Lubitz SA. Genetics of myocardial interstitial fibrosis in the human heart and association with disease. Nat Genet. 2023 May; 55(5):777-786. PMID: 37081215; PMCID: PMC11107861; DOI: 10.1038/s41588-023-01371-5;

Wang X, Ryu J, Kim J, Ramirez A, Mayo KR, Condon H, Vaitinadin NS, Ohno-Machado L, Talavera GA, Ellinor PT, Lubitz SA, Choi SH. Common and rare variants associated with cardiometabolic traits across 98,622 whole-genome sequences in the All of Us research program. J Hum Genet. 2023 Aug; 68(8):565-570. PMID: 37072623; PMCID: PMC10524735; DOI: 10.1038/s10038-023-01147-z;

Pirruccello JP, Rämö JT, Choi SH, Chaffin MD, Kany S, Nekoui M, Chou EL, Jurgens SJ, Friedman SF, Juric D, Stone JR, Batra P, Ng K, Philippakis AA, Lindsay ME, Ellinor PT. The Genetic Determinants of Aortic Distention. J Am Coll Cardiol. 2023 Apr 11; 81(14):1320-1335. PMID: 37019578; PMCID: PMC11246604; DOI: 10.1016/j.jacc.2023.01.044;

Jurgens SJ, Pirruccello JP, Choi SH, Morrill VN, Chaffin M, Lubitz SA, Lunetta KL, Ellinor PT. Adjusting for common variant polygenic scores improves yield in rare variant association analyses. Nat Genet. 2023 Apr; 55(4):544-548.View Related Profiles.

Lunetta, Kathryn
Choi, Seung Hoan

PMID: 36959364; PMCID: PMC11078202; DOI: 10.1038/s41588-023-01342-w;

Khurshid S, Lazarte J, Pirruccello JP, Weng LC, Choi SH, Hall AW, Wang X, Friedman SF, Nauffal V, Biddinger KJ, Aragam KG, Batra P, Ho JE, Philippakis AA, Ellinor PT, Lubitz SA. Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass. Nat Commun. 2023 Mar 21; 14(1):1558. PMID: 36944631; PMCID: PMC10030590; DOI: 10.1038/s41467-023-37173-w;

Cunningham JW, Di Achille P, Morrill VN, Weng LC, Choi SH, Khurshid S, Nauffal V, Pirruccello JP, Solomon SD, Batra P, Ho JE, Philippakis AA, Ellinor PT, Lubitz SA. Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch. Circ Genom Precis Med. 2023 Feb; 16(1):e003676. PMID: 36580284; PMCID: PMC9975074; DOI: 10.1161/CIRCGEN.121.003676;

Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU, Jiang Y, Raghavan S, Miao J, Arias JD, Graham SE, Mukamel RE, Spracklen CN, Yin X, Chen SH, Ferreira T, Highland HH, Ji Y, Karaderi T, Lin K, Lüll K, Malden DE, Medina-Gomez C, Machado M, Moore A, Rüeger S, Sim X, Vrieze S, Ahluwalia TS, Akiyama M, Allison MA, Alvarez M, Andersen MK, Ani A, Appadurai V, Arbeeva L, Bhaskar S, Bielak LF, Bollepalli S, Bonnycastle LL, Bork-Jensen J, Bradfield JP, Bradford Y, Braund PS, Brody JA, Burgdorf KS, Cade BE, Cai H, Cai Q, Campbell A, Cañadas-Garre M, Catamo E, Chai JF, Chai X, Chang LC, Chang YC, Chen CH, Chesi A, Choi SH, Chung RH, Cocca M, Concas MP, Couture C, Cuellar-Partida G, Danning R, Daw EW, Degenhard F, Delgado GE, Delitala A, Demirkan A, Deng X, Devineni P, Dietl A, Dimitriou M, Dimitrov L, Dorajoo R, Ekici AB, Engmann JE, Fairhurst-Hunter Z, Farmaki AE, Faul JD, Fernandez-Lopez JC, Forer L, Francescatto M, Freitag-Wolf S, Fuchsberger C, Galesloot TE, Gao Y, Gao Z, Geller F, Giannakopoulou O, Giulianini F, Gjesing AP, Goel A, Gordon SD, Gorski M, Grove J, Guo X, Gustafsson S, Haessler J, Hansen TF, Havulinna AS, Haworth SJ, He J, Heard-Costa N, Hebbar P, Hindy G, Ho YA, Hofer E, Holliday E, Horn K, Hornsby WE, Hottenga JJ, Huang H, Huang J, Huerta-Chagoya A, Huffman JE, Hung YJ, Huo S, Hwang MY, Iha H, Ikeda DD, Isono M, Jackson AU, Jäger S, Jansen IE, Johansson I, Jonas JB, Jonsson A, Jørgensen T, Kalafati IP, Kanai M, Kanoni S, Kårhus LL, Kasturiratne A, Katsuya T, Kawaguchi T, Kember RL, Kentistou KA, Kim HN, Kim YJ, Kleber ME, Knol MJ, Kurbasic A, Lauzon M, Le P, Lea R, Lee JY, Leonard HL, Li SA, Li X, Li X, Liang J, Lin H, Lin SY, Liu J, Liu X, Lo KS, Long J, Lores-Motta L, Luan J, Lyssenko V, Lyytikäinen LP, Mahajan A, Mamakou V, Mangino M, Manichaikul A, Marten J, Mattheisen M, Mavarani L, McDaid AF, Meidtner K, Melendez TL, Mercader JM, Milaneschi Y, Miller JE, Millwood IY, Mishra PP, Mitchell RE, Møllehave LT, Morgan A, Mucha S, Munz M, Nakatochi M, Nelson CP, Nethander M, Nho CW, Nielsen AA, Nolte IM, Nongmaithem SS, Noordam R, Ntalla I, Nutile T, Pandit A, Christofidou P, Pärna K, Pauper M, Petersen ERB, Petersen LV, Pitkänen N, Polašek O, Poveda A, Preuss MH, Pyarajan S, Raffield LM, Rakugi H, Ramirez J, Rasheed A, Raven D, Rayner NW, Riveros C, Rohde R, Ruggiero D, Ruotsalainen SE, Ryan KA, Sabater-Lleal M, Saxena R, Scholz M, Sendamarai A, Shen B, Shi J, Shin JH, Sidore C, Sitlani CM, Slieker RC, Smit RAJ, Smith AV, Smith JA, Smyth LJ, Southam L, Steinthorsdottir V, Sun L, Takeuchi F, Tallapragada DSP, Taylor KD, Tayo BO, Tcheandjieu C, Terzikhan N, Tesolin P, Teumer A, Theusch E, Thompson DJ, Thorleifsson G, Timmers PRHJ, Trompet S, Turman C, Vaccargiu S, van der Laan SW, van der Most PJ, van Klinken JB, van Setten J, Verma SS, Verweij N, Veturi Y, Wang CA, Wang C, Wang L, Wang Z, Warren HR, Bin Wei W, Wickremasinghe AR, Wielscher M, Wiggins KL, Winsvold BS, Wong A, Wu Y, Wuttke M, Xia R, Xie T, Yamamoto K, Yang J, Yao J, Young H, Yousri NA, Yu L, Zeng L, Zhang W, Zhang X, Zhao JH, Zhao W, Zhou W, Zimmermann ME, Zoledziewska M, Adair LS, Adams HHH, Aguilar-Salinas CA, Al-Mulla F, Arnett DK, Asselbergs FW, Åsvold BO, Attia J, Banas B, Bandinelli S, Bennett DA, Bergler T, Bharadwaj D, Biino G, Bisgaard H, Boerwinkle E, Böger CA, Bønnelykke K, Boomsma DI, Børglum AD, Borja JB, Bouchard C, Bowden DW, Brandslund I, Brumpton B, Buring JE, Caulfield MJ, Chambers JC, Chandak GR, Chanock SJ, Chaturvedi N, Chen YI, Chen Z, Cheng CY, Christophersen IE, Ciullo M, Cole JW, Collins FS, Cooper RS, Cruz M, Cucca F, Cupples LA, Cutler MJ, Damrauer SM, Dantoft TM, de Borst GJ, de Groot LCPGM, De Jager PL, de Kleijn DPV, Janaka de Silva H, Dedoussis GV, den Hollander AI, Du S, Easton DF, Elders PJM, Eliassen AH, Ellinor PT, Elmståhl S, Erdmann J, Evans MK, Fatkin D, Feenstra B, Feitosa MF, Ferrucci L, Ford I, Fornage M, Franke A, Franks PW, Freedman BI, Gasparini P, Gieger C, et al. A saturated View Related Profiles.

Liu, Ching-Ti
O'Donnell, Christopher
Lin, Honghuang
Buring, Julie
Heard-Costa, Nancy
Choi, Seung Hoan

PMID: 36224396; PMCID: PMC9605867; DOI: 10.1038/s41586-022-05275-y;

Halford JL, Morrill VN, Choi SH, Jurgens SJ, Melloni G, Marston NA, Weng LC, Nauffal V, Hall AW, Gunn S, Austin-Tse CA, Pirruccello JP, Khurshid S, Rehm HL, Benjamin EJ, Boerwinkle E, Brody JA, Correa A, Fornwalt BK, Gupta N, Haggerty CM, Harris S, Heckbert SR, Hong CC, Kooperberg C, Lin HJ, Loos RJF, Mitchell BD, Morrison AC, Post W, Psaty BM, Redline S, Rice KM, Rich SS, Rotter JI, Schnatz PF, Soliman EZ, Sotoodehnia N, Wong EK, Sabatine MS, Ruff CT, Lunetta KL, Ellinor PT, Lubitz SA. Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes. Nat Commun. 2022 Sep 30; 13(1):5767.View Related Profiles.

Benjamin, Emelia
Lunetta, Kathryn
Choi, Seung Hoan

PMID: 36180445; PMCID: PMC9525665; DOI: 10.1038/s41467-022-33534-z;

Halford JL, Morrill VN, Choi SH, Jurgens SJ, Melloni G, Marston NA, Weng LC, Nauffal V, Hall AW, Gunn S, Austin-Tse CA, Pirruccello JP, Khurshid S, Rehm HL, Benjamin EJ, Boerwinkle E, Brody JA, Correa A, Fornwalt BK, Gupta N, Haggerty CM, Harris S, Heckbert SR, Hong CC, Kooperberg C, Lin HJ, Loos RJF, Mitchell BD, Morrison AC, Post W, Psaty BM, Redline S, Rice KM, Rich SS, Rotter JI, Schnatz PF, Soliman EZ, Sotoodehnia N, Wong EK, Sabatine MS, Ruff CT, Lunetta KL, Ellinor PT, Lubitz SA. Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes. Nat Commun. 2022 Aug 30; 13(1):5106.View Related Profiles.

Benjamin, Emelia
Lunetta, Kathryn
Choi, Seung Hoan

PMID: 36042188; PMCID: PMC9427940; DOI: 10.1038/s41467-022-32009-5;

Nekoui M, Pirruccello JP, Di Achille P, Choi SH, Friedman SN, Nauffal V, Ng K, Batra P, Ho JE, Philippakis AA, Lubitz SA, Lindsay ME, Ellinor PT. Spatially Distinct Genetic Determinants of Aortic Dimensions Influence Risks of Aneurysm and Stenosis. J Am Coll Cardiol. 2022 Aug 02; 80(5):486-497. PMID: 35902171; PMCID: PMC11216157; DOI: 10.1016/j.jacc.2022.05.024;

Lazarte J, Jurgens SJ, Choi SH, Khurshid S, Morrill VN, Weng LC, Nauffal V, Pirruccello JP, Halford JL, Hegele RA, Ellinor PT, Lunetta KL, Lubitz SA. LMNA Variants and Risk of Adult-Onset Cardiac Disease. J Am Coll Cardiol. 2022 Jul 05; 80(1):50-59.View Related Profiles.

Lunetta, Kathryn
Choi, Seung Hoan

PMID: 35772917; PMCID: PMC11071053; DOI: 10.1016/j.jacc.2022.04.035;

Biddinger KJ, Jurgens SJ, Maamari D, Gaziano L, Choi SH, Morrill VN, Halford JL, Khera AV, Lubitz SA, Ellinor PT, Aragam KG. Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank. JAMA Cardiol. 2022 Jul 01; 7(7):715-722. PMID: 35583889; PMCID: PMC9118016; DOI: 10.1001/jamacardio.2022.1061;

Agrawal S, Wang M, Klarqvist MDR, Smith K, Shin J, Dashti H, Diamant N, Choi SH, Jurgens SJ, Ellinor PT, Philippakis A, Claussnitzer M, Ng K, Udler MS, Batra P, Khera AV. Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots. Nat Commun. 2022 Jun 30; 13(1):3771. PMID: 35773277; PMCID: PMC9247093; DOI: 10.1038/s41467-022-30931-2;

Nauffal V, Morrill VN, Jurgens SJ, Choi SH, Hall AW, Weng LC, Halford JL, Austin-Tse C, Haggerty CM, Harris SL, Wong EK, Alonso A, Arking DE, Benjamin EJ, Boerwinkle E, Min YI, Correa A, Fornwalt BK, Heckbert SR, Kooperberg C, Lin HJ, J F Loos R, Rice KM, Gupta N, Blackwell TW, Mitchell BD, Morrison AC, Psaty BM, Post WS, Redline S, Rehm HL, Rich SS, Rotter JI, Soliman EZ, Sotoodehnia N, Lunetta KL, Ellinor PT, Lubitz SA. Monogenic and Polygenic Contributions to QTc Prolongation in the Population. Circulation. 2022 May 17; 145(20):1524-1533.View Related Profiles.

Benjamin, Emelia
Lunetta, Kathryn
Choi, Seung Hoan

PMID: 35389749; PMCID: PMC9117504; DOI: 10.1161/CIRCULATIONAHA.121.057261;

Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škoric-Milosavljevic D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M, Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loeys B, Leenhardt A, Guicheney P, Maury P, Schulze-Bahr E, Robyns T, Breckpot J, Babuty D, Priori SG, Napolitano C, de Asmundis C, Brugada P, Brugada R, Arbelo E, Brugada J, Mabo P, Behar N, Giustetto C, Molina MS, Gimeno JR, Hasdemir C, Schwartz PJ, Crotti L, McKeown PP, Sharma S, Behr ER, Haissaguerre M, Sacher F, Rooryck C, Tan HL, Remme CA, Postema PG, Delmar M, Ellinor PT, Lubitz SA, Gourraud JB, Tanck MW, George AL, MacRae CA, Burridge PW, Dina C, Probst V, Wilde AA, Schott JJ, Redon R, Bezzina CR. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility. Nat Genet. 2022 Mar; 54(3):232-239. PMID: 35210625; PMCID: PMC9376964; DOI: 10.1038/s41588-021-01007-6;

Jurgens SJ, Choi SH, Morrill VN, Chaffin M, Pirruccello JP, Halford JL, Weng LC, Nauffal V, Roselli C, Hall AW, Oetjens MT, Lagerman B, vanMaanen DP, Aragam KG, Lunetta KL, Haggerty CM, Lubitz SA, Ellinor PT. Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank. Nat Genet. 2022 Mar; 54(3):240-250.View Related Profiles.

Lunetta, Kathryn
Choi, Seung Hoan

PMID: 35177841; PMCID: PMC8930703; DOI: 10.1038/s41588-021-01011-w;

Pirruccello JP, Chaffin MD, Chou EL, Fleming SJ, Lin H, Nekoui M, Khurshid S, Friedman SF, Bick AG, Arduini A, Weng LC, Choi SH, Akkad AD, Batra P, Tucker NR, Hall AW, Roselli C, Benjamin EJ, Vellarikkal SK, Gupta RM, Stegmann CM, Juric D, Stone JR, Vasan RS, Ho JE, Hoffmann U, Lubitz SA, Philippakis AA, Lindsay ME, Ellinor PT. Deep learning enables genetic analysis of the human thoracic aorta. Nat Genet. 2022 01; 54(1):40-51.View Related Profiles.

Benjamin, Emelia
Lin, Honghuang
Choi, Seung Hoan

PMID: 34837083; PMCID: PMC8758523; DOI: 10.1038/s41588-021-00962-4;

Choi SH, Jurgens SJ, Haggerty CM, Hall AW, Halford JL, Morrill VN, Weng LC, Lagerman B, Mirshahi T, Pettinger M, Guo X, Lin HJ, Alonso A, Soliman EZ, Kornej J, Lin H, Moscati A, Nadkarni GN, Brody JA, Wiggins KL, Cade BE, Lee J, Austin-Tse C, Blackwell T, Chaffin MD, Lee CJ, Rehm HL, Roselli C, Redline S, Mitchell BD, Sotoodehnia N, Psaty BM, Heckbert SR, Loos RJF, Vasan RS, Benjamin EJ, Correa A, Boerwinkle E, Arking DE, Rotter JI, Rich SS, Whitsel EA, Perez M, Kooperberg C, Fornwalt BK, Lunetta KL, Ellinor PT, Lubitz SA. Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis. Circ Genom Precis Med. 2021 08; 14(4):e003300.View Related Profiles.

Benjamin, Emelia
Lin, Honghuang
Lunetta, Kathryn
Choi, Seung Hoan

PMID: 34319147; PMCID: PMC8373440; DOI: 10.1161/CIRCGEN.120.003300;

Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAG, Corvelo A, Gogarten SM, Kang HM, Pitsillides AN, LeFaive J, Lee SB, Tian X, Browning BL, Das S, Emde AK, Clarke WE, Loesch DP, Shetty AC, Blackwell TW, Smith AV, Wong Q, Liu X, Conomos MP, Bobo DM, Aguet F, Albert C, Alonso A, Ardlie KG, Arking DE, Aslibekyan S, Auer PL, Barnard J, Barr RG, Barwick L, Becker LC, Beer RL, Benjamin EJ, Bielak LF, Blangero J, Boehnke M, Bowden DW, Brody JA, Burchard EG, Cade BE, Casella JF, Chalazan B, Chasman DI, Chen YI, Cho MH, Choi SH, Chung MK, Clish CB, Correa A, Curran JE, Custer B, Darbar D, Daya M, de Andrade M, DeMeo DL, Dutcher SK, Ellinor PT, Emery LS, Eng C, Fatkin D, Fingerlin T, Forer L, Fornage M, Franceschini N, Fuchsberger C, Fullerton SM, Germer S, Gladwin MT, Gottlieb DJ, Guo X, Hall ME, He J, Heard-Costa NL, Heckbert SR, Irvin MR, Johnsen JM, Johnson AD, Kaplan R, Kardia SLR, Kelly T, Kelly S, Kenny EE, Kiel DP, Klemmer R, Konkle BA, Kooperberg C, Köttgen A, Lange LA, Lasky-Su J, Levy D, Lin X, Lin KH, Liu C, Loos RJF, Garman L, Gerszten R, Lubitz SA, Lunetta KL, Mak ACY, Manichaikul A, Manning AK, Mathias RA, McManus DD, McGarvey ST, Meigs JB, Meyers DA, Mikulla JL, Minear MA, Mitchell BD, Mohanty S, Montasser ME, Montgomery C, Morrison AC, Murabito JM, Natale A, Natarajan P, Nelson SC, North KE, O'Connell JR, Palmer ND, Pankratz N, Peloso GM, Peyser PA, Pleiness J, Post WS, Psaty BM, Rao DC, Redline S, Reiner AP, Roden D, Rotter JI, Ruczinski I, Sarnowski C, Schoenherr S, Schwartz DA, Seo JS, Seshadri S, Sheehan VA, Sheu WH, Shoemaker MB, Smith NL, Smith JA, Sotoodehnia N, Stilp AM, Tang W, Taylor KD, Telen M, Thornton TA, Tracy RP, Van Den Berg DJ, Vasan RS, Viaud-Martinez KA, Vrieze S, Weeks DE, Weir BS, Weiss ST, Weng LC, Willer CJ, Zhang Y, Zhao X, Arnett DK, Ashley-Koch AE, Barnes KC, Boerwinkle E, Gabriel S, Gibbs R, Rice KM, Rich SS, Silverman EK, Qasba P, Gan W, Papanicolaou GJ, Nickerson DA, Browning SR, Zody MC, Zöllner S, Wilson JG, Cupples LA, Laurie CC, Jaquish CE, Hernandez RD, O'Connor TD, Abecasis GR. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021 02; 590(7845):290-299.View Related Profiles.

Liu, Chunyu
Benjamin, Emelia
Peloso, Gina
Murabito, Joanne
Lunetta, Kathryn
Cupples, L
Heard-Costa, Nancy
Choi, Seung Hoan
Seshadri, Sudha

PMID: 33568819; PMCID: PMC7875770; DOI: 10.1038/s41586-021-03205-y;

Nielsen JB, Rom O, Surakka I, Graham SE, Zhou W, Roychowdhury T, Fritsche LG, Gagliano Taliun SA, Sidore C, Liu Y, Gabrielsen ME, Skogholt AH, Wolford B, Overton W, Zhao Y, Chen J, Zhang H, Hornsby WE, Acheampong A, Grooms A, Schaefer A, Zajac GJM, Villacorta L, Zhang J, Brumpton B, Løset M, Rai V, Lundegaard PR, Olesen MS, Taylor KD, Palmer ND, Chen YD, Choi SH, Lubitz SA, Ellinor PT, Barnes KC, Daya M, Rafaels N, Weiss ST, Lasky-Su J, Tracy RP, Vasan RS, Cupples LA, Mathias RA, Yanek LR, Becker LC, Peyser PA, Bielak LF, Smith JA, Aslibekyan S, Hidalgo BA, Arnett DK, Irvin MR, Wilson JG, Musani SK, Correa A, Rich SS, Guo X, Rotter JI, Konkle BA, Johnsen JM, Ashley-Koch AE, Telen MJ, Sheehan VA, Blangero J, Curran JE, Peralta JM, Montgomery C, Sheu WH, Chung RH, Schwander K, Nouraie SM, Gordeuk VR, Zhang Y, Kooperberg C, Reiner AP, Jackson RD, Bleecker ER, Meyers DA, Li X, Das S, Yu K, LeFaive J, Smith A, Blackwell T, Taliun D, Zollner S, Forer L, Schoenherr S, Fuchsberger C, Pandit A, Zawistowski M, Kheterpal S, Brummett CM, Natarajan P, Schlessinger D, Lee S, Kang HM, Cucca F, Holmen OL, Åsvold BO, Boehnke M, Kathiresan S, Abecasis GR, Chen YE, Willer CJ, Hveem K. Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease. Nat Commun. 2020 12 18; 11(1):6417.View Related Profiles.

Cupples, L
Choi, Seung Hoan

PMID: 33339817; PMCID: PMC7749177; DOI: 10.1038/s41467-020-20086-3;

Halford JL, Weng LC, Choi SH, Jurgens SJ, Morrill VN, Khurshid S, Trinquart L, Benjamin EJ, Ellinor PT, Lubitz SA. Associations Between Alcohol Intake and Genetic Predisposition With Atrial Fibrillation Risk in a National Biobank. Circ Genom Precis Med. 2020 12; 13(6):e003111.View Related Profiles.

Benjamin, Emelia
Trinquart, Ludovic
Choi, Seung Hoan

PMID: 33156697; PMCID: PMC7738370; DOI: 10.1161/CIRCGEN.120.003111;

Folkersen L, Gustafsson S, Wang Q, Hansen DH, Hedman ÅK, Schork A, Page K, Zhernakova DV, Wu Y, Peters J, Eriksson N, Bergen SE, Boutin TS, Bretherick AD, Enroth S, Kalnapenkis A, Gådin JR, Suur BE, Chen Y, Matic L, Gale JD, Lee J, Zhang W, Quazi A, Ala-Korpela M, Choi SH, Claringbould A, Danesh J, Davey Smith G, de Masi F, Elmståhl S, Engström G, Fauman E, Fernandez C, Franke L, Franks PW, Giedraitis V, Haley C, Hamsten A, Ingason A, Johansson Å, Joshi PK, Lind L, Lindgren CM, Lubitz S, Palmer T, Macdonald-Dunlop E, Magnusson M, Melander O, Michaelsson K, Morris AP, Mägi R, Nagle MW, Nilsson PM, Nilsson J, Orho-Melander M, Polasek O, Prins B, Pålsson E, Qi T, Sjögren M, Sundström J, Surendran P, Võsa U, Werge T, Wernersson R, Westra HJ, Yang J, Zhernakova A, Ärnlöv J, Fu J, Smith JG, Esko T, Hayward C, Gyllensten U, Landen M, Siegbahn A, Wilson JF, Wallentin L, Butterworth AS, Holmes MV, Ingelsson E, Mälarstig A. Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals. Nat Metab. 2020 10; 2(10):1135-1148. PMID: 33067605; PMCID: PMC7611474; DOI: 10.1038/s42255-020-00287-2;

Weng LC, Hall AW, Choi SH, Jurgens SJ, Haessler J, Bihlmeyer NA, Grarup N, Lin H, Teumer A, Li-Gao R, Yao J, Guo X, Brody JA, Müller-Nurasyid M, Schramm K, Verweij N, van den Berg ME, van Setten J, Isaacs A, Ramírez J, Warren HR, Padmanabhan S, Kors JA, de Boer RA, van der Meer P, Sinner MF, Waldenberger M, Psaty BM, Taylor KD, Völker U, Kanters JK, Li M, Alonso A, Perez MV, Vaartjes I, Bots ML, Huang PL, Heckbert SR, Lin HJ, Kornej J, Munroe PB, van Duijn CM, Asselbergs FW, Stricker BH, van der Harst P, Kääb S, Peters A, Sotoodehnia N, Rotter JI, Mook-Kanamori DO, Dörr M, Felix SB, Linneberg A, Hansen T, Arking DE, Kooperberg C, Benjamin EJ, Lunetta KL, Ellinor PT, Lubitz SA. Genetic Determinants of Electrocardiographic P-Wave Duration and Relation to Atrial Fibrillation. Circ Genom Precis Med. 2020 10; 13(5):387-395.View Related Profiles.

Benjamin, Emelia
Lin, Honghuang
Lunetta, Kathryn
Choi, Seung Hoan

PMID: 32822252; PMCID: PMC7578098; DOI: 10.1161/CIRCGEN.119.002874;

Ntalla I, Weng LC, Cartwright JH, Hall AW, Sveinbjornsson G, Tucker NR, Choi SH, Chaffin MD, Roselli C, Barnes MR, Mifsud B, Warren HR, Hayward C, Marten J, Cranley JJ, Concas MP, Gasparini P, Boutin T, Kolcic I, Polasek O, Rudan I, Araujo NM, Lima-Costa MF, Ribeiro ALP, Souza RP, Tarazona-Santos E, Giedraitis V, Ingelsson E, Mahajan A, Morris AP, Del Greco M F, Foco L, Gögele M, Hicks AA, Cook JP, Lind L, Lindgren CM, Sundström J, Nelson CP, Riaz MB, Samani NJ, Sinagra G, Ulivi S, Kähönen M, Mishra PP, Mononen N, Nikus K, Caulfield MJ, Dominiczak A, Padmanabhan S, Montasser ME, O'Connell JR, Ryan K, Shuldiner AR, Aeschbacher S, Conen D, Risch L, Thériault S, Hutri-Kähönen N, Lehtimäki T, Lyytikäinen LP, Raitakari OT, Barnes CLK, Campbell H, Joshi PK, Wilson JF, Isaacs A, Kors JA, van Duijn CM, Huang PL, Gudnason V, Harris TB, Launer LJ, Smith AV, Bottinger EP, Loos RJF, Nadkarni GN, Preuss MH, Correa A, Mei H, Wilson J, Meitinger T, Müller-Nurasyid M, Peters A, Waldenberger M, Mangino M, Spector TD, Rienstra M, van de Vegte YJ, van der Harst P, Verweij N, Kääb S, Schramm K, Sinner MF, Strauch K, Cutler MJ, Fatkin D, London B, Olesen M, Roden DM, Benjamin Shoemaker M, Gustav Smith J, Biggs ML, Bis JC, Brody JA, Psaty BM, Rice K, Sotoodehnia N, De Grandi A, Fuchsberger C, Pattaro C, Pramstaller PP, Ford I, Wouter Jukema J, Macfarlane PW, Trompet S, Dörr M, Felix SB, Völker U, Weiss S, Havulinna AS, Jula A, Sääksjärvi K, Salomaa V, Guo X, Heckbert SR, Lin HJ, Rotter JI, Taylor KD, Yao J, de Mutsert R, Maan AC, Mook-Kanamori DO, Noordam R, Cucca F, Ding J, Lakatta EG, Qian Y, Tarasov KV, Levy D, Lin H, Newton-Cheh CH, Lunetta KL, Murray AD, Porteous DJ, Smith BH, Stricker BH, Uitterlinden A, van den Berg ME, Haessler J, Jackson RD, Kooperberg C, Peters U, Reiner AP, Whitsel EA, Alonso A, Arking DE, Boerwinkle E, Ehret GB, Soliman EZ, Avery CL, Gogarten SM, Kerr KF, Laurie CC, Seyerle AA, Stilp A, Assa S, Abdullah Said M, Yldau van der Ende M, Lambiase PD, Orini M, Ramirez J, Van Duijvenboden S, Arnar DO, Gudbjartsson DF, Holm H, Sulem P, Thorleifsson G, Thorolfsdottir RB, Thorsteinsdottir U, Benjamin EJ, Tinker A, Stefansson K, Ellinor PT, Jamshidi Y, Lubitz SA, Munroe PB. Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction. Nat Commun. 2020 05 21; 11(1):2542.View Related Profiles.

Benjamin, Emelia
Lin, Honghuang
Lunetta, Kathryn
Choi, Seung Hoan

PMID: 32439900; PMCID: PMC7242331; DOI: 10.1038/s41467-020-15706-x;

Tucker NR, Chaffin M, Fleming SJ, Hall AW, Parsons VA, Bedi KC, Akkad AD, Herndon CN, Arduini A, Papangeli I, Roselli C, Aguet F, Choi SH, Ardlie KG, Babadi M, Margulies KB, Stegmann CM, Ellinor PT. Transcriptional and Cellular Diversity of the Human Heart. Circulation. 2020 08 04; 142(5):466-482. PMID: 32403949; PMCID: PMC7666104; DOI: 10.1161/CIRCULATIONAHA.119.045401;

Pirruccello JP, Bick A, Chaffin M, Aragam KG, Choi SH, Lubitz SA, Ho CY, Ng K, Philippakis A, Ellinor PT, Kathiresan S, Khera AV. Titin Truncating Variants in Adults Without Known Congestive Heart Failure. J Am Coll Cardiol. 2020 03 17; 75(10):1239-1241. PMID: 32164899; PMCID: PMC7433750; DOI: 10.1016/j.jacc.2020.01.013;

Wang EY, Hulme OL, Khurshid S, Weng LC, Choi SH, Walkey AJ, Ashburner JM, McManus DD, Singer DE, Atlas SJ, Benjamin EJ, Ellinor PT, Trinquart L, Lubitz SA. Initial Precipitants and Recurrence of Atrial Fibrillation. Circ Arrhythm Electrophysiol. 2020 03; 13(3):e007716.View Related Profiles.

Walkey, Allan
Benjamin, Emelia
Trinquart, Ludovic
Choi, Seung Hoan

PMID: 32078361; PMCID: PMC7141776; DOI: 10.1161/CIRCEP.119.007716;

Kowalski MH, Qian H, Hou Z, Rosen JD, Tapia AL, Shan Y, Jain D, Argos M, Arnett DK, Avery C, Barnes KC, Becker LC, Bien SA, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Buyske S, Cai J, Cho MH, Choi SH, Choquet H, Cupples LA, Cushman M, Daya M, de Vries PS, Ellinor PT, Faraday N, Fornage M, Gabriel S, Ganesh SK, Graff M, Gupta N, He J, Heckbert SR, Hidalgo B, Hodonsky CJ, Irvin MR, Johnson AD, Jorgenson E, Kaplan R, Kardia SLR, Kelly TN, Kooperberg C, Lasky-Su JA, Loos RJF, Lubitz SA, Mathias RA, McHugh CP, Montgomery C, Moon JY, Morrison AC, Palmer ND, Pankratz N, Papanicolaou GJ, Peralta JM, Peyser PA, Rich SS, Rotter JI, Silverman EK, Smith JA, Smith NL, Taylor KD, Thornton TA, Tiwari HK, Tracy RP, Wang T, Weiss ST, Weng LC, Wiggins KL, Wilson JG, Yanek LR, Zöllner S, North KE, Auer PL, Raffield LM, Reiner AP, Li Y. Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations. PLoS Genet. 2019 12; 15(12):e1008500.View Related Profiles.

Cupples, L
Argos, Maria
Choi, Seung Hoan

PMID: 31869403; PMCID: PMC6953885; DOI: 10.1371/journal.pgen.1008500;

Choi SH, Jurgens SJ, Weng LC, Pirruccello JP, Roselli C, Chaffin M, Lee CJ, Hall AW, Khera AV, Lunetta KL, Lubitz SA, Ellinor PT. Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results From a National Biobank. Circ Res. 2020 01 17; 126(2):200-209.View Related Profiles.

Lunetta, Kathryn
Choi, Seung Hoan

PMID: 31691645; PMCID: PMC7007701; DOI: 10.1161/CIRCRESAHA.119.315686;

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujic-Comic H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Uitterlinden AGA, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, et al. Author CoView Related Profiles.

Beiser, Alexa
DeStefano, Anita
McKee, Ann
Sarnowski, Chloe
Jun, Gyungah
Himali, Jayandra
Lunetta, Kathryn
Cupples, L
Farrer, Lindsay
Kowall, Neil
Yang, Qiong
Stern, Robert
Choi, Seung Hoan
Seshadri, Sudha

PMID: 31417202; PMCID: PMC7265117; DOI: 10.1038/s41588-019-0495-7;

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujic-Comic H, Frosch MP, Thonberg H, Maier W, Roschupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Andre Uitterlinden AG, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, et al. GenetView Related Profiles.

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DeStefano, Anita
McKee, Ann
Sarnowski, Chloe
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Himali, Jayandra
Lunetta, Kathryn
Cupples, L
Farrer, Lindsay
Kowall, Neil
Yang, Qiong
Stern, Robert
Choi, Seung Hoan
Seshadri, Sudha

PMID: 30820047; PMCID: PMC6463297; DOI: 10.1038/s41588-019-0358-2;

Choi SH, Weng LC, Roselli C, Lin H, Haggerty CM, Shoemaker MB, Barnard J, Arking DE, Chasman DI, Albert CM, Chaffin M, Tucker NR, Smith JD, Gupta N, Gabriel S, Margolin L, Shea MA, Shaffer CM, Yoneda ZT, Boerwinkle E, Smith NL, Silverman EK, Redline S, Vasan RS, Burchard EG, Gogarten SM, Laurie C, Blackwell TW, Abecasis G, Carey DJ, Fornwalt BK, Smelser DT, Baras A, Dewey FE, Jaquish CE, Papanicolaou GJ, Sotoodehnia N, Van Wagoner DR, Psaty BM, Kathiresan S, Darbar D, Alonso A, Heckbert SR, Chung MK, Roden DM, Benjamin EJ, Murray MF, Lunetta KL, Lubitz SA, Ellinor PT. Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation. JAMA. 2018 12 11; 320(22):2354-2364.View Related Profiles.

Benjamin, Emelia
Lin, Honghuang
Lunetta, Kathryn
Choi, Seung Hoan

PMID: 30535219; PMCID: PMC6436530; DOI: 10.1001/jama.2018.18179;

Pulit SL, Weng LC, McArdle PF, Trinquart L, Choi SH, Mitchell BD, Rosand J, de Bakker PIW, Benjamin EJ, Ellinor PT, Kittner SJ, Lubitz SA, Anderson CD. Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes. Neurol Genet. 2018 Dec; 4(6):e293.View Related Profiles.

Benjamin, Emelia
Trinquart, Ludovic
Choi, Seung Hoan

PMID: 30584597; PMCID: PMC6283455; DOI: 10.1212/NXG.0000000000000293;

Aragam KG, Chaffin M, Levinson RT, McDermott G, Choi SH, Shoemaker MB, Haas ME, Weng LC, Lindsay ME, Smith JG, Newton-Cheh C, Roden DM, London B, Wells QS, Ellinor PT, Kathiresan S, Lubitz SA. Phenotypic Refinement of Heart Failure in a National Biobank Facilitates Genetic Discovery. Circulation. 2019 Jan 22; 139(4):489-501. PMID: 30586722; PMCID: PMC6511334; DOI: 10.1161/CIRCULATIONAHA.118.035774;

Khera AV, Chaffin M, Aragam KG, Haas ME, Roselli C, Choi SH, Natarajan P, Lander ES, Lubitz SA, Ellinor PT, Kathiresan S. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet. 2018 09; 50(9):1219-1224. PMID: 30104762; PMCID: PMC6128408; DOI: 10.1038/s41588-018-0183-z;

Khurshid S, Choi SH, Weng LC, Wang EY, Trinquart L, Benjamin EJ, Ellinor PT, Lubitz SA. Frequency of Cardiac Rhythm Abnormalities in a Half Million Adults. Circ Arrhythm Electrophysiol. 2018 07; 11(7):e006273.View Related Profiles.

Benjamin, Emelia
Trinquart, Ludovic
Choi, Seung Hoan

PMID: 29954742; PMCID: PMC6051725; DOI: 10.1161/CIRCEP.118.006273;

Roselli C, Chaffin MD, Weng LC, Aeschbacher S, Ahlberg G, Albert CM, Almgren P, Alonso A, Anderson CD, Aragam KG, Arking DE, Barnard J, Bartz TM, Benjamin EJ, Bihlmeyer NA, Bis JC, Bloom HL, Boerwinkle E, Bottinger EB, Brody JA, Calkins H, Campbell A, Cappola TP, Carlquist J, Chasman DI, Chen LY, Chen YI, Choi EK, Choi SH, Christophersen IE, Chung MK, Cole JW, Conen D, Cook J, Crijns HJ, Cutler MJ, Damrauer SM, Daniels BR, Darbar D, Delgado G, Denny JC, Dichgans M, Dörr M, Dudink EA, Dudley SC, Esa N, Esko T, Eskola M, Fatkin D, Felix SB, Ford I, Franco OH, Geelhoed B, Grewal RP, Gudnason V, Guo X, Gupta N, Gustafsson S, Gutmann R, Hamsten A, Harris TB, Hayward C, Heckbert SR, Hernesniemi J, Hocking LJ, Hofman A, Horimoto ARVR, Huang J, Huang PL, Huffman J, Ingelsson E, Ipek EG, Ito K, Jimenez-Conde J, Johnson R, Jukema JW, Kääb S, Kähönen M, Kamatani Y, Kane JP, Kastrati A, Kathiresan S, Katschnig-Winter P, Kavousi M, Kessler T, Kietselaer BL, Kirchhof P, Kleber ME, Knight S, Krieger JE, Kubo M, Launer LJ, Laurikka J, Lehtimäki T, Leineweber K, Lemaitre RN, Li M, Lim HE, Lin HJ, Lin H, Lind L, Lindgren CM, Lokki ML, London B, Loos RJF, Low SK, Lu Y, Lyytikäinen LP, Macfarlane PW, Magnusson PK, Mahajan A, Malik R, Mansur AJ, Marcus GM, Margolin L, Margulies KB, März W, McManus DD, Melander O, Mohanty S, Montgomery JA, Morley MP, Morris AP, Müller-Nurasyid M, Natale A, Nazarian S, Neumann B, Newton-Cheh C, Niemeijer MN, Nikus K, Nilsson P, Noordam R, Oellers H, Olesen MS, Orho-Melander M, Padmanabhan S, Pak HN, Paré G, Pedersen NL, Pera J, Pereira A, Porteous D, Psaty BM, Pulit SL, Pullinger CR, Rader DJ, Refsgaard L, Ribasés M, Ridker PM, Rienstra M, Risch L, Roden DM, Rosand J, Rosenberg MA, Rost N, Rotter JI, Saba S, Sandhu RK, Schnabel RB, Schramm K, Schunkert H, Schurman C, Scott SA, Seppälä I, Shaffer C, Shah S, Shalaby AA, Shim J, Shoemaker MB, Siland JE, Sinisalo J, Sinner MF, Slowik A, Smith AV, Smith BH, Smith JG, Smith JD, Smith NL, Soliman EZ, Sotoodehnia N, Stricker BH, Sun A, Sun H, Svendsen JH, Tanaka T, Tanriverdi K, Taylor KD, Teder-Laving M, Teumer A, Thériault S, Trompet S, Tucker NR, Tveit A, Uitterlinden AG, Van Der Harst P, Van Gelder IC, Van Wagoner DR, Verweij N, Vlachopoulou E, Völker U, Wang B, Weeke PE, Weijs B, Weiss R, Weiss S, Wells QS, Wiggins KL, Wong JA, Woo D, Worrall BB, Yang PS, Yao J, Yoneda ZT, Zeller T, Zeng L, Lubitz SA, Lunetta KL, Ellinor PT. Multi-ethnic genome-wide association study for atrial fibrillation. Nat Genet. 2018 06 11; 50(9):1225-1233.View Related Profiles.

Wang, Biqi
Benjamin, Emelia
Lin, Honghuang
Lunetta, Kathryn
Choi, Seung Hoan

PMID: 29892015; PMCID: PMC6136836; DOI: 10.1038/s41588-018-0133-9;

Naj AC, Lin H, Vardarajan BN, White S, Lancour D, Ma Y, Schmidt M, Sun F, Butkiewicz M, Bush WS, Kunkle BW, Malamon J, Amin N, Choi SH, Hamilton-Nelson KL, van der Lee SJ, Gupta N, Koboldt DC, Saad M, Wang B, Nato AQ, Sohi HK, Kuzma A, Wang LS, Cupples LA, van Duijn C, Seshadri S, Schellenberg GD, Boerwinkle E, Bis JC, Dupuis J, Salerno WJ, Wijsman EM, Martin ER, DeStefano AL. Quality control and integration of genotypes from two calling pipelines for whole genome sequence data in the Alzheimer's disease sequencing project. Genomics. 2019 07; 111(4):808-818.View Related Profiles.

DeStefano, Anita
Lin, Honghuang
Dupuis, Josee
Cupples, L
Choi, Seung Hoan
Seshadri, Sudha

PMID: 29857119; PMCID: PMC6397097; DOI: 10.1016/j.ygeno.2018.05.004;

Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese AK, van der Laan SW, Gretarsdottir S, Anderson CD, Chong M, Adams HHH, Ago T, Almgren P, Amouyel P, Ay H, Bartz TM, Benavente OR, Bevan S, Boncoraglio GB, Brown RD, Butterworth AS, Carrera C, Carty CL, Chasman DI, Chen WM, Cole JW, Correa A, Cotlarciuc I, Cruchaga C, Danesh J, de Bakker PIW, DeStefano AL, den Hoed M, Duan Q, Engelter ST, Falcone GJ, Gottesman RF, Grewal RP, Gudnason V, Gustafsson S, Haessler J, Harris TB, Hassan A, Havulinna AS, Heckbert SR, Holliday EG, Howard G, Hsu FC, Hyacinth HI, Ikram MA, Ingelsson E, Irvin MR, Jian X, Jiménez-Conde J, Johnson JA, Jukema JW, Kanai M, Keene KL, Kissela BM, Kleindorfer DO, Kooperberg C, Kubo M, Lange LA, Langefeld CD, Langenberg C, Launer LJ, Lee JM, Lemmens R, Leys D, Lewis CM, Lin WY, Lindgren AG, Lorentzen E, Magnusson PK, Maguire J, Manichaikul A, McArdle PF, Meschia JF, Mitchell BD, Mosley TH, Nalls MA, Ninomiya T, O'Donnell MJ, Psaty BM, Pulit SL, Rannikmäe K, Reiner AP, Rexrode KM, Rice K, Rich SS, Ridker PM, Rost NS, Rothwell PM, Rotter JI, Rundek T, Sacco RL, Sakaue S, Sale MM, Salomaa V, Sapkota BR, Schmidt R, Schmidt CO, Schminke U, Sharma P, Slowik A, Sudlow CLM, Tanislav C, Tatlisumak T, Taylor KD, Thijs VNS, Thorleifsson G, Thorsteinsdottir U, Tiedt S, Trompet S, Tzourio C, van Duijn CM, Walters M, Wareham NJ, Wassertheil-Smoller S, Wilson JG, Wiggins KL, Yang Q, Yusuf S, Bis JC, Pastinen T, Ruusalepp A, Schadt EE, Koplev S, Björkegren JLM, Codoni V, Civelek M, Smith NL, Trégouët DA, Christophersen IE, Roselli C, Lubitz SA, Ellinor PT, Tai ES, Kooner JS, Kato N, He J, van der Harst P, Elliott P, Chambers JC, Takeuchi F, Johnson AD, Sanghera DK, Melander O, Jern C, Strbian D, Fernandez-Cadenas I, Longstreth WT, Rolfs A, Hata J, Woo D, Rosand J, Pare G, Hopewell JC, Saleheen D, Stefansson K, Worrall BB, Kittner SJ, Seshadri S, Fornage M, Markus HS, Howson JMM, Kamatani Y, Debette S, Dichgans M, Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese AK, van der Laan SW, Gretarsdottir S, Anderson CD, Chong M, Adams HHH, Ago T, Almgren P, Amouyel P, Ay H, Bartz TM, Benavente OR, Bevan S, Boncoraglio GB, Brown RD, Butterworth AS, Carrera C, Carty CL, Chasman DI, Chen WM, Cole JW, Correa A, Cotlarciuc I, Cruchaga C, Danesh J, de Bakker PIW, DeStefano AL, Hoed MD, Duan Q, Engelter ST, Falcone GJ, Gottesman RF, Grewal RP, Gudnason V, Gustafsson S, Haessler J, Harris TB, Hassan A, Havulinna AS, Heckbert SR, Holliday EG, Howard G, Hsu FC, Hyacinth HI, Ikram MA, Ingelsson E, Irvin MR, Jian X, Jiménez-Conde J, Johnson JA, Jukema JW, Kanai M, Keene KL, Kissela BM, Kleindorfer DO, Kooperberg C, Kubo M, Lange LA, Langefeld CD, Langenberg C, Launer LJ, Lee JM, Lemmens R, Leys D, Lewis CM, Lin WY, Lindgren AG, Lorentzen E, Magnusson PK, Maguire J, Manichaikul A, McArdle PF, Meschia JF, Mitchell BD, Mosley TH, Nalls MA, Ninomiya T, O'Donnell MJ, Psaty BM, Pulit SL, Rannikmäe K, Reiner AP, Rexrode KM, Rice K, Rich SS, Ridker PM, Rost NS, Rothwell PM, Rotter JI, Rundek T, Sacco RL, Sakaue S, Sale MM, Salomaa V, Sapkota BR, Schmidt R, Schmidt CO, Schminke U, Sharma P, Slowik A, Sudlow CLM, Tanislav C, Tatlisumak T, Taylor KD, Thijs VNS, Thorleifsson G, Thorsteinsdottir U, Tiedt S, Trompet S, Tzourio C, van Duijn CM, Walters M, Wareham NJ, Wassertheil-Smoller S, Wilson JG, Wiggins KL, Yang Q, Yusuf S, Amin N, Aparicio HS, Arnett DK, Attia J, Beiser AS, Berr C, Buring JE, Bustamante M, Caso V, Cheng YC, Choi SH, Chowhan A, Cullell N, Dartigues JF, Delavaran H, Delgado P, Dörr M, Engström G, Ford I, Gurpreet WS, Hamsten A, Heitsch L, Hozawa A, Ibanez L, Ilinca A, Ingelsson M, Iwasaki M, Jackson RD, Jood K, Jousilahti P, Kaffashian S, Kalra L, Kamouchi M, Kitazono T, Kjartansson O, Kloss M, Koudstaal PJ, Krupinski J, Labovitz DL, Laurie CC, Levi CR, Li L, Lind L, Lindgren CM, Lioutas V, Liu YM, Lopez OL, Makoto H, Martinez-Majander N, Matsuda K, et al. MultianView Related Profiles.

Beiser, Alexa
DeStefano, Anita
Satizabal, Claudia
Romero, Jose
Buring, Julie
Yang, Qiong
Choi, Seung Hoan
Seshadri, Sudha

PMID: 29531354; PMCID: PMC5968830; DOI: 10.1038/s41588-018-0058-3;

Labadorf A, Choi SH, Myers RH. Evidence for a Pan-Neurodegenerative Disease Response in Huntington's and Parkinson's Disease Expression Profiles. Front Mol Neurosci. 2017; 10:430.View Related Profiles.

Labadorf, Adam
Myers, Richard
Choi, Seung Hoan

PMID: 29375298; PMCID: PMC5768647; DOI: 10.3389/fnmol.2017.00430;

Weng LC, Choi SH, Klarin D, Smith JG, Loh PR, Chaffin M, Roselli C, Hulme OL, Lunetta KL, Dupuis J, Benjamin EJ, Newton-Cheh C, Kathiresan S, Ellinor PT, Lubitz SA. Heritability of Atrial Fibrillation. Circ Cardiovasc Genet. 2017 Dec; 10(6).View Related Profiles.

Benjamin, Emelia
Dupuis, Josee
Lunetta, Kathryn
Choi, Seung Hoan

PMID: 29237688; PMCID: PMC5966046; DOI: 10.1161/CIRCGENETICS.117.001838;

Weng LC, Preis SR, Hulme OL, Larson MG, Choi SH, Wang B, Trinquart L, McManus DD, Staerk L, Lin H, Lunetta KL, Ellinor PT, Benjamin EJ, Lubitz SA. Genetic Predisposition, Clinical Risk Factor Burden, and Lifetime Risk of Atrial Fibrillation. Circulation. 2018 03 06; 137(10):1027-1038.View Related Profiles.

Wang, Biqi
Benjamin, Emelia
Lin, Honghuang
Lunetta, Kathryn
Trinquart, Ludovic
Larson, Martin
Preis, Sarah
Choi, Seung Hoan

PMID: 29129827; PMCID: PMC5840011; DOI: 10.1161/CIRCULATIONAHA.117.031431;

Beecham GW, Bis JC, Martin ER, Choi SH, DeStefano AL, van Duijn CM, Fornage M, Gabriel SB, Koboldt DC, Larson DE, Naj AC, Psaty BM, Salerno W, Bush WS, Foroud TM, Wijsman E, Farrer LA, Goate A, Haines JL, Pericak-Vance MA, Boerwinkle E, Mayeux R, Seshadri S, Schellenberg G. The Alzheimer's Disease Sequencing Project: Study design and sample selection. Neurol Genet. 2017 Oct; 3(5):e194.View Related Profiles.

DeStefano, Anita
Farrer, Lindsay
Choi, Seung Hoan
Seshadri, Sudha

PMID: 29184913; PMCID: PMC5646177; DOI: 10.1212/NXG.0000000000000194;

Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Adams PM, Leber M, Chen Y, Albert MS, Riedel-Heller S, Emilsson V, Beekly D, Braae A, Schmidt R, Blacker D, Masullo C, Schmidt H, Doody RS, Spalletta G, Jr WTL, Fairchild TJ, Bossù P, Lopez OL, Frosch MP, Sacchinelli E, Ghetti B, Yang Q, Huebinger RM, Jessen F, Li S, Kamboh MI, Morris J, Sotolongo-Grau O, Katz MJ, Corcoran C, Dunstan M, Braddel A, Thomas C, Meggy A, Marshall R, Gerrish A, Chapman J, Aguilar M, Taylor S, Hill M, Fairén MD, Hodges A, Vellas B, Soininen H, Kloszewska I, Daniilidou M, Uphill J, Patel Y, Hughes JT, Lord J, Turton J, Hartmann AM, Cecchetti R, Fenoglio C, Serpente M, Arcaro M, Caltagirone C, Orfei MD, Ciaramella A, Pichler S, Mayhaus M, Gu W, Lleó A, Fortea J, Blesa R, Barber IS, Brookes K, Cupidi C, Maletta RG, Carrell D, Sorbi S, Moebus S, Urbano M, Pilotto A, Kornhuber J, Bosco P, Todd S, Craig D, Johnston J, Gill M, Lawlor B, Lynch A, Fox NC, Hardy J, Albin RL, Apostolova LG, Arnold SE, Asthana S, Atwood CS, Baldwin CT, Barnes LL, Barral S, Beach TG, Becker JT, Bigio EH, Bird TD, Boeve BF, Bowen JD, Boxer A, Burke JR, Burns JM, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carlsson CM, Carney RM, Carrasquillo MM, Carroll SL, Diaz CC, Chui HC, Clark DG, Cribbs DH, Crocco EA, DeCarli C, Dick M, Duara R, Evans DA, Faber KM, Fallon KB, Fardo DW, Farlow MR, Ferris S, Foroud TM, Galasko DR, Gearing M, Geschwind DH, Gilbert JR, Graff-Radford NR, Green RC, Growdon JH, Hamilton RL, Harrell LE, Honig LS, Huentelman MJ, Hulette CM, Hyman BT, Jarvik GP, Abner E, Jin LW, Jun G, Karydas A, Kaye JA, Kim R, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lunetta KL, Lyketsos CG, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Morris JC, Murrell JR, Myers AJ, O'Bryant S, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Perry W, Peskind E, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rogaeva E, Rosen HJ, Rosenberg RN, Sager MA, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Garzia F, Golamaully F, Septier G, Engelborghs S, Vandenberghe R, De Deyn PP, Fernadez CM, Benito YA, Thonberg H, Forsell C, Lilius L, Kinhult-Stählbom A, Kilander L, Brundin R, Concari L, Helisalmi S, Koivisto AM, Haapasalo A, Dermecourt V, Fievet N, Hanon O, Dufouil C, Brice A, Ritchie K, Dubois B, Himali JJ, Keene CD, Tschanz J, Fitzpatrick AL, Kukull WA, Norton M, Aspelund T, Larson EB, Munger R, Rotter JI, Lipton RB, et al. RarView Related Profiles.

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DeStefano, Anita
McKee, Ann
O'Donnell, Christopher
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Jun, Gyungah
Lin, Honghuang
Himali, Jayandra
Dupuis, Josee
Lunetta, Kathryn
Cupples, L
Farrer, Lindsay
Kowall, Neil
Yang, Qiong
Stern, Robert
Choi, Seung Hoan
Seshadri, Sudha

PMID: 28714976; PMCID: PMC5669039; DOI: 10.1038/ng.3916;

Christophersen IE, Rienstra M, Roselli C, Yin X, Geelhoed B, Barnard J, Lin H, Arking DE, Smith AV, Albert CM, Chaffin M, Tucker NR, Li M, Klarin D, Bihlmeyer NA, Low SK, Weeke PE, Müller-Nurasyid M, Smith JG, Brody JA, Niemeijer MN, Dörr M, Trompet S, Huffman J, Gustafsson S, Schurmann C, Kleber ME, Lyytikäinen LP, Seppälä I, Malik R, Horimoto ARVR, Perez M, Sinisalo J, Aeschbacher S, Thériault S, Yao J, Radmanesh F, Weiss S, Teumer A, Choi SH, Weng LC, Clauss S, Deo R, Rader DJ, Shah SH, Sun A, Hopewell JC, Debette S, Chauhan G, Yang Q, Worrall BB, Paré G, Kamatani Y, Hagemeijer YP, Verweij N, Siland JE, Kubo M, Smith JD, Van Wagoner DR, Bis JC, Perz S, Psaty BM, Ridker PM, Magnani JW, Harris TB, Launer LJ, Shoemaker MB, Padmanabhan S, Haessler J, Bartz TM, Waldenberger M, Lichtner P, Arendt M, Krieger JE, Kähönen M, Risch L, Mansur AJ, Peters A, Smith BH, Lind L, Scott SA, Lu Y, Bottinger EB, Hernesniemi J, Lindgren CM, Wong JA, Huang J, Eskola M, Morris AP, Ford I, Reiner AP, Delgado G, Chen LY, Chen YI, Sandhu RK, Li M, Boerwinkle E, Eisele L, Lannfelt L, Rost N, Anderson CD, Taylor KD, Campbell A, Magnusson PK, Porteous D, Hocking LJ, Vlachopoulou E, Pedersen NL, Nikus K, Orho-Melander M, Hamsten A, Heeringa J, Denny JC, Kriebel J, Darbar D, Newton-Cheh C, Shaffer C, Macfarlane PW, Heilmann-Heimbach S, Almgren P, Huang PL, Sotoodehnia N, Soliman EZ, Uitterlinden AG, Hofman A, Franco OH, Völker U, Jöckel KH, Sinner MF, Lin HJ, Guo X, Dichgans M, Ingelsson E, Kooperberg C, Melander O, Loos RJF, Laurikka J, Conen D, Rosand J, van der Harst P, Lokki ML, Kathiresan S, Pereira A, Jukema JW, Hayward C, Rotter JI, März W, Lehtimäki T, Stricker BH, Chung MK, Felix SB, Gudnason V, Alonso A, Roden DM, Kääb S, Chasman DI, Heckbert SR, Benjamin EJ, Tanaka T, Lunetta KL, Lubitz SA, Ellinor PT. Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. Nat Genet. 2017 Jun; 49(6):946-952.View Related Profiles.

Benjamin, Emelia
Lin, Honghuang
Lunetta, Kathryn
Yang, Qiong
Choi, Seung Hoan

PMID: 28416818; PMCID: PMC5585859; DOI: 10.1038/ng.3843;

Choi SH, Labadorf AT, Myers RH, Lunetta KL, Dupuis J, DeStefano AL. Evaluation of logistic regression models and effect of covariates for case-control study in RNA-Seq analysis. BMC Bioinformatics. 2017 Feb 06; 18(1):91.View Related Profiles.

Labadorf, Adam
DeStefano, Anita
Dupuis, Josee
Lunetta, Kathryn
Myers, Richard
Choi, Seung Hoan

PMID: 28166718; PMCID: PMC5294900; DOI: 10.1186/s12859-017-1498-y;

Jakobsdottir J, van der Lee SJ, Bis JC, Chouraki V, Li-Kroeger D, Yamamoto S, Grove ML, Naj A, Vronskaya M, Salazar JL, DeStefano AL, Brody JA, Smith AV, Amin N, Sims R, Ibrahim-Verbaas CA, Choi SH, Satizabal CL, Lopez OL, Beiser A, Ikram MA, Garcia ME, Hayward C, Varga TV, Ripatti S, Franks PW, Hallmans G, Rolandsson O, Jansson JH, Porteous DJ, Salomaa V, Eiriksdottir G, Rice KM, Bellen HJ, Levy D, Uitterlinden AG, Emilsson V, Rotter JI, Aspelund T, O'Donnell CJ, Fitzpatrick AL, Launer LJ, Hofman A, Wang LS, Williams J, Schellenberg GD, Boerwinkle E, Psaty BM, Seshadri S, Shulman JM, Gudnason V, van Duijn CM. Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. PLoS Genet. 2016 Oct; 12(10):e1006327.View Related Profiles.

Beiser, Alexa
DeStefano, Anita
O'Donnell, Christopher
Satizabal, Claudia
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Seshadri, Sudha

PMID: 27764101; PMCID: PMC5072721; DOI: 10.1371/journal.pgen.1006327;

Pitsillides AN, Choi SH, Hogan JD, Hong J, Lin H. Association of genetic variations and gene expression in a family-based study. BMC Proc. 2016; 10(Suppl 7):109-112.View Related Profiles.

Lin, Honghuang
Choi, Seung Hoan

PMID: 27980620; PMCID: PMC5133483; DOI: 10.1186/s12919-016-0014-0;

Chouraki V, Reitz C, Maury F, Bis JC, Bellenguez C, Yu L, Jakobsdottir J, Mukherjee S, Adams HH, Choi SH, Larson EB, Fitzpatrick A, Uitterlinden AG, de Jager PL, Hofman A, Gudnason V, Vardarajan B, Ibrahim-Verbaas C, van der Lee SJ, Lopez O, Dartigues JF, Berr C, Amouyel P, Bennett DA, van Duijn C, DeStefano AL, Launer LJ, Ikram MA, Crane PK, Lambert JC, Mayeux R, Seshadri S. Evaluation of a Genetic Risk Score to Improve Risk Prediction for Alzheimer's Disease. J Alzheimers Dis. 2016 Jun 18; 53(3):921-32.View Related Profiles.

DeStefano, Anita
Choi, Seung Hoan
Seshadri, Sudha

PMID: 27340842; PMCID: PMC5036102; DOI: 10.3233/JAD-150749;

Choi SH, Ruggiero D, Sorice R, Song C, Nutile T, Vernon Smith A, Concas MP, Traglia M, Barbieri C, Ndiaye NC, Stathopoulou MG, Lagou V, Maestrale GB, Sala C, Debette S, Kovacs P, Lind L, Lamont J, Fitzgerald P, Tönjes A, Gudnason V, Toniolo D, Pirastu M, Bellenguez C, Vasan RS, Ingelsson E, Leutenegger AL, Johnson AD, DeStefano AL, Visvikis-Siest S, Seshadri S, Ciullo M. Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies. PLoS Genet. 2016 Feb; 12(2):e1005874.View Related Profiles.

Johnson, Andrew
DeStefano, Anita
Choi, Seung Hoan
Seshadri, Sudha
Ramachandran, Vasan

PMID: 26910538; PMCID: PMC4766012; DOI: 10.1371/journal.pgen.1005874;

Desikan RS, Schork AJ, Wang Y, Thompson WK, Dehghan A, Ridker PM, Chasman DI, McEvoy LK, Holland D, Chen CH, Karow DS, Brewer JB, Hess CP, Williams J, Sims R, O'Donovan MC, Choi SH, Bis JC, Ikram MA, Gudnason V, DeStefano AL, van der Lee SJ, Psaty BM, van Duijn CM, Launer L, Seshadri S, Pericak-Vance MA, Mayeux R, Haines JL, Farrer LA, Hardy J, Ulstein ID, Aarsland D, Fladby T, White LR, Sando SB, Rongve A, Witoelar A, Djurovic S, Hyman BT, Snaedal J, Steinberg S, Stefansson H, Stefansson K, Schellenberg GD, Andreassen OA, Dale AM. Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease. Circulation. 2015 Jun 9; 131(23):2061-9.View Related Profiles.

DeStefano, Anita
Farrer, Lindsay
Choi, Seung Hoan
Seshadri, Sudha

PMID: 25862742; PMCID: PMC4677995; DOI: 10.1161/CIRCULATIONAHA.115.015489;

van der Lee SJ, Holstege H, Wong TH, Jakobsdottir J, Bis JC, Chouraki V, van Rooij JG, Grove ML, Smith AV, Amin N, Choi SH, Beiser AS, Garcia ME, van IJcken WF, Pijnenburg YA, Louwersheimer E, Brouwer RW, van den Hout MC, Oole E, Eirkisdottir G, Levy D, Rotter JI, Emilsson V, O'Donnell CJ, Aspelund T, Uitterlinden AG, Launer LJ, Hofman A, Boerwinkle E, Psaty BM, DeStefano AL, Scheltens P, Seshadri S, van Swieten JC, Gudnason V, van der Flier WM, Ikram MA, van Duijn CM. PLD3 variants in population studies. Nature. 2015 Apr 2; 520(7545):E2-3.View Related Profiles.

Beiser, Alexa
DeStefano, Anita
O'Donnell, Christopher
Choi, Seung Hoan
Seshadri, Sudha

PMID: 25832410; PMCID: PMC4544703; DOI: 10.1038/nature14038;

Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj AC, Kunkle BW, Wang LS, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, Beecham GW, Smith AV, Chouraki V, Hamilton-Nelson KL, Ikram MA, Fievet N, Denning N, Martin ER, Schmidt H, Kamatani Y, Dunstan ML, Valladares O, Laza AR, Zelenika D, Ramirez A, Foroud TM, Choi SH, Boland A, Becker T, Kukull WA, van der Lee SJ, Pasquier F, Cruchaga C, Beekly D, Fitzpatrick AL, Hanon O, Gill M, Barber R, Gudnason V, Campion D, Love S, Bennett DA, Amin N, Berr C, Tsolaki M, Buxbaum JD, Lopez OL, Deramecourt V, Fox NC, Cantwell LB, Tárraga L, Dufouil C, Hardy J, Crane PK, Eiriksdottir G, Hannequin D, Clarke R, Evans D, Mosley TH, Letenneur L, Brayne C, Maier W, De Jager P, Emilsson V, Dartigues JF, Hampel H, Kamboh MI, de Bruijn RF, Tzourio C, Pastor P, Larson EB, Rotter JI, O'Donovan MC, Montine TJ, Nalls MA, Mead S, Reiman EM, Jonsson PV, Holmes C, St George-Hyslop PH, Boada M, Passmore P, Wendland JR, Schmidt R, Morgan K, Winslow AR, Powell JF, Carasquillo M, Younkin SG, Jakobsdóttir J, Kauwe JS, Wilhelmsen KC, Rujescu D, Nöthen MM, Hofman A, Jones L, Haines JL, Psaty BM, Van Broeckhoven C, Holmans P, Launer LJ, Mayeux R, Lathrop M, Goate AM, Escott-Price V, Seshadri S, Pericak-Vance MA, Amouyel P, Williams J, van Duijn CM, Schellenberg GD, Farrer LA. A novel Alzheimer disease locus located near the gene encoding tau protein. Mol Psychiatry. 2016 Jan; 21(1):108-17.View Related Profiles.

DeStefano, Anita
Jun, Gyungah
Chung, Jaeyoon
Lunetta, Kathryn
Farrer, Lindsay
Choi, Seung Hoan
Seshadri, Sudha

PMID: 25778476; PMCID: PMC4573764; DOI: 10.1038/mp.2015.23;

Desikan RS, Schork AJ, Wang Y, Witoelar A, Sharma M, McEvoy LK, Holland D, Brewer JB, Chen CH, Thompson WK, Harold D, Williams J, Owen MJ, O'Donovan MC, Pericak-Vance MA, Mayeux R, Haines JL, Farrer LA, Schellenberg GD, Heutink P, Singleton AB, Brice A, Wood NW, Hardy J, Martinez M, Choi SH, DeStefano A, Ikram MA, Bis JC, Smith A, Fitzpatrick AL, Launer L, van Duijn C, Seshadri S, Ulstein ID, Aarsland D, Fladby T, Djurovic S, Hyman BT, Snaedal J, Stefansson H, Stefansson K, Gasser T, Andreassen OA, Dale AM. Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus. Mol Psychiatry. 2015 Dec; 20(12):1588-95.View Related Profiles.

DeStefano, Anita
Farrer, Lindsay
Choi, Seung Hoan
Seshadri, Sudha

PMID: 25687773; PMCID: PMC4539304; DOI: 10.1038/mp.2015.6;

Debette S, Ibrahim Verbaas CA, Bressler J, Schuur M, Smith A, Bis JC, Davies G, Wolf C, Gudnason V, Chibnik LB, Yang Q, deStefano AL, de Quervain DJ, Srikanth V, Lahti J, Grabe HJ, Smith JA, Priebe L, Yu L, Karbalai N, Hayward C, Wilson JF, Campbell H, Petrovic K, Fornage M, Chauhan G, Yeo R, Boxall R, Becker J, Stegle O, Mather KA, Chouraki V, Sun Q, Rose LM, Resnick S, Oldmeadow C, Kirin M, Wright AF, Jonsdottir MK, Au R, Becker A, Amin N, Nalls MA, Turner ST, Kardia SL, Oostra B, Windham G, Coker LH, Zhao W, Knopman DS, Heiss G, Griswold ME, Gottesman RF, Vitart V, Hastie ND, Zgaga L, Rudan I, Polasek O, Holliday EG, Schofield P, Choi SH, Tanaka T, An Y, Perry RT, Kennedy RE, Sale MM, Wang J, Wadley VG, Liewald DC, Ridker PM, Gow AJ, Pattie A, Starr JM, Porteous D, Liu X, Thomson R, Armstrong NJ, Eiriksdottir G, Assareh AA, Kochan NA, Widen E, Palotie A, Hsieh YC, Eriksson JG, Vogler C, van Swieten JC, Shulman JM, Beiser A, Rotter J, Schmidt CO, Hoffmann W, Nöthen MM, Ferrucci L, Attia J, Uitterlinden AG, Amouyel P, Dartigues JF, Amieva H, Räikkönen K, Garcia M, Wolf PA, Hofman A, Longstreth WT, Psaty BM, Boerwinkle E, DeJager PL, Sachdev PS, Schmidt R, Breteler MM, Teumer A, Lopez OL, Cichon S, Chasman DI, Grodstein F, Müller-Myhsok B, Tzourio C, Papassotiropoulos A, Bennett DA, Ikram MA, Deary IJ, van Duijn CM, Launer L, Fitzpatrick AL, Seshadri S, Mosley TH. Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. Biol Psychiatry. 2015 Apr 15; 77(8):749-63.View Related Profiles.

Beiser, Alexa
DeStefano, Anita
Chibnik, Lori
Wolf, Philip
Yang, Qiong
Au, Rhoda
Choi, Seung Hoan
Seshadri, Sudha
Zhao, Wei
Hsieh, Yi-Chen

PMID: 25648963; PMCID: PMC4513651; DOI: 10.1016/j.biopsych.2014.08.027;

Bis JC, DeStefano A, Liu X, Brody JA, Choi SH, Verhaaren BF, Debette S, Ikram MA, Shahar E, Butler KR, Gottesman RF, Muzny D, Kovar CL, Psaty BM, Hofman A, Lumley T, Gupta M, Wolf PA, van Duijn C, Gibbs RA, Mosley TH, Longstreth WT, Boerwinkle E, Seshadri S, Fornage M. Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium. PLoS One. 2014; 9(6):e99798.View Related Profiles.

DeStefano, Anita
Gupta, Mayetri
Wolf, Philip
Choi, Seung Hoan
Seshadri, Sudha

PMID: 24959832; PMCID: PMC4069013; DOI: 10.1371/journal.pone.0099798;

Chen H, Choi SH, Hong J, Lu C, Milton JN, Allard C, Lacey SM, Lin H, Dupuis J. Rare genetic variant analysis on blood pressure in related samples. BMC Proc. 2014; 8(Suppl 1):S35.View Related Profiles.

Lin, Honghuang
Hicks, Jacqueline
Dupuis, Josee
Choi, Seung Hoan

PMID: 25519320; PMCID: PMC4143757; DOI: 10.1186/1753-6561-8-S1-S35;

Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M, Johnson AD, Ruiz A, Bihoreau MT, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernández I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, George-Hyslop PS, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FS, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E, Bonuccelli U, Mancuso M, Siciliano G, Moebus S, Mecocci P, Zompo MD, Maier W, Hampel H, Pilotto A, Frank-García A, Panza F, Solfrizzi V, Caffarra P, Nacmias B, Perry W, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Haines JL, Lathrop M, Pericak-Vance MA, Launer LJ, Van Broeckhoven C, Farrer LA, van Duijn CM, Ramirez A, Seshadri S, Schellenberg GD, Amouyel P, Williams J. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. PLoS One. 2014; 9(6):e94661.View Related Profiles.

DeStefano, Anita
Jun, Gyungah
Farrer, Lindsay
Choi, Seung Hoan
Seshadri, Sudha

PMID: 24922517; PMCID: PMC4055488; DOI: 10.1371/journal.pone.0094661;

Ibrahim-Verbaas CA, Fornage M, Bis JC, Choi SH, Psaty BM, Meigs JB, Rao M, Nalls M, Fontes JD, O'Donnell CJ, Kathiresan S, Ehret GB, Fox CS, Malik R, Dichgans M, Schmidt H, Lahti J, Heckbert SR, Lumley T, Rice K, Rotter JI, Taylor KD, Folsom AR, Boerwinkle E, Rosamond WD, Shahar E, Gottesman RF, Koudstaal PJ, Amin N, Wieberdink RG, Dehghan A, Hofman A, Uitterlinden AG, Destefano AL, Debette S, Xue L, Beiser A, Wolf PA, Decarli C, Ikram MA, Seshadri S, Mosley TH, Longstreth WT, van Duijn CM, Launer LJ. Predicting stroke through genetic risk functions: the CHARGE Risk Score Project. Stroke. 2014 Feb; 45(2):403-12.View Related Profiles.

Beiser, Alexa
DeStefano, Anita
O'Donnell, Christopher
Wolf, Philip
Choi, Seung Hoan
Seshadri, Sudha

PMID: 24436238; PMCID: PMC3955258; DOI: 10.1161/STROKEAHA.113.003044;

Weinstein G, Beiser AS, Choi SH, Preis SR, Chen TC, Vorgas D, Au R, Pikula A, Wolf PA, DeStefano AL, Vasan RS, Seshadri S. Serum brain-derived neurotrophic factor and the risk for dementia: the Framingham Heart Study. JAMA Neurol. 2014 Jan; 71(1):55-61.View Related Profiles.

Pikula, Aleksandra
Beiser, Alexa
DeStefano, Anita
Weinstein, Galit
Wolf, Philip
Au, Rhoda
Preis, Sarah
Choi, Seung Hoan
Seshadri, Sudha
Chen, Tai
Ramachandran, Vasan

PMID: 24276217; PMCID: PMC4056186; DOI: 10.1001/jamaneurol.2013.4781;

Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, DeStafano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thorton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Gerrish A, Schmidt H, Kunkle B, Dunstan ML, Ruiz A, Bihoreau MT, Choi SH, Reitz C, Pasquier F, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Morón FJ, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MW, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuiness B, Larson EB, Green R, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Sanchez-Garcia F, Fox NC, Hardy J, Deniz Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Matthews F, Moebus S, Mecocci P, Del Zompo M, Maier W, Hampel H, Pilotto A, Bullido M, Panza F, Caffarra P, Nacmias B, Gilbert JR, Mayhaus M, Lannefelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltuenen M, Martin ER, Schmidt R, Rujescu D, Wang LS, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Jones L, Haines JL, Holmans PA, Lathrop M, Pericak-Vance MA, Launer LJ, Farrer LA, van Duijn CM, Van Broeckhoven C, Moskvina V, Seshadri S, Williams J, Schellenberg GD, Amouyel P. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet. 2013 Dec; 45(12):1452-8.View Related Profiles.

DeStefano, Anita
Jun, Gyungah
Lunetta, Kathryn
Farrer, Lindsay
Wolf, Philip
Choi, Seung Hoan
Seshadri, Sudha

PMID: 24162737; PMCID: PMC3896259; DOI: 10.1038/ng.2802;

Schilling S, DeStefano AL, Sachdev PS, Choi SH, Mather KA, DeCarli CD, Wen W, Høgh P, Raz N, Au R, Beiser A, Wolf PA, Romero JR, Zhu YC, Lunetta KL, Farrer L, Dufouil C, Kuller LH, Mazoyer B, Seshadri S, Tzourio C, Debette S. APOE genotype and MRI markers of cerebrovascular disease: systematic review and meta-analysis. Neurology. 2013 Jul 16; 81(3):292-300.View Related Profiles.

Beiser, Alexa
DeStefano, Anita
Romero, Jose
Lunetta, Kathryn
Farrer, Lindsay
Wolf, Philip
Au, Rhoda
Choi, Seung Hoan
Seshadri, Sudha

PMID: 23858411; PMCID: PMC3770168; DOI: 10.1212/WNL.0b013e31829bfda4;

Bis JC, DeCarli C, Smith AV, van der Lijn F, Crivello F, Fornage M, Debette S, Shulman JM, Schmidt H, Srikanth V, Schuur M, Yu L, Choi SH, Sigurdsson S, Verhaaren BF, DeStefano AL, Lambert JC, Jack CR, Struchalin M, Stankovich J, Ibrahim-Verbaas CA, Fleischman D, Zijdenbos A, den Heijer T, Mazoyer B, Coker LH, Enzinger C, Danoy P, Amin N, Arfanakis K, van Buchem MA, de Bruijn RF, Beiser A, Dufouil C, Huang J, Cavalieri M, Thomson R, Niessen WJ, Chibnik LB, Gislason GK, Hofman A, Pikula A, Amouyel P, Freeman KB, Phan TG, Oostra BA, Stein JL, Medland SE, Vasquez AA, Hibar DP, Wright MJ, Franke B, Martin NG, Thompson PM, Nalls MA, Uitterlinden AG, Au R, Elbaz A, Beare RJ, van Swieten JC, Lopez OL, Harris TB, Chouraki V, Breteler MM, De Jager PL, Becker JT, Vernooij MW, Knopman D, Fazekas F, Wolf PA, van der Lugt A, Gudnason V, Longstreth WT, Brown MA, Bennett DA, van Duijn CM, Mosley TH, Schmidt R, Tzourio C, Launer LJ, Ikram MA, Seshadri S. Common variants at 12q14 and 12q24 are associated with hippocampal volume. Nat Genet. 2012 May; 44(5):545-51.View Related Profiles.

Pikula, Aleksandra
Beiser, Alexa
DeStefano, Anita
Chibnik, Lori
Wolf, Philip
Au, Rhoda
Choi, Seung Hoan
Seshadri, Sudha

PMID: 22504421; PMCID: PMC3427729; DOI: 10.1038/ng.2237;

Choi SH, Liu C, Dupuis J, Logue MW, Jun G. Using linkage analysis of large pedigrees to guide association analyses. BMC Proc. 2011; 5 Suppl 9:S79.View Related Profiles.

Liu, Chunyu
Jun, Gyungah
Dupuis, Josee
Logue, Mark
Choi, Seung Hoan

PMID: 22373287; PMCID: PMC3287919; DOI: 10.1186/1753-6561-5-S9-S79;

Debette S, Visvikis-Siest S, Chen MH, Ndiaye NC, Song C, Destefano A, Safa R, Azimi Nezhad M, Sawyer D, Marteau JB, Xanthakis V, Siest G, Sullivan L, Pfister M, Smith H, Choi SH, Lamont J, Lind L, Yang Q, Fitzgerald P, Ingelsson E, Vasan RS, Seshadri S. Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels. Circ Res. 2011 Aug 19; 109(5):554-63.View Related Profiles.

DeStefano, Anita
Sullivan, Lisa
Yang, Qiong
Choi, Seung Hoan
Seshadri, Sudha
Xanthakis, Vanessa
Ramachandran, Vasan

PMID: 21757650; PMCID: PMC3193930; DOI: 10.1161/CIRCRESAHA.111.243790;

Huang C, Li K, Fleur RS, Chang SW, Choi SH, Shen T, Shin SY, Finch SJ, Mendell NR. Family-based analysis of a myocardial infarction endophenotype: comparison of sampling designs. BMC Proc. 2009 Dec 15; 3 Suppl 7:S120. PMID: 20017986; PMCID: PMC2795893; DOI: 10.1186/1753-6561-3-S7-S120;

Chang SW, Choi SH, Li K, Fleur RS, Huang C, Shen T, Ahn K, Gordon D, Kim W, Wu R, Mendell NR, Finch SJ. Growth mixture modeling as an exploratory analysis tool in longitudinal quantitative trait loci analysis. BMC Proc. 2009 Dec 15; 3 Suppl 7:S112. PMID: 20017977; PMCID: PMC2795884; DOI: 10.1186/1753-6561-3-s7-s112;

This graph shows the total number of publications by year, by first, middle/unknown, or last author.

Bar chart showing 108 publications over 17 distinct years, with a maximum of 18 publications in 2024