Publications

1.         Safonov A, Nomakuchi TT, Chao E, Horton C, Dolinsky JS, Yussuf A, Richardson M, Speare V, Li S, Bogus ZC, Bonanni M, Raper A, Kallish S, Ritchie MD, Regeneron Genetics Center, Penn Medicine BioBank, Nathanson KL, Drivas TG. 2023. A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations. MedRxiv Prepr Serv Health Sci 2023.08.08.23293676.

2.         Schneider CV, Li T, Zhang D, Mezina AI, Rattan P, Huang H, Creasy KT, Scorletti E, Zandvakili I, Vujkovic M, Hehl L, Fiksel J, Park J, Wangensteen K, Risman M, Chang K-M, Serper M, Carr RM, Schneider KM, Chen J, Rader DJ. 2023. Large-scale identification of undiagnosed hepatic steatosis using natural language processing. EClinicalMedicine 62:102149.

3.         Gold JI, Madhavan S, Park J, Zouk H, Perez E, Strong A, Drivas TG, Karaa A, Yudkoff M, Rader D, Regeneron Genetics Center, Penn Medicine BioBank, Green RC, Gold NB. 2023. Phenotypes of undiagnosed adults with actionable OTC and GLA variants. HGG Adv 4:100226.

4.         Wineland D, Le AN, Hausler R, Kelly G, Barrett E, Desai H, Wubbenhorst B, Pluta J, Bastian P, Symecko H, D’Andrea K, Doucette A, Gabriel P, Reiss KA, Nayak A, Feldman M, Domchek SM, Nathanson KL, Maxwell KN, Regeneron Genetics Center, Penn Medicine Biobank. 2023. Biallelic BRCA Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline BRCA1/2 Carriers. JCO Precis Oncol 7:e2300036.

5.         Compher CW, Quinn R, Haslam R, Bader E, Weaver J, Dudek S, Ritchie MD, Lewis JD, Wu GD. 2023. Penn Healthy Diet survey: pilot validation and scoring. Br J Nutr 1–7.

6.         Lee DSM, DePaolo JS, Aragam KG, Biddinger K, Conery M, Dilitikas O, Hoffman-Andrews L, Judy RL, Khan A, Kulo I, Puckelwartz MJ, Reza N, Satterfield BA, Singhal P, Regeneron Genetics Center, Arany ZP, Cappola TP, Carruth E, Day SM, Do R, Haggarty CM, Joseph J, McNally E, Nadkarni G, Owens AT, Rader DJ, Ritchie MD, Sun Y, Voight BF, Levin MG, Damrauer SM. 2023. Common- and rare-variant genetic architecture of heart failure across the allele frequency spectrum. MedRxiv Prepr Serv Health Sci 2023.07.16.23292724.

7.         Vell MS, Loomba R, Krishnan A, Wangensteen KJ, Trebicka J, Creasy KT, Trautwein C, Scorletti E, Seeling KS, Hehl L, Rendel MD, Zandvakili I, Li T, Chen J, Vujkovic M, Alqahtani S, Rader DJ, Schneider KM, Schneider CV. 2023. Association of Statin Use With Risk of Liver Disease, Hepatocellular Carcinoma, and Liver-Related Mortality. JAMA Netw Open 6:e2320222.

8.         Verma SS, Guare L, Ehsan S, Gastounioti A, Scales G, Ritchie MD, Kontos D, McCarthy AM, Penn Medicine Biobank. 2023. Genome-Wide Association Study of Breast Density among Women of African Ancestry. 10. Cancers 15:2776.

9.         Zaidi AA, Verma A, Morse C, Penn Medicine BioBank, Ritchie MD, Mathieson I. 2023. The genetic and phenotypic correlates of mtDNA copy number in a multi-ancestry cohort. HGG Adv 4:100202.

10.       Schneider CV, Hehl L, Creasy KT, Vitali C, Vell MS, Vujkovic M, Park J, Scorletti E, Seeling KS, Rendel MD, Conlon DM, Huang H, Zandvakili I, Valmiki S, Regeneron Center, Schneider KM, Hussain MM, Rader DJ. 2023. A coding variant in the microsomal triglyceride transfer protein reduces both hepatic steatosis and plasma lipids. Aliment Pharmacol Ther 58:238–249.

11.       Pyle LC, Kim J, Bradfield J, Damrauer SM, D’Andrea K, Einhorn LH, Godse R, Hakonarson H, Kanetsky PA, Kember RL, Jacobs LA, Maxwell KN, Rader DJ, Vaughn DJ, Weathers B, Wubbenhorst B, Regeneron Genetics Center Research Team  null, Cancer Genomics Research Laboratory  null, Greene MH, Nathanson KL, Stewart DR. 2023. Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes. Eur Urol S0302-2838(23)02813–0.

12.       Reza N, Levin MG, Vidula MK, Bravo PE, Damrauer SM, Ritchie MD, Regeneron Genetics Center, Chahal CAA, Owens AT. 2023. Prevalence of Pathogenic Variants in Dilated Cardiomyopathy-Associated Genes in Patients Evaluated for Cardiac Sarcoidosis. Circ Genomic Precis Med 16:409–411.

13.       Xu H, Toikumo S, Crist RC, Glogowska K, Jinwala Z, Deak JD, Justice AC, Gelernter J, Johnson EC, Kranzler HR, Kember RL. 2023. Identifying Genetic Loci and Phenomic Associations of Substance Use Traits: A Multi-trait Analysis of GWAS (MTAG) study. Addict Abingdon Engl https://doi.org/10.1111/add.16229.

14.       Tsao NL, Judy R, Levin MG, Shakt G, Center RG, BioBank PM, Voight BF, Chen J, Damrauer SM. 2023. Evaluation of the Performance of the RECODe Equation with the Addition of Polygenic Risk Scores for Adverse Cardiovascular Outcomes in Individuals with Type II Diabetes. medRxiv https://doi.org/10.1101/2023.05.03.23289457.

15.       Chen HY, Dina C, Small AM, Shaffer CM, Levinson RT, Helgadóttir A, Capoulade R, Munter HM, Martinsson A, Cairns BJ, Trudsø LC, Hoekstra M, Burr HA, Marsh TW, Damrauer SM, Dufresne L, Le Scouarnec S, Messika-Zeitoun D, Ranatunga DK, Whitmer RA, Bonnefond A, Sveinbjornsson G, Daníelsen R, Arnar DO, Thorgeirsson G, Thorsteinsdottir U, Gudbjartsson DF, Hólm H, Ghouse J, Olesen MS, Christensen AH, Mikkelsen S, Jacobsen RL, Dowsett J, Pedersen OBV, Erikstrup C, Ostrowski SR, Regeneron Genetics Center, O’Donnell CJ, Budoff MJ, Gudnason V, Post WS, Rotter JI, Lathrop M, Bundgaard H, Johansson B, Ljungberg J, Näslund U, Le Tourneau T, Smith JG, Wells QS, Söderberg S, Stefánsson K, Schott J-J, Rader DJ, Clarke R, Engert JC, Thanassoulis G. 2023. Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study. Eur Heart J ehad142.

16.       Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Rayner NW, Bocher O, Ana Luiza de SVA, Sonehara K, Namba S, Lee SSK, Preuss MH, Petty LE, Schroeder P, Vanderwerff B, Kals M, Bragg F, Lin K, Guo X, Zhang W, Yao J, Kim YJ, Graff M, Takeuchi F, Nano J, Lamri A, Nakatochi M, Moon S, Scott RA, Cook JP, Lee J-J, Pan I, Taliun D, Parra EJ, Chai J-F, Bielak LF, Tabara Y, Hai Y, Thorleifsson G, Grarup N, Sofer T, Wuttke M, Sarnowski C, Gieger C, Nousome D, Trompet S, Kwak S-H, Long J, Sun M, Tong L, Chen W-M, Nongmaithem SS, Noordam R, Lim VJY, Tam CHT, Joo YY, Chen C-H, Raffield LM, Prins BP, Nicolas A, Yanek LR, Chen G, Brody JA, Kabagambe E, An P, Xiang AH, Choi HS, Cade BE, Tan J, Alaine Broadaway K, Williamson A, Kamali Z, Cui J, Adair LS, Adeyemo A, Aguilar-Salinas CA, Ahluwalia TS, Anand SS, Bertoni A, Bork-Jensen J, Brandslund I, Buchanan TA, Burant CF, Butterworth AS, Canouil M, Chan JCN, Chang L-C, Chee M-L, Chen J, Chen S-H, Chen Y-T, Chen Z, Chuang L-M, Cushman M, Danesh J, Das SK, Janaka de Silva H, Dedoussis G, Dimitrov L, Doumatey AP, Du S, Duan Q, Eckardt K-U, Emery LS, Evans DS, Evans MK, Fischer K, Floyd JS, Ford I, Franco OH, Frayling TM, Freedman BI, Genter P, Gerstein HC, Giedraitis V, González-Villalpando C, González-Villalpando ME, Gordon-Larsen P, Gross M, Guare LA, Hackinger S, Han S, Hattersley AT, Herder C, Horikoshi M, Howard A-G, Hsueh W, Huang M, Huang W, Hung Y-J, Hwang MY, Hwu C-M, Ichihara S, Ikram MA, Ingelsson M, Islam MT, Isono M, Jang H-M, Jasmine F, Jiang G, Jonas JB, Jørgensen T, Kandeel FR, Kasturiratne A, Katsuya T, Kaur V, Kawaguchi T, Keaton JM, Kho AN, Khor C-C, Kibriya MG, Kim D-H, Kronenberg F, Kuusisto J, Läll K, Lange LA, Lee KM, Lee M-S, Lee NR, Leong A, Li L, Li Y, Li-Gao R, Lithgart S, Lindgren CM, Linneberg A, Liu C-T, Liu J, Locke AE, Louie T, Luan J, Luk AO, Luo X, Lv J, Lynch JA, Lyssenko V, Maeda S, Mamakou V, Mansuri SR, Matsuda K, Meitinger T, Metspalu A, Mo H, Morris AD, Nadler JL, Nalls MA, Nayak U, Ntalla I, Okada Y, Orozco L, Patel SR, Patil S, Pei P, Pereira MA, Peters A, Pirie FJ, Polikowsky HG, Porneala B, Prasad G, Rasmussen-Torvik LJ, Reiner AP, Roden M, Rohde R, Roll K, Sabanayagam C, Sandow K, Sankareswaran A, Sattar N, Schönherr S, Shahriar M, Shen B, Shi J, Shin DM, Shojima N, Smith JA, So WY, Stančáková A, Steinthorsdottir V, Stilp AM, Strauch K, Taylor KD, Thorand B, Thorsteinsdottir U, Tomlinson B, Tran TC, Tsai F-J, Tuomilehto J, Tusie-Luna T, Udler MS, Valladares-Salgado A, van Dam RM, van Klinken JB, Varma R, Wacher-Rodarte N, Wheeler E, Wickremasinghe AR, van Dijk KW, Witte DR, Yajnik CS, Yamamoto K, Yamamoto K, Yoon K, Yu C, Yuan J-M, Yusuf S, Zawistowski M, Zhang L, Zheng W, VA Million Veteran Program, AMED GRIFIN Diabetes Initiative Japan, Project BJ, BioBank PM, Center RG, Consortium  eMERGE, International Consortium for Blood Pressure (ICBP), Meta-Analyses of Glucose and Insulin-Related Traits Consortium (MAGIC), Raffel LJ, Igase M, Ipp E, Redline S, Cho YS, Lind L, Province MA, Fornage M, Hanis CL, Ingelsson E, Zonderman AB, Psaty BM, Wang Y-X, Rotimi CN, Becker DM, Matsuda F, Liu Y, Yokota M, Kardia SLR, Peyser PA, Pankow JS, Engert JC, Bonnefond A, Froguel P, Wilson JG, Sheu WHH, Wu J-Y, Geoffrey Hayes M, Ma RCW, Wong T-Y, Mook-Kanamori DO, Tuomi T, Chandak GR, Collins FS, Bharadwaj D, Paré G, Sale MM, Ahsan H, Motala AA, Shu X-O, Park K-S, Jukema JW, Cruz M, Chen Y-DI, Rich SS, McKean-Cowdin R, Grallert H, Cheng C-Y, Ghanbari M, Tai E-S, Dupuis J, Kato N, Laakso M, Köttgen A, Koh W-P, Bowden DW, Palmer CNA, Kooner JS, Kooperberg C, Liu S, North KE, Saleheen D, Hansen T, Pedersen O, Wareham NJ, Lee J, Kim B-J, Millwood IY, Walters RG, Stefansson K, Goodarzi MO, Mohlke KL, Langenberg C, Haiman CA, Loos RJF, Florez JC, Rader DJ, Ritchie MD, Zöllner S, Mägi R, Denny JC, Yamauchi T, Kadowaki T, Chambers JC, Ng MCY, Sim X, Below JE, Tsao PS, Chang K-M, McCarthy MI, Meigs JB, Mahajan A, Spracklen CN, Mercader JM, Boehnke M, Rotter JI, Vujkovic M, Voight BF, Morris AP, Zeggini E. 2023. Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications. MedRxiv Prepr Serv Health Sci 2023.03.31.23287839.

17.       Toikumo S, Jennings MV, Pham B, Lee H, Mallard TT, Bianchi SB, Meredith JJ, Vilar-Rib L, Xu H, Hatoum AS, Johnson EC, Pazdernik V, Jinwala Z, Leger BS, Niarchou M, Ehinmowo M, BioBank PM, Veteran M, Jenkins GD, Batzler A, Pendegraft R, Palmer AA, Zhou H, Biernacka JM, Coombes BJ, Gelernter J, Xu K, Hancock DB, Cox NJ, Smoller JW, Davis LK, Justice AC, Kranzler HR, Kember RL, Sanchez-Roige S. 2023. Multi-ancestry meta-analysis of tobacco use disorders based on electronic health record data prioritizes novel candidate risk genes and reveals associations with numerous health outcomes. MedRxiv Prepr Serv Health Sci 2023.03.27.23287713.

18.       Lee SM, Shivakumar M, Xiao B, Jung S-H, Nam Y, Yun J-S, Choe EK, Jung YM, Oh S, Park JS, Jun JK, Kim D. 2023. Genome-wide polygenic risk scores for hypertensive disease during pregnancy can also predict the risk for long-term cardiovascular disease. Am J Obstet Gynecol S0002-9378(23)00157–6.

19.       Toikumo S, Vickers-Smith R, Jinwala Z, Xu H, Saini D, Hartwell E, Venegas MP, Sullivan KA, Xu K, Jacobson DA, Gelernter J, Rentsch CT, Million Veteran Program, Stahl E, Cheatle M, Zhou H, Waxman SG, Justice AC, Kember RL, Kranzler HR. 2023. The genetic architecture of pain intensity in a sample of 598,339 U.S. veterans. MedRxiv Prepr Serv Health Sci 2023.03.09.23286958.

20.       Xiao B, Velez Edwards DR, Lucas A, Drivas T, Gray K, Keating B, Weng C, Jarvik GP, Hakonarson H, Kottyan L, Elhadad N, Wei W, Luo Y, Kim D, Ritchie M, Verma SS, Abecasis G, Baras A, Cantor M, Coppola G, Deubler A, Economides A, Karalis K, Lotta LA, Overton JD, Reid JG, Siminovitch K, Shuldiner A, Beechert C, Forsythe C, Fuller ED, Gu Z, Lattari M, Lopez A, Overton JD, Padilla MS, Pradhan M, Manoochehri K, Schleicher TD, Widom L, Wolf SE, Ulloa RH, Averitt A, Banerjee N, Cantor M, Li D, Malhotra S, Sharma D, Staples J, Bai X, Balasubramanian S, Bao S, Boutkov B, Chen S, Eom G, Habegger L, Hawes A, Khalid S, Krasheninina O, Lanche R, Mansfield AJ, Maxwell EK, Mitra G, Nafde M, O’Keeffe S, Orelus M, Panea R, Polanco T, Rasool A, Reid JG, Salerno W, Staples JC, Sun K, Abecasis G, Backman J, Damask A, Dobbyn L, Ferreira MAR, Ghosh A, Gillies C, Gurski L, Jorgenson E, Kang HM, Kessler M, Kosmicki J, Li A, Lin N, Liu D, Locke A, Marchini J, Marcketta A, Mbatchou J, Moscati A, Paulding C, Sidore C, Stahl E, Watanabe K, Ye B, Zhang B, Ziyatdinov A, Ayer A, Guvenek A, Hindy G, Coppola G, Freudenberg J, Bovijn J, Siminovitch K, Praveen K, Lotta LA, Kapoor M, Haas M, Riaz M, Verweij N, Sosina O, Akbari P, Nakka P, Gelfman S, Gokhale S, De T, Rajagopal V, Shuldiner A, Ye B, Tzoneva G, Rodriguez‐Flores J, Chim SM, Donato V, Economides A, Fernandez D, Gatta GD, Di Gioia A, Howell K, Karalis K, Khrimian L, Kim M, Martinez H, Miloscio L, Nunez S, Pavlopoulos E, Persaud T, Chen E, Jones MB, LeBlanc MG, Mighty J, Mitnaul LJ, Nishtala N, Rana N. 2023. Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions. J Am Heart Assoc 12:e026561.

21.       Stankov S, Vitali C, Park J, Nguyen D, Mayne L, Englander SW, Regeneron Genetics Center, Levin MG, Vujkovic M, Hand NJ, Phillips MC, Rader DJ. 2023. Comparison of the structure-function properties of wild-type human apoA-V and a C-terminal truncation associated with elevated plasma triglycerides. preprint. Cardiovascular Medicine.

22.       Small AM, Peloso GM, Linefsky J, Aragam J, Galloway A, Tanukonda V, Wang L-C, Yu Z, Sunitha Selvaraj M, Farber-Eger EH, Baker MT, Setia-Verma S, Lee SSK, Preuss M, Ritchie MD, Damrauer SM, Rader DJ, Wells QS, Loos R, Lubitz SA, Thanassoulis G, Cho K, Wilson PWF, The VA Million Veteran Program, Natarajan P, O’Donnell CJ. 2023. Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program. Circulation 147:942–955.

23.       Jasper EA, Hellwege JN, Breeyear JH, Xiao B, Jarvik GP, Stanaway IB, Leppig KA, Chittoor G, Hayes MG, Dikilitas O, Kullo IJ, Holm IA, Verma SS, Edwards TL, Velez Edwards DR. 2023. Genetic Predictors of Blood Pressure Traits are Associated with Preeclampsia. preprint. Genetic and Genomic Medicine.

24.       Painter MM, Johnston TS, Lundgreen KA, Santos JJS, Qin JS, Goel RR, Apostolidis SA, Mathew D, Fulmer B, Williams JC, McKeague ML, Pattekar A, Goode A, Nasta S, Baxter AE, Giles JR, Skelly AN, Felley LE, McLaughlin M, Weaver J, Penn Medicine BioBank, Kuthuru O, Dougherty J, Adamski S, Long S, Kee M, Clendenin C, da Silva Antunes R, Grifoni A, Weiskopf D, Sette A, Huang AC, Rader DJ, Hensley SE, Bates P, Greenplate AR, Wherry EJ. 2023. Prior vaccination enhances immune responses during SARS-CoV-2 breakthrough infection with early activation of memory T cells followed by production of potent neutralizing antibodies. preprint. Immunology.

25.       Zhou H, Kember RL, Deak JD, Xu H, Toikumo S, Yuan K, Lind PA, Farajzadeh L, Wang L, Hatoum AS, Johnson J, Lee H, Mallard TT, Xu J, Johnston KJA, Johnson EC, Galimberti M, Dao C, Levey DF, Overstreet C, Byrne EM, Gillespie NA, Gordon S, Hickie IB, Whitfield JB, Xu K, Zhao H, Huckins LM, Davis LK, Sanchez-Roige S, Madden PAF, Heath AC, Medland SE, Martin NG, Ge T, Smoller JW, Hougaard DM, Børglum AD, Demontis D, Krystal JH, Gaziano JM, Edenberg HJ, Agrawal A, Million Veteran Program, Justice AC, Stein MB, Kranzler HR, Gelernter J. 2023. Multi-ancestry study of the genetics of problematic alcohol use in >1 million individuals. MedRxiv Prepr Serv Health Sci 2023.01.24.23284960.

26.       Kim J, Vaksman Z, Egolf LE, Kaufman R, Evans JP, Conkrite KL, Danesh A, Lopez G, Randall MP, Dent MH, Farra LM, Menghani N, Dymek M, Desai H, Hausler R, Penn Medicine BioBank, Regeneron Genetics Center, Cancer Genomics Research Laboratory, Auvil JG, Gerhard DS, Hakonarson H, Maxwell KN, Cole KA, Pugh TJ, Bosse KR, Khan J, Wei JS, Maris JM, Stewart DR, Diskin SJ. 2023. Germline pathogenic variants in 786 neuroblastoma patients. preprint. Genetic and Genomic Medicine.

27.       Hui D, Mehrabi S, Quimby AE, Chen T, Chen S, Park J, Li B, Regeneron Genetics Center, Penn Medicine Biobank, Ruckenstein MJ, Rader DJ, Ritchie MD, Brant JA, Epstein DJ, Mathieson I. 2023. Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort. PLOS Genet 19:e1010584.

28.       Park J, MacLean MT, Lucas AM, Torigian DA, Schneider CV, Cherlin T, Xiao B, Miller JE, Bradford Y, Judy RL, Verma A, Damrauer SM, Ritchie MD, Witschey WR, Rader DJ. 2022. Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank. Cell Rep Med 3:100855.

29.       Honigberg MC, Truong B, Khan RR, Xiao B, Bhatta L, Vy TH, Guerrero RF, Schuermans A, Selvaraj MS, Patel AP, Koyama S, Cho SMJ, Vellarikkal SK, Trinder M, Urbut SM, Gray KJ, Brumpton BM, Patil S, Zöllner S, Antopia MC, Genes &amp, Team HR, Team EBR, Team  nuMoM2b R, Saxena R, Nadkarni GN, Do R, Yan Q, Pe’er I, Verma SS, Gupta RM, Haas DM, Martin HC, Heel DA van, Laisk T, Natarajan P. 2023. Genome-wide meta-analysis identifies novel maternal risk variants and enables polygenic prediction of preeclampsia and gestational hypertension. medRxiv https://doi.org/10.1101/2022.11.30.22282929.

30.       Verma A, Damrauer SM, Naseer N, Weaver J, Kripke CM, Guare L, Sirugo G, Kember RL, Drivas TG, Dudek SM, Bradford Y, Lucas A, Judy R, Verma SS, Meagher E, Nathanson KL, Feldman M, Ritchie MD, Rader DJ, For The Penn Medicine BioBank. 2022. The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population. J Pers Med 12:1974.

31.       Verma SS, Keat K, Li B, Hoffecker G, Risman M, Regeneron Genetics Center, Sangkuhl K, Whirl-Carrillo M, Dudek S, Verma A, Klein TE, Ritchie MD, Tuteja S. 2022. Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population. J Transl Med 20:550.

32.       Levin MG, Tsao NL, Singhal P, Liu C, Vy HMT, Paranjpe I, Backman JD, Bellomo TR, Bone WP, Biddinger KJ, Hui Q, Dikilitas O, Satterfield BA, Yang Y, Morley MP, Bradford Y, Burke M, Reza N, Charest B, Regeneron Genetics Center, Judy RL, Puckelwartz MJ, Hakonarson H, Khan A, Kottyan LC, Kullo I, Luo Y, McNally EM, Rasmussen-Torvik LJ, Day SM, Do R, Phillips LS, Ellinor PT, Nadkarni GN, Ritchie MD, Arany Z, Cappola TP, Margulies KB, Aragam KG, Haggerty CM, Joseph J, Sun YV, Voight BF, Damrauer SM. 2022. Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure. Nat Commun 13:6914.

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34.       Thibord F, Klarin D, Brody JA, Chen M-H, Levin MG, Chasman DI, Goode EL, Hveem K, Teder-Laving M, Martinez-Perez A, Aïssi D, Daian-Bacq D, Ito K, Natarajan P, Lutsey PL, Nadkarni GN, de Vries PS, Cuellar-Partida G, Wolford BN, Pattee JW, Kooperberg C, Braekkan SK, Li-Gao R, Saut N, Sept C, Germain M, Judy RL, Wiggins KL, Ko D, O’Donnell CJ, Taylor KD, Giulianini F, De Andrade M, Nøst TH, Boland A, Empana J-P, Koyama S, Gilliland T, Do R, Huffman JE, Wang X, Zhou W, Manuel Soria J, Carlos Souto J, Pankratz N, Haessler J, Hindberg K, Rosendaal FR, Turman C, Olaso R, Kember RL, Bartz TM, Lynch JA, Heckbert SR, Armasu SM, Brumpton B, Smadja DM, Jouven X, Komuro I, Clapham KR, Loos RJF, Willer CJ, Sabater-Lleal M, Pankow JS, Reiner AP, Morelli VM, Ridker PM, Vlieg A van H, Deleuze J-F, Kraft P, Rader DJ, Global Biobank Meta-Analysis Initiative; Estonian Biobank Research Team; 23andMe Research Team; Biobank Japan; CHARGE Hemostasis Working Group, Min Lee K, Psaty BM, Heidi Skogholt A, Emmerich J, Suchon P, Rich SS, Vy HMT, Tang W, Jackson RD, Hansen J-B, Morange P-E, Kabrhel C, Trégouët D-A, Damrauer SM, Johnson AD, Smith NL. 2022. Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors. Circulation 146:1225–1242.

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88.       Park J, Levin MG, Haggerty CM, Hartzel DN, Judy R, Kember RL, Reza N, Regeneron Genetics Center, Ritchie MD, Owens AT, Damrauer SM, Rader DJ. 2020. A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes. Genet Med Off J Am Coll Med Genet 22:102–111.

89.       Damrauer SM, Chaudhary K, Cho JH, Liang LW, Argulian E, Chan L, Dobbyn A, Guerraty MA, Judy R, Kay J, Kember RL, Levin MG, Saha A, Van Vleck T, Verma SS, Weaver J, Abul-Husn NS, Baras A, Chirinos JA, Drachman B, Kenny EE, Loos RJF, Narula J, Overton J, Reid J, Ritchie M, Sirugo G, Nadkarni G, Rader DJ, Do R. 2019. Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry. JAMA 322:2191–2202.

90.       Hoshino A, Wang W-J, Wada S, McDermott-Roe C, Evans CS, Gosis B, Morley MP, Rathi KS, Li J, Li K, Yang S, McManus MJ, Bowman C, Potluri P, Levin M, Damrauer S, Wallace DC, Holzbaur ELF, Arany Z. 2019. The ADP/ATP translocase drives mitophagy independent of nucleotide exchange. Nature 575:375–379.

91.       Park J, Damrauer SM, Baras A, Reid JG, Overton JD, Gonzalez-Alegre P. 2019. Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment. Neurol Genet 5:e358.

92.       Li R, Duan R, Kember RL, Rader DJ, Damrauer SM, Moore JH, Chen Y. 2019. A regression framework to uncover pleiotropy in large-scale electronic health record data. J Am Med Inform Assoc JAMIA 26:1083–1090.

93.       Birtwell D, Williams H, Pyeritz R, Damrauer S, Mowery DL. 2019. Carnival: A Graph-Based Data Integration and Query Tool to Support Patient Cohort Generation for Clinical Research. Stud Health Technol Inform 264:35–39.

94.       Haggerty CM, Damrauer SM, Levin MG, Birtwell D, Carey DJ, Golden AM, Hartzel DN, Hu Y, Judy R, Kelly MA, Kember RL, Lester Kirchner H, Leader JB, Liang L, McDermott-Roe C, Babu A, Morley M, Nealy Z, Person TN, Pulenthiran A, Small A, Smelser DT, Stahl RC, Sturm AC, Williams H, Baras A, Margulies KB, Cappola TP, Dewey FE, Verma A, Zhang X, Correa A, Hall ME, Wilson JG, Ritchie MD, Rader DJ, Murray MF, Fornwalt BK, Arany Z. 2019. Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants. Circulation 140:42–54.

95.       Damrauer SM, Hardie K, Kember RL, Judy R, Birtwell D, Williams H, Rader DJ, Pyeritz RE. 2019. FBN1 Coding Variants and Nonsyndromic Aortic Disease. Circ Genomic Precis Med 12:e002454.

96.       Kranzler HR, Zhou H, Kember RL, Vickers Smith R, Justice AC, Damrauer S, Tsao PS, Klarin D, Baras A, Reid J, Overton J, Rader DJ, Cheng Z, Tate JP, Becker WC, Concato J, Xu K, Polimanti R, Zhao H, Gelernter J. 2019. Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations. Nat Commun 10:1499.

97.       Small AM, Kiss DH, Anwaruddin S, Giri J, Han Y, Zhao L, Salvador L, Cvijic ME, Li Z, Chirinos JA, Damrauer SM, Rader DJ. 2019. Soluble FMS-Like Tyrosine Kinase-1 Is a Circulating Biomarker Associated With Calcific Aortic Stenosis. J Am Coll Cardiol 73:1364–1365.

98.       AlDubayan SH, Pyle LC, Gamulin M, Kulis T, Moore ND, Taylor-Weiner A, Hamid AA, Reardon B, Wubbenhorst B, Godse R, Vaughn DJ, Jacobs LA, Meien S, Grgic M, Kastelan Z, Markt SC, Damrauer SM, Rader DJ, Kember RL, Loud JT, Kanetsky PA, Greene MH, Sweeney CJ, Kubisch C, Nathanson KL, Van Allen EM, Stewart DR, Lessel D, Regeneron Genetics Center (RGC) Research Team. 2019. Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors. JAMA Oncol 5:514–522.

99.       Levin MG, Kember RL, Judy R, Birtwell D, Williams H, Arany Z, Giri J, Guerraty M, Cappola T, Regeneron Genetics Center, Chen J, Rader DJ, Damrauer SM. 2018. Genomic Risk Stratification Predicts All-Cause Mortality After Cardiac Catheterization. Circ Genomic Precis Med 11:e002352.

100.     Klarin D, Damrauer SM, Cho K, Sun YV, Teslovich TM, Honerlaw J, Gagnon DR, DuVall SL, Li J, Peloso GM, Chaffin M, Small AM, Huang J, Tang H, Lynch JA, Ho Y-L, Liu DJ, Emdin CA, Li AH, Huffman JE, Lee JS, Natarajan P, Chowdhury R, Saleheen D, Vujkovic M, Baras A, Pyarajan S, Di Angelantonio E, Neale BM, Naheed A, Khera AV, Danesh J, Chang K-M, Abecasis G, Willer C, Dewey FE, Carey DJ, Global Lipids Genetics Consortium, Myocardial Infarction Genetics (MIGen) Consortium, Geisinger-Regeneron DiscovEHR Collaboration, VA Million Veteran Program, Concato J, Gaziano JM, O’Donnell CJ, Tsao PS, Kathiresan S, Rader DJ, Wilson PWF, Assimes TL. 2018. Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. Nat Genet 50:1514–1523.

101.     Gusarova V, O’Dushlaine C, Teslovich TM, Benotti PN, Mirshahi T, Gottesman O, Van Hout CV, Murray MF, Mahajan A, Nielsen JB, Fritsche L, Wulff AB, Gudbjartsson DF, Sjögren M, Emdin CA, Scott RA, Lee W-J, Small A, Kwee LC, Dwivedi OP, Prasad RB, Bruse S, Lopez AE, Penn J, Marcketta A, Leader JB, Still CD, Kirchner HL, Mirshahi UL, Wardeh AH, Hartle CM, Habegger L, Fetterolf SN, Tusie-Luna T, Morris AP, Holm H, Steinthorsdottir V, Sulem P, Thorsteinsdottir U, Rotter JI, Chuang L-M, Damrauer S, Birtwell D, Brummett CM, Khera AV, Natarajan P, Orho-Melander M, Flannick J, Lotta LA, Willer CJ, Holmen OL, Ritchie MD, Ledbetter DH, Murphy AJ, Borecki IB, Reid JG, Overton JD, Hansson O, Groop L, Shah SH, Kraus WE, Rader DJ, Chen Y-DI, Hveem K, Wareham NJ, Kathiresan S, Melander O, Stefansson K, Nordestgaard BG, Tybjærg-Hansen A, Abecasis GR, Altshuler D, Florez JC, Boehnke M, McCarthy MI, Yancopoulos GD, Carey DJ, Shuldiner AR, Baras A, Dewey FE, Gromada J. 2018. Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes. Nat Commun 9:2252.

102.     Abul-Husn NS, Cheng X, Li AH, Xin Y, Schurmann C, Stevis P, Liu Y, Kozlitina J, Stender S, Wood GC, Stepanchick AN, Still MD, McCarthy S, O’Dushlaine C, Packer JS, Balasubramanian S, Gosalia N, Esopi D, Kim SY, Mukherjee S, Lopez AE, Fuller ED, Penn J, Chu X, Luo JZ, Mirshahi UL, Carey DJ, Still CD, Feldman MD, Small A, Damrauer SM, Rader DJ, Zambrowicz B, Olson W, Murphy AJ, Borecki IB, Shuldiner AR, Reid JG, Overton JD, Yancopoulos GD, Hobbs HH, Cohen JC, Gottesman O, Teslovich TM, Baras A, Mirshahi T, Gromada J, Dewey FE. 2018. A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease. N Engl J Med 378:1096–1106.

103.     Zhao W, Rasheed A, Tikkanen E, Lee J-J, Butterworth AS, Howson JMM, Assimes TL, Chowdhury R, Orho-Melander M, Damrauer S, Small A, Asma S, Imamura M, Yamauch T, Chambers JC, Chen P, Sapkota BR, Shah N, Jabeen S, Surendran P, Lu Y, Zhang W, Imran A, Abbas S, Majeed F, Trindade K, Qamar N, Mallick NH, Yaqoob Z, Saghir T, Rizvi SNH, Memon A, Rasheed SZ, Memon F-U-R, Mehmood K, Ahmed N, Qureshi IH, Tanveer-Us-Salam  null, Iqbal W, Malik U, Mehra N, Kuo JZ, Sheu WH-H, Guo X, Hsiung CA, Juang J-MJ, Taylor KD, Hung Y-J, Lee W-J, Quertermous T, Lee I-T, Hsu C-C, Bottinger EP, Ralhan S, Teo YY, Wang T-D, Alam DS, Di Angelantonio E, Epstein S, Nielsen SF, Nordestgaard BG, Tybjaerg-Hansen A, Young R, CHD Exome+ Consortium, Benn M, Frikke-Schmidt R, Kamstrup PR, EPIC-CVD Consortium, EPIC-Interact Consortium, Michigan Biobank, Jukema JW, Sattar N, Smit R, Chung R-H, Liang K-W, Anand S, Sanghera DK, Ripatti S, Loos RJF, Kooner JS, Tai ES, Rotter JI, Chen Y-DI, Frossard P, Maeda S, Kadowaki T, Reilly M, Pare G, Melander O, Salomaa V, Rader DJ, Danesh J, Voight BF, Saleheen D. 2017. Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. Nat Genet 49:1450–1457.

104.     Dewey FE, Gusarova V, Dunbar RL, O’Dushlaine C, Schurmann C, Gottesman O, McCarthy S, Van Hout CV, Bruse S, Dansky HM, Leader JB, Murray MF, Ritchie MD, Kirchner HL, Habegger L, Lopez A, Penn J, Zhao A, Shao W, Stahl N, Murphy AJ, Hamon S, Bouzelmat A, Zhang R, Shumel B, Pordy R, Gipe D, Herman GA, Sheu WHH, Lee I-T, Liang K-W, Guo X, Rotter JI, Chen Y-DI, Kraus WE, Shah SH, Damrauer S, Small A, Rader DJ, Wulff AB, Nordestgaard BG, Tybjærg-Hansen A, van den Hoek AM, Princen HMG, Ledbetter DH, Carey DJ, Overton JD, Reid JG, Sasiela WJ, Banerjee P, Shuldiner AR, Borecki IB, Teslovich TM, Yancopoulos GD, Mellis SJ, Gromada J, Baras A. 2017. Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease. N Engl J Med 377:211–221.

105.     Salowe R, O’Keefe L, Merriam S, Lee R, Khachatryan N, Sankar P, Miller-Ellis E, Lehman A, Addis V, Murphy W, Henderer J, Maguire M, O’Brien J. 2017. Cost and yield considerations when expanding recruitment for genetic studies: the primary open-angle African American glaucoma genetics study. BMC Med Res Methodol 17:101.

106.     Howson JMM, Zhao W, Barnes DR, Ho W-K, Young R, Paul DS, Waite LL, Freitag DF, Fauman EB, Salfati EL, Sun BB, Eicher JD, Johnson AD, Sheu WHH, Nielsen SF, Lin W-Y, Surendran P, Malarstig A, Wilk JB, Tybjærg-Hansen A, Rasmussen KL, Kamstrup PR, Deloukas P, Erdmann J, Kathiresan S, Samani NJ, Schunkert H, Watkins H, CARDIoGRAMplusC4D, Do R, Rader DJ, Johnson JA, Hazen SL, Quyyumi AA, Spertus JA, Pepine CJ, Franceschini N, Justice A, Reiner AP, Buyske S, Hindorff LA, Carty CL, North KE, Kooperberg C, Boerwinkle E, Young K, Graff M, Peters U, Absher D, Hsiung CA, Lee W-J, Taylor KD, Chen Y-H, Lee I-T, Guo X, Chung R-H, Hung Y-J, Rotter JI, Juang J-MJ, Quertermous T, Wang T-D, Rasheed A, Frossard P, Alam DS, Majumder AAS, Di Angelantonio E, Chowdhury R, EPIC-CVD, Chen Y-DI, Nordestgaard BG, Assimes TL, Danesh J, Butterworth AS, Saleheen D. 2017. Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms. Nat Genet 49:1113–1119.

107.     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 S-K, Weeke PE, Müller-Nurasyid M, Smith JG, Brody JA, Niemeijer MN, Dörr M, Trompet S, Huffman J, Gustafsson S, Schurmann C, Kleber ME, Lyytikäinen L-P, 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 L-C, 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 Y-DI, 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 K-H, Sinner MF, Lin HJ, Guo X, METASTROKE Consortium of the ISGC, Neurology Working Group of the CHARGE Consortium, Dichgans M, Ingelsson E, Kooperberg C, Melander O, Loos RJF, Laurikka J, Conen D, Rosand J, van der Harst P, Lokki M-L, 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, AFGen Consortium. 2017. Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. Nat Genet 49:946–952.