Medical College of Wisconsin
CTSICores SearchResearch InformaticsREDCap

CURRICULUM VITAE

Ulrich Broeckel MD
Chief, Center Associate Director, Professor
Department of Pediatrics
Division of Genomic Pediatrics


OFFICE ADDRESS:
Translational and Biomedical Research Center
8701 Watertown Plank Rd
Milwaukee, WI 53226

FACULTY APPOINTMENTS:
01/01/2019 - Present Adjunct Professor, School of Pharmacy, Medical College of Wisconisn


BIBLIOGRAPHY
Refereed Journal Publications/Original Papers
1. Owen DL, Mahmud SA, Sjaastad LE, Williams JB, Spanier JA, Simeonov DR, Ruscher R, Huang W, Proekt I, Miller CN, Hekim C, Jeschke JC, Aggarwal P, Broeckel U, LaRue RS, Henzler CM, Alegre ML, Anderson MS, August A, Marson A, Zheng Y, Williams CB, Farrar MA. Thymic regulatory T cells arise via two distinct developmental programs. Nat Immunol. 2019 Feb;20(2):195-205. PMCID: PMC6650268
2. Zhao Y, Rafatian N, Feric NT, Cox BJ, Aschar-Sobbi R, Wang EY, Aggarwal P, Zhang B, Conant G, Ronaldson-Bouchard K, Pahnke A, Protze S, Lee JH, Davenport Huyer L, Jekic D, Wickeler A, Naguib HE, Keller GM, Vunjak-Novakovic G, Broeckel U, Backx PH, Radisic M. A Platform for Generation of Chamber-Specific Cardiac Tissues and Disease Modeling. Cell. 2019 Feb 07;176(4):913-927.e18. PMCID: PMC6456036
3. de Vries PS, Brown MR, Bentley AR, Sung YJ, Winkler TW, Ntalla I, Schwander K, Kraja AT, Guo X, Franceschini N, Cheng CY, Sim X, Vojinovic D, Huffman JE, Musani SK, Li C, Feitosa MF, Richard MA, Noordam R, Aschard H, Bartz TM, Bielak LF, Deng X, Dorajoo R, Lohman KK, Manning AK, Rankinen T, Smith AV, Tajuddin SM, Evangelou E, Graff M, Alver M, Boissel M, Chai JF, Chen X, Divers J, Gandin I, Gao C, Goel A, Hagemeijer Y, Harris SE, Hartwig FP, He M, Horimoto ARVR, Hsu FC, Jackson AU, Kasturiratne A, Komulainen P, Kühnel B, Laguzzi F, Lee JH, Luan J, Lyytikäinen LP, Matoba N, Nolte IM, Pietzner M, Riaz M, Said MA, Scott RA, Sofer T, Stančáková A, Takeuchi F, Tayo BO, van der Most PJ, Varga TV, Wang Y, Ware EB, Wen W, Yanek LR, Zhang W, Zhao JH, Afaq S, Amin N, Amini M, Arking DE, Aung T, Ballantyne C, Boerwinkle E, Broeckel U, Campbell A, Canouil M, Charumathi S, Chen YI, Connell JM, de Faire U, de Las Fuentes L, de Mutsert R, de Silva HJ, Ding J, Dominiczak AF, Duan Q, Eaton CB, Eppinga RN, Faul JD, Fisher V, Forrester T, Franco OH, Friedlander Y, Ghanbari M, Giulianini F, Grabe HJ, Grove ML, Gu CC, Harris TB, Heikkinen S, Heng CK, Hirata M, Hixson JE, Howard BV, Ikram MA, InterAct Consortium, Jacobs DR, Johnson C, Jonas JB, Kammerer CM, Katsuya T, Khor CC, Kilpeläinen TO, Koh WP, Koistinen HA, Kolcic I, Kooperberg C, Krieger JE, Kritchevsky SB, Kubo M, Kuusisto J, Lakka TA, Langefeld CD, Langenberg C, Launer LJ, Lehne B, Lemaitre RN, Li Y, Liang J, Liu J, Liu K, Loh M, Louie T, Mägi R, Manichaikul AW, McKenzie CA, Meitinger T, Metspalu A, Milaneschi Y, Milani L, Mohlke KL, Mosley TH, Mukamal KJ, Nalls MA, Nauck M, Nelson CP, Sotoodehnia N, O'Connell JR, Palmer ND, Pazoki R, Pedersen NL, Peters A, Peyser PA, Polasek O, Poulter N, Raffel LJ, Raitakari OT, Reiner AP, Rice TK, Rich SS, Robino A, Robinson JG, Rose LM, Rudan I, Schmidt CO, Schreiner PJ, Scott WR, Sever P, Shi Y, Sidney S, Sims M, Smith BH, Smith JA, Snieder H, Starr JM, Strauch K, Tan N, Taylor KD, Teo YY, Tham YC, Uitterlinden AG, van Heemst D, Vuckovic D, Waldenberger M, Wang L, Wang Y, Wang Z, Wei WB, Williams C, Wilson G, Wojczynski MK, Yao J, Yu B, Yu C, Yuan JM, Zhao W, Zonderman AB, Becker DM, Boehnke M, Bowden DW, Chambers JC, Deary IJ, Esko T, Farrall M, Franks PW, Freedman BI, Froguel P, Gasparini P, Gieger C, Horta BL, Kamatani Y, Kato N, Kooner JS, Laakso M, Leander K, Lehtimäki T, Lifelines Cohort, Groningen, The Netherlands (Lifelines Cohort Study), Magnusson PKE, Penninx B, Pereira AC, Rauramaa R, Samani NJ, Scott J, Shu XO, van der Harst P, Wagenknecht LE, Wang YX, Wareham NJ, Watkins H, Weir DR, Wickremasinghe AR, Zheng W, Elliott P, North KE, Bouchard C, Evans MK, Gudnason V, Liu CT, Liu Y, Psaty BM, Ridker PM, van Dam RM, Kardia SLR, Zhu X, Rotimi CN, Mook-Kanamori DO, Fornage M, Kelly TN, Fox ER, Hayward C, van Duijn CM, Tai ES, Wong TY, Liu J, Rotter JI, Gauderman WJ, Province MA, Munroe PB, Rice K, Chasman DI, Cupples LA, Rao DC, Morriso. Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. Am J Epidemiol. 2019 Jun 01;188(6):1033-1054. PMCID: PMC6545280
4. Bentley AR, Sung YJ, Brown MR, Winkler TW, Kraja AT, Ntalla I, Schwander K, Chasman DI, Lim E, Deng X, Guo X, Liu J, Lu Y, Cheng CY, Sim X, Vojinovic D, Huffman JE, Musani SK, Li C, Feitosa MF, Richard MA, Noordam R, Baker J, Chen G, Aschard H, Bartz TM, Ding J, Dorajoo R, Manning AK, Rankinen T, Smith AV, Tajuddin SM, Zhao W, Graff M, Alver M, Boissel M, Chai JF, Chen X, Divers J, Evangelou E, Gao C, Goel A, Hagemeijer Y, Harris SE, Hartwig FP, He M, Horimoto ARVR, Hsu FC, Hung YJ, Jackson AU, Kasturiratne A, Komulainen P, Kühnel B, Leander K, Lin KH, Luan J, Lyytikäinen LP, Matoba N, Nolte IM, Pietzner M, Prins B, Riaz M, Robino A, Said MA, Schupf N, Scott RA, Sofer T, Stancáková A, Takeuchi F, Tayo BO, van der Most PJ, Varga TV, Wang TD, Wang Y, Ware EB, Wen W, Xiang YB, Yanek LR, Zhang W, Zhao JH, Adeyemo A, Afaq S, Amin N, Amini M, Arking DE, Arzumanyan Z, Aung T, Ballantyne C, Barr RG, Bielak LF, Boerwinkle E, Bottinger EP, Broeckel U, Brown M, Cade BE, Campbell A, Canouil M, Charumathi S, Chen YI, Christensen K, COGENT-Kidney Consortium, Concas MP, Connell JM, de Las Fuentes L, de Silva HJ, de Vries PS, Doumatey A, Duan Q, Eaton CB, Eppinga RN, Faul JD, Floyd JS, Forouhi NG, Forrester T, Friedlander Y, Gandin I, Gao H, Ghanbari M, Gharib SA, Gigante B, Giulianini F, Grabe HJ, Gu CC, Harris TB, Heikkinen S, Heng CK, Hirata M, Hixson JE, Ikram MA, EPIC-InterAct Consortium, Jia Y, Joehanes R, Johnson C, Jonas JB, Justice AE, Katsuya T, Khor CC, Kilpeläinen TO, Koh WP, Kolcic I, Kooperberg C, Krieger JE, Kritchevsky SB, Kubo M, Kuusisto J, Lakka TA, Langefeld CD, Langenberg C, Launer LJ, Lehne B, Lewis CE, Li Y, Liang J, Lin S, Liu CT, Liu J, Liu K, Loh M, Lohman KK, Louie T, Luzzi A, Mägi R, Mahajan A, Manichaikul AW, McKenzie CA, Meitinger T, Metspalu A, Milaneschi Y, Milani L, Mohlke KL, Momozawa Y, Morris AP, Murray AD, Nalls MA, Nauck M, Nelson CP, North KE, O'Connell JR, Palmer ND, Papanicolau GJ, Pedersen NL, Peters A, Peyser PA, Polasek O, Poulter N, Raitakari OT, Reiner AP, Renström F, Rice TK, Rich SS, Robinson JG, Rose LM, Rosendaal FR, Rudan I, Schmidt CO, Schreiner PJ, Scott WR, Sever P, Shi Y, Sidney S, Sims M, Smith JA, Snieder H, Starr JM, Strauch K, Stringham HM, Tan NYQ, Tang H, Taylor KD, Teo YY, Tham YC, Tiemeier H, Turner ST, Uitterlinden AG, Understanding Society Scientific Group, van Heemst D, Waldenberger M, Wang H, Wang L, Wang L, Wei WB, Williams CA, Wilson G Sr, Wojczynski MK, Yao J, Young K, Yu C, Yuan JM, Zhou J, Zonderman AB, Becker DM, Boehnke M, Bowden DW, Chambers JC, Cooper RS, de Faire U, Deary IJ, Elliott P, Esko T, Farrall M, Franks PW, Freedman BI, Froguel P, Gasparini P, Gieger C, Horta BL, Juang JJ, Kamatani Y, Kammerer CM, Kato N, Kooner JS, Laakso M, Laurie CC, Lee IT, Lehtimäki T, Lifelines Cohort, Magnusson PKE, Oldehinkel AJ, Penninx BWJH, Pereira AC, Rauramaa R, Redline S, Samani NJ, Scott J, Shu XO, van der Harst P, Wagenknecht LE, Wang JS, Wang YX, Wareham NJ, Watkins . Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. Nat Genet. 2019 Apr;51(4):636-648. PMCID: PMC6467258
5. Sung YJ, de Las Fuentes L, Winkler TW, Chasman DI, Bentley AR, Kraja AT, Ntalla I, Warren HR, Guo X, Schwander K, Manning AK, Brown MR, Aschard H, Feitosa MF, Franceschini N, Lu Y, Cheng CY, Sim X, Vojinovic D, Marten J, Musani SK, Kilpeläinen TO, Richard MA, Aslibekyan S, Bartz TM, Dorajoo R, Li C, Liu Y, Rankinen T, Smith AV, Tajuddin SM, Tayo BO, Zhao W, Zhou Y, Matoba N, Sofer T, Alver M, Amini M, Boissel M, Chai JF, Chen X, Divers J, Gandin I, Gao C, Giulianini F, Goel A, Harris SE, Hartwig FP, He M, Horimoto ARVR, Hsu FC, Jackson AU, Kammerer CM, Kasturiratne A, Komulainen P, Kühnel B, Leander K, Lee WJ, Lin KH, Luan J, Lyytikäinen LP, McKenzie CA, Nelson CP, Noordam R, Scott RA, Sheu WHH, Stančáková A, Takeuchi F, van der Most PJ, Varga TV, Waken RJ, Wang H, Wang Y, Ware EB, Weiss S, Wen W, Yanek LR, Zhang W, Zhao JH, Afaq S, Alfred T, Amin N, Arking DE, Aung T, Barr RG, Bielak LF, Boerwinkle E, Bottinger EP, Braund PS, Brody JA, Broeckel U, Cade B, Campbell A, Canouil M, Chakravarti A, Cocca M, Collins FS, Connell JM, de Mutsert R, de Silva HJ, Dörr M, Duan Q, Eaton CB, Ehret G, Evangelou E, Faul JD, Forouhi NG, Franco OH, Friedlander Y, Gao H, Gigante B, Gu CC, Gupta P, Hagenaars SP, Harris TB, He J, Heikkinen S, Heng CK, Hofman A, Howard BV, Hunt SC, Irvin MR, Jia Y, Katsuya T, Kaufman J, Kerrison ND, Khor CC, Koh WP, Koistinen HA, Kooperberg CB, Krieger JE, Kubo M, Kutalik Z, Kuusisto J, Lakka TA, Langefeld CD, Langenberg C, Launer LJ, Lee JH, Lehne B, Levy D, Lewis CE, Li Y, Lifelines Cohort Study, Lim SH, Liu CT, Liu J, Liu J, Liu Y, Loh M, Lohman KK, Louie T, Mägi R, Matsuda K, Meitinger T, Metspalu A, Milani L, Momozawa Y, Mosley TH Jr, Nalls MA, Nasri U, O'Connell JR, Ogunniyi A, Palmas WR, Palmer ND, Pankow JS, Pedersen NL, Peters A, Peyser PA, Polasek O, Porteous D, Raitakari OT, Renström F, Rice TK, Ridker PM, Robino A, Robinson JG, Rose LM, Rudan I, Sabanayagam C, Salako BL, Sandow K, Schmidt CO, Schreiner PJ, Scott WR, Sever P, Sims M, Sitlani CM, Smith BH, Smith JA, Snieder H, Starr JM, Strauch K, Tang H, Taylor KD, Teo YY, Tham YC, Uitterlinden AG, Waldenberger M, Wang L, Wang YX, Wei WB, Wilson G, Wojczynski MK, Xiang YB, Yao J, Yuan JM, Zonderman AB, Becker DM, Boehnke M, Bowden DW, Chambers JC, Chen YI, Weir DR, de Faire U, Deary IJ, Esko T, Farrall M, Forrester T, Freedman BI, Froguel P, Gasparini P, Gieger C, Horta BL, Hung YJ, Jonas JB, Kato N, Kooner JS, Laakso M, Lehtimäki T, Liang KW, Magnusson PKE, Oldehinkel AJ, Pereira AC, Perls T, Rauramaa R, Redline S, Rettig R, Samani NJ, Scott J, Shu XO, van der Harst P, Wagenknecht LE, Wareham NJ, Watkins H, Wickremasinghe AR, Wu T, Kamatani Y, Laurie CC, Bouchard C, Cooper RS, Evans MK, Gudnason V, Hixson J, Kardia SLR, Kritchevsky SB, Psaty BM, van Dam RM, Arnett DK, Mook-Kanamori DO, Fornage M, Fox ER, Hayward C, van Duijn CM, Tai ES, Wong TY, Loos RJF, Reiner AP, Rotimi CN, Bierut LJ, Zhu X, Cupples LA, Province MA, Rotter JI, Franks PW, Ri. A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure. Hum Mol Genet. 2019 Aug 01;28(15):2615-2633. PMCID: PMC6644157
6. Hoshitsuki K, Crews KR, Yang W, Smith CA, Hankins JS, Turner AJ, Broeckel U, McMillin GA, Relling MV, Haidar CE. Challenges in clinical implementation of CYP2D6 genotyping: choice of variants to test affects phenotype determination Genetics in Medicine. 2019.
7. Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, Johnson WC, Tsai M, Budoff M, Vasan RS, Cupples LA, Rotter JI, Rich SS, Post W, Mitchell BD, Correa A, Metspalu A, Wilson JG, Salomaa V, Kellis M, Daly MJ, Neale BM, McCarroll S, Surakka I, Esko T, Ganna A, Ripatti S, Kathiresan S, Natarajan P, NHLBI TOPMed Lipids Working Group. Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. Nat Commun. 2018 Aug 23;9(1):3493. PMCID: PMC6107495
8. Natarajan P, Peloso GM, Zekavat SM, Montasser M, Ganna A, Chaffin M, Khera AV, Zhou W, Bloom JM, Engreitz JM, Ernst J, O'Connell JR, Ruotsalainen SE, Alver M, Manichaikul A, Johnson WC, Perry JA, Poterba T, Seed C, Surakka IL, Esko T, Ripatti S, Salomaa V, Correa A, Vasan RS, Kellis M, Neale BM, Lander ES, Abecasis G, Mitchell B, Rich SS, Wilson JG, Cupples LA, Rotter JI, Willer CJ, Kathiresan S, NHLBI TOPMed Lipids Working Group. Deep-coverage whole genome sequences and blood lipids among 16,324 individuals. Nat Commun. 2018 Aug 23;9(1):3391. PMCID: PMC6107638
9. Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, Johnson WC, Tsai M, Budoff M, Vasan RS, Cupples LA, Rotter JI, Rich SS, Post W, Mitchell BD, Correa A, Metspalu A, Wilson JG, Salomaa V, Kellis M, Daly MJ, Neale BM, McCarroll S, Surakka I, Esko T, Ganna A, Ripatti S, Kathiresan S, Natarajan P, NHLBI TOPMed Lipids Working Group. Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. Nat Commun. 2018 Jul 04;9(1):2606. PMCID: PMC6031652
10. Maresso K, Broeckel U. Genomic methods in the diagnosis and treatment of pediatric kidney disease Pediatric Nephrology, Seventh Edition. 1 January 2015:499-523.
11. Beetz N, Harrison MD, Brede M, Zong X, Urbanski MJ, Sietmann A, Kaufling J, Lorkowski S, Barrot M, Seeliger MW, Vieira-Coelho MA, Hamet P, Gaudet D, Seda O, Tremblay J, Kotchen TA, Kaldunski M, Nüsing R, Szabo B, Jacob HJ, Cowley AW, Biel M, Stoll M, Lohse MJ, Broeckel U, Hein L. Phosducin influences sympathetic activity and prevents stress-induced hypertension in humans and mice Journal of Clinical Investigation. 4 January 2011;121(1):454.
12. Chauhan K, Devereux RB, Rao DC, Broeckel U, Gu CC, Hopkins P, Arnett DK. Adducin 1 (alpha) GLY460TRP variant is associated with left ventricular geometry in Caucasians and African Americans: The hyperGEN study International Journal of Molecular Epidemiology and Genetics. 2010;1(4):367-376.
13. Chauhan K, Devereux RB, Rao DC, Broeckel U, Gu CC, Hopkins P, Arnett DK. Adducin 1 (alpha) Gly460Trp variant is associated with left ventricular geometry in caucasians and african americans: The HyperGEN study International Journal of Molecular Epidemiology and Genetics. 2010;1(2):114-123.
14. Levine A, Kugathasan S, Annese V, Biank V, Leshinsky-Silver E, Davidovich O, Kimmel G, Shamir R, Palmieri O, Karban A, Broeckel U, Cucchiara S. Erratum: Pediatric onset Crohn's colitis is characterized by genotype-dependent age-related susceptibility (Inflamatory Bowel Diseases vol. 13 (1509-1515)) Inflammatory Bowel Diseases. 2008;14(12):1760.
15. Broeckel U, Hessner MJ. Single-nucleotide polymorphisms: Testing DNA variation for disease association Molecular Diagnostics: For the Clinical Laboratorian. 2005:111-120.
16. Dutka DP. Left-ventricular dysfunction. Lancet. 1998 Jan 31;351(9099):371; author reply 371-2.
17. Ni X, Zhou M, Wang H, He KY, Broeckel U, Hanis C, Kardia S, Redline S, Cooper RS, Tang H, Zhu X. Detecting fitness epistasis in recently admixed populations with genome-wide data. BMC Genomics. 2020 Jul 11;21(1):476. PMCID: PMC7353720
18. Kanchan K, Iyer K, Yanek LR, Carcamo-Orive I, Taub MA, Malley C, Baldwin K, Becker LC, Broeckel U, Cheng L, Cowan C, D'Antonio M, Frazer KA, Quertermous T, Mostoslavsky G, Murphy G, Rabinovitch M, Rader DJ, Steinberg MH, Topol E, Yang W, Knowles JW, Jaquish CE, Ruczinski I, Mathias RA. Genomic integrity of human induced pluripotent stem cells across nine studies in the NHLBI NextGen program. Stem Cell Res. 2020 Jul;46:101803. PMCID: PMC7575060
19. de Las Fuentes L, Sung YJ, Noordam R, Winkler T, Feitosa MF, Schwander K, Bentley AR, Brown MR, Guo X, Manning A, Chasman DI, Aschard H, Bartz TM, Bielak LF, Campbell A, Cheng CY, Dorajoo R, Hartwig FP, Horimoto ARVR, Li C, Li-Gao R, Liu Y, Marten J, Musani SK, Ntalla I, Rankinen T, Richard M, Sim X, Smith AV, Tajuddin SM, Tayo BO, Vojinovic D, Warren HR, Xuan D, Alver M, Boissel M, Chai JF, Chen X, Christensen K, Divers J, Evangelou E, Gao C, Girotto G, Harris SE, He M, Hsu FC, Kühnel B, Laguzzi F, Li X, Lyytikäinen LP, Nolte IM, Poveda A, Rauramaa R, Riaz M, Rueedi R, Shu XO, Snieder H, Sofer T, Takeuchi F, Verweij N, Ware EB, Weiss S, Yanek LR, Amin N, Arking DE, Arnett DK, Bergmann S, Boerwinkle E, Brody JA, Broeckel U, Brumat M, Burke G, Cabrera CP, Canouil M, Chee ML, Chen YI, Cocca M, Connell J, de Silva HJ, de Vries PS, Eiriksdottir G, Faul JD, Fisher V, Forrester T, Fox EF, Friedlander Y, Gao H, Gigante B, Giulianini F, Gu CC, Gu D, Harris TB, He J, Heikkinen S, Heng CK, Hunt S, Ikram MA, Irvin MR, Kähönen M, Kavousi M, Khor CC, Kilpeläinen TO, Koh WP, Komulainen P, Kraja AT, Krieger JE, Langefeld CD, Li Y, Liang J, Liewald DCM, Liu CT, Liu J, Lohman KK, Mägi R, McKenzie CA, Meitinger T, Metspalu A, Milaneschi Y, Milani L, Mook-Kanamori DO, Nalls MA, Nelson CP, Norris JM, O'Connell J, Ogunniyi A, Padmanabhan S, Palmer ND, Pedersen NL, Perls T, Peters A, Petersmann A, Peyser PA, Polasek O, Porteous DJ, Raffel LJ, Rice TK, Rotter JI, Rudan I, Rueda-Ochoa OL, Sabanayagam C, Salako BL, Schreiner PJ, Shikany JM, Sidney SS, Sims M, Sitlani CM, Smith JA, Starr JM, Strauch K, Swertz MA, Teumer A, Tham YC, Uitterlinden AG, Vaidya D, van der Ende MY, Waldenberger M, Wang L, Wang YX, Wei WB, Weir DR, Wen W, Yao J, Yu B, Yu C, Yuan JM, Zhao W, Zonderman AB, Becker DM, Bowden DW, Deary IJ, Dörr M, Esko T, Freedman BI, Froguel P, Gasparini P, Gieger C, Jonas JB, Kammerer CM, Kato N, Lakka TA, Leander K, Lehtimäki T, Lifelines Cohort Study, Magnusson PKE, Marques-Vidal P, Penninx BWJH, Samani NJ, van der Harst P, Wagenknecht LE, Wu T, Zheng W, Zhu X, Bouchard C, Cooper RS, Correa A, Evans MK, Gudnason V, Hayward C, Horta BL, Kelly TN, Kritchevsky SB, Levy D, Palmas WR, Pereira AC, Province MM, Psaty BM, Ridker PM, Rotimi CN, Tai ES, van Dam RM, van Duijn CM, Wong TY, Rice K, Gauderman WJ, Morrison AC, North KE, Kardia SLR, Caulfield MJ, Elliott P, Munroe PB, Franks PW, Rao DC, Fornage M. Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci. Mol Psychiatry. 2021 Jun;26(6):2111-2125. PMCID: PMC7641978
20. Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, Johnson WC, Tsai M, Budoff M, Vasan RS, Cupples LA, Rotter JI, Rich SS, Post W, Mitchell BD, Correa A, Metspalu A, Wilson JG, Salomaa V, Kellis M, Daly MJ, Neale BM, McCarroll S, Surakka I, Esko T, Ganna A, Ripatti S, Kathiresan S, Natarajan P, NHLBI TOPMed Lipids Working Group. Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. Nat Commun. 2020 Apr 01;11(1):1715. PMCID: PMC7113276
21. de Las Fuentes L, Sung YJ, Sitlani CM, Avery CL, Bartz TM, Keyser C, Evans DS, Li X, Musani SK, Ruiter R, Smith AV, Sun F, Trompet S, Xu H, Arnett DK, Bis JC, Broeckel U, Busch EL, Chen YI, Correa A, Cummings SR, Floyd JS, Ford I, Guo X, Harris TB, Ikram MA, Lange L, Launer LJ, Reiner AP, Schwander K, Smith NL, Sotoodehnia N, Stewart JD, Stott DJ, Stürmer T, Taylor KD, Uitterlinden A, Vasan RS, Wiggins KL, Cupples LA, Gudnason V, Heckbert SR, Jukema JW, Liu Y, Psaty BM, Rao DC, Rotter JI, Stricker B, Wilson JG, Whitsel EA. Genome-wide meta-analysis of variant-by-diuretic interactions as modulators of lipid traits in persons of European and African ancestry. Pharmacogenomics J. 2020 Jun;20(3):482-493. PMCID: PMC7260079
22. Kachroo P, Hecker J, Chawes BL, Ahluwalia TS, Cho MH, Qiao D, Kelly RS, Chu SH, Virkud YV, Huang M, Barnes KC, Burchard EG, Eng C, Hu D, Celedón JC, Daya M, Levin AM, Gui H, Williams LK, Forno E, Mak ACY, Avila L, Soto-Quiros ME, Cloutier MM, Acosta-Pérez E, Canino G, Bønnelykke K, Bisgaard H, Raby BA, Lange C, Weiss ST, Lasky-Su JA, National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium. Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma. Chest. 2019 Dec;156(6):1068-1079. PMCID: PMC6904857
23. Gaedigk A, Turner A, Everts RE, Scott SA, Aggarwal P, Broeckel U, McMillin GA, Melis R, Boone EC, Pratt VM, Kalman LV. Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles: A GeT-RM Collaborative Project. J Mol Diagn. 2019 Nov;21(6):1034-1052. PMCID: PMC6854474
24. Hoshitsuki K, Crews KR, Yang W, Smith CA, Hankins JS, Turner AJ, Broeckel U, McMillin GA, Relling MV, Haidar CE. Challenges in clinical implementation of CYP2D6 genotyping: choice of variants to test affects phenotype determination. Genet Med. 2020 Jan;22(1):232-233. PMCID: PMC7702299
25. Broeckel U, Shiozawa M, Kissebah AH, Provoost AP, Jacob HJ. Susceptibility genes for end-organ damage. New strategies to understand diabetic and hypertensive nephropathy. Nephrol Dial Transplant. 1998 Apr;13(4):840-2.
26. Schunkert H, Broeckel U, Hense HW, Keil U, Riegger GA. Left-ventricular dysfunction. Lancet. 1998 Jan 31;351(9099):372.
27. Hense HW, Gneiting B, Muscholl M, Broeckel U, Kuch B, Doering A, Riegger GA, Schunkert H. The associations of body size and body composition with left ventricular mass: impacts for indexation in adults. J Am Coll Cardiol. 1998 Aug;32(2):451-7.
28. Schunkert H, Hengstenberg C, Holmer SR, Broeckel U, Luchner A, Muscholl MW, Kürzinger S, Döring A, Hense HW, Riegger GA. Lack of association between a polymorphism of the aldosterone synthase gene and left ventricular structure. Circulation. 1999 May 04;99(17):2255-60.
29. Zhu X, McKenzie CA, Forrester T, Nickerson DA, Broeckel U, Schunkert H, Doering A, Jacob HJ, Cooper RS, Rieder MJ. Localization of a small genomic region associated with elevated ACE. Am J Hum Genet. 2000 Nov;67(5):1144-53. PMCID: PMC1288557
30. Schork NJ, Fallin D, Thiel B, Xu X, Broeckel U, Jacob HJ, Cohen D. The future of genetic case-control studies. Adv Genet. 2001;42:191-212.
31. Broeckel U, Hengstenberg C, Mayer B, Holmer S, Martin LJ, Comuzzie AG, Blangero J, Nürnberg P, Reis A, Riegger GA, Jacob HJ, Schunkert H. A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet. 2002 Feb;30(2):210-4.
32. Kotchen TA, Broeckel U, Grim CE, Hamet P, Jacob H, Kaldunski ML, Kotchen JM, Schork NJ, Tonellato PJ, Cowley AW Jr. Identification of hypertension-related QTLs in African American sib pairs. Hypertension. 2002 Nov;40(5):634-9.
33. Fischer M, Baessler A, Hense HW, Hengstenberg C, Muscholl M, Holmer S, Döring A, Broeckel U, Riegger G, Schunkert H. Prevalence of left ventricular diastolic dysfunction in the community. Results from a Doppler echocardiographic-based survey of a population sample. Eur Heart J. 2003 Feb;24(4):320-8.
34. Broeckel U, Schork NJ. Identifying genes and genetic variation underlying human diseases and complex phenotypes via recombination mapping. J Physiol. 2004 Jan 01;554(Pt 1):40-5. PMCID: PMC1664744
35. Arnett DK, de las Fuentes L, Broeckel U. Genes for left ventricular hypertrophy. Curr Hypertens Rep. 2004 Feb;6(1):36-41.
36. Kugathasan S, Collins N, Maresso K, Hoffmann RG, Stephens M, Werlin SL, Rudolph C, Broeckel U. CARD15 gene mutations and risk for early surgery in pediatric-onset Crohn's disease. Clin Gastroenterol Hepatol. 2004 Nov;2(11):1003-9.
37. Fischer M, Broeckel U, Holmer S, Baessler A, Hengstenberg C, Mayer B, Erdmann J, Klein G, Riegger G, Jacob HJ, Schunkert H. Distinct heritable patterns of angiographic coronary artery disease in families with myocardial infarction. Circulation. 2005 Feb 22;111(7):855-62.
38. Hamet P, Merlo E, Seda O, Broeckel U, Tremblay J, Kaldunski M, Gaudet D, Bouchard G, Deslauriers B, Gagnon F, Antoniol G, Pausová Z, Labuda M, Jomphe M, Gossard F, Tremblay G, Kirova R, Tonellato P, Orlov SN, Pintos J, Platko J, Hudson TJ, Rioux JD, Kotchen TA, Cowley AW Jr. Quantitative founder-effect analysis of French Canadian families identifies specific loci contributing to metabolic phenotypes of hypertension. Am J Hum Genet. 2005 May;76(5):815-32. PMCID: PMC1199371
39. Kugathasan S, Loizides A, Babusukumar U, McGuire E, Wang T, Hooper P, Nebel J, Kofman G, Noel R, Broeckel U, Tolia V. Comparative phenotypic and CARD15 mutational analysis among African American, Hispanic, and White children with Crohn's disease. Inflamm Bowel Dis. 2005 Jul;11(7):631-8.
40. Maloney JP, Broeckel U. Epidemiology, risk factors, and genetics of high-altitude-related pulmonary disease. Clin Chest Med. 2005 Sep;26(3):395-404, v.
41. Pelech AN, Broeckel U. Toward the etiologies of congenital heart diseases. Clin Perinatol. 2005 Dec;32(4):825-44, vii.
42. Friedrichs F, Brescianini S, Annese V, Latiano A, Berger K, Kugathasan S, Broeckel U, Nikolaus S, Daly MJ, Schreiber S, Rioux JD, Stoll M. Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men. Hum Genet. 2006 Apr;119(3):305-11.
43. Babusukumar U, Wang T, McGuire E, Broeckel U, Kugathasan S. Contribution of OCTN variants within the IBD5 locus to pediatric onset Crohn's disease. Am J Gastroenterol. 2006 Jun;101(6):1354-61.
44. Broeckel U, Maresso K, Kugathasan S. Functional genomics and its implications for molecular medicine. Pediatr Clin North Am. 2006 Oct;53(5):807-16, vii.
45. Broeckel U, Maresso K, Martin LJ. Linkage analysis for complex diseases using variance component analysis: SOLAR. Methods Mol Med. 2006;128:91-100.
46. Biank V, Friedrichs F, Babusukumar U, Wang T, Stoll M, Broeckel U, Kugathasan S. DLG5 R30Q variant is a female-specific protective factor in pediatric onset Crohn's disease. Am J Gastroenterol. 2007 Feb;102(2):391-8.
47. Sedlacek K, Neureuther K, Mueller JC, Stark K, Fischer M, Baessler A, Reinhard W, Broeckel U, Lieb W, Erdmann J, Schunkert H, Riegger G, Illig T, Meitinger T, Hengstenberg C. Lymphotoxin-alpha and galectin-2 SNPs are not associated with myocardial infarction in two different German populations. J Mol Med (Berl). 2007 Sep;85(9):997-1004.
48. Broeckel U, Hengstenberg C, Mayer B, Maresso K, Gaudet D, Seda O, Tremblay J, Holmer S, Erdmann J, Glöckner C, Harrison M, Martin LJ, Williams JT, Schmitz G, Riegger GA, Jacob HJ, Hamet P, Schunkert H. A locus on chromosome 10 influences C-reactive protein levels in two independent populations. Hum Genet. 2007 Aug;122(1):95-102.
49. Biank V, Broeckel U, Kugathasan S. Pediatric inflammatory bowel disease: clinical and molecular genetics. Inflamm Bowel Dis. 2007 Nov;13(11):1430-8.
50. Luchtefeld M, Schunkert H, Stoll M, Selle T, Lorier R, Grote K, Sagebiel C, Jagavelu K, Tietge UJ, Assmus U, Streetz K, Hengstenberg C, Fischer M, Mayer B, Maresso K, El Mokhtari NE, Schreiber S, Müller W, Bavendiek U, Grothusen C, Drexler H, Trautwein C, Broeckel U, Schieffer B. Signal transducer of inflammation gp130 modulates atherosclerosis in mice and man. J Exp Med. 2007 Aug 06;204(8):1935-44. PMCID: PMC2118681
51. Levine A, Kugathasan S, Annese V, Biank V, Leshinsky-Silver E, Davidovich O, Kimmel G, Shamir R, Palmieri O, Karban A, Broeckel U, Cucchiara S. Pediatric onset Crohn's colitis is characterized by genotype-dependent age-related susceptibility. Inflamm Bowel Dis. 2007 Dec;13(12):1509-15.
52. Maresso K, Broeckel U. Genotyping platforms for mass-throughput genotyping with SNPs, including human genome-wide scans. Adv Genet. 2008;60:107-39.
53. Harrison M, Maresso K, Broeckel U. Genetic determinants of hypertension: an update. Curr Hypertens Rep. 2008 Dec;10(6):488-95.
54. Maresso K, Broeckel U. The role of genomics in the neonatal ICU. Clin Perinatol. 2009 Mar;36(1):189-204.
55. Arnett DK, Li N, Tang W, Rao DC, Devereux RB, Claas SA, Kraemer R, Broeckel U. Genome-wide association study identifies single-nucleotide polymorphism in KCNB1 associated with left ventricular mass in humans: the HyperGEN Study. BMC Med Genet. 2009 May 19;10:43. PMCID: PMC2692849
56. Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U, Hessner MJ, Verbsky J. An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med. 2009 Jun 04;360(23):2438-44. PMCID: PMC2803085
57. Arnett DK, Devereux RB, Rao DC, Li N, Tang W, Kraemer R, Claas SA, Leon JM, Broeckel U. Novel genetic variants contributing to left ventricular hypertrophy: the HyperGEN study. J Hypertens. 2009 Aug;27(8):1585-93. PMCID: PMC2868312
58. Beetz N, Harrison MD, Brede M, Zong X, Urbanski MJ, Sietmann A, Kaufling J, Lorkowski S, Barrot M, Seeliger MW, Vieira-Coelho MA, Hamet P, Gaudet D, Seda O, Tremblay J, Kotchen TA, Kaldunski M, Nüsing R, Szabo B, Jacob HJ, Cowley AW Jr, Biel M, Stoll M, Lohse MJ, Broeckel U, Hein L. Phosducin influences sympathetic activity and prevents stress-induced hypertension in humans and mice. J Clin Invest. 2009 Dec;119(12):3597-3612. PMCID: PMC2786789
59. Chauhan K, Devereux RB, Rao D, Broeckel U, Gu CC, Hopkins P, Arnett DK. Adducin 1 (alpha) Gly460Trp variant is associated with left ventricular geometry in Caucasians and African Americans: The HyperGEN Study. Int J Mol Epidemiol Genet. 2010 Feb 26;1(4):367-76. PMCID: PMC3076776
60. Tomita-Mitchell A, Mahnke DK, Larson JM, Ghanta S, Feng Y, Simpson PM, Broeckel U, Duffy K, Tweddell JS, Grossman WJ, Routes JM, Mitchell ME. Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease. Physiol Genomics. 2010 Sep;42A(1):52-60. PMCID: PMC2957771
61. Melton PE, Rutherford S, Voruganti VS, Göring HH, Laston S, Haack K, Comuzzie AG, Dyer TD, Johnson MP, Kent JW Jr, Curran JE, Moses EK, Blangero J, Barac A, Lee ET, Best LG, Fabsitz RR, Devereux RB, Okin PM, Bella JN, Broeckel U, Howard BV, MacCluer JW, Cole SA, Almasy L. Bivariate genetic association of KIAA1797 with heart rate in American Indians: the Strong Heart Family Study. Hum Mol Genet. 2010 Sep 15;19(18):3662-71. PMCID: PMC2928129
62. Volkmann BA, Zinkevich NS, Mustonen A, Schilter KF, Bosenko DV, Reis LM, Broeckel U, Link BA, Semina EV. Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. Invest Ophthalmol Vis Sci. 2011 Mar;52(3):1450-9. PMCID: PMC3101680
63. Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med. 2011 Mar;13(3):255-62.
64. Broeckel U, Stoll M, Hein L. The identification of phosducin as a novel candidate gene for hypertension and its role in sympathetic activation. Curr Opin Nephrol Hypertens. 2011 Mar;20(2):118-24.
65. Arnett DK, Meyers KJ, Devereux RB, Tiwari HK, Gu CC, Vaughan LK, Perry RT, Patki A, Claas SA, Sun YV, Broeckel U, Kardia SL. Genetic variation in NCAM1 contributes to left ventricular wall thickness in hypertensive families. Circ Res. 2011 Feb 04;108(3):279-83. PMCID: PMC3328104
66. Wineinger NE, Patki A, Meyers KJ, Broeckel U, Gu CC, Rao DC, Devereux RB, Arnett DK, Tiwari HK. Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study. BMC Med Genomics. 2011 Jan 11;4:4. PMCID: PMC3027088
67. Däbritz J, Friedrichs F, Weinhage T, Hampe J, Kucharzik T, Lügering A, Broeckel U, Schreiber S, Spieker T, Stoll M, Foell D. The functional -374T/A polymorphism of the receptor for advanced glycation end products may modulate Crohn's disease. Am J Physiol Gastrointest Liver Physiol. 2011 May;300(5):G823-32.
68. Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Hum Genet. 2011 Oct;130(4):495-504. PMCID: PMC3178759
69. Wineinger NE, Pajewski NM, Kennedy RE, Wojczynski MK, Vaughan LK, Hunt SC, Gu CC, Rao DC, Lorier R, Broeckel U, Arnett DK, Tiwari HK. Characterization of autosomal copy-number variation in African Americans: the HyperGEN Study. Eur J Hum Genet. 2011 Dec;19(12):1271-5. PMCID: PMC3230358
70. Simino J, Shi G, Arnett D, Broeckel U, Hunt SC, Rao DC. Variants on chromosome 6p22.3 associated with blood pressure in the HyperGEN study: follow-up of FBPP quantitative trait loci. Am J Hypertens. 2011 Nov;24(11):1227-33. PMCID: PMC3406604
71. Irvin MR, Wineinger NE, Rice TK, Pajewski NM, Kabagambe EK, Gu CC, Pankow J, North KE, Wilk JB, Freedman BI, Franceschini N, Broeckel U, Tiwari HK, Arnett DK. Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study. PLoS One. 2011;6(8):e24052. PMCID: PMC3162025
72. Sebro R, Levy H, Schneck K, Dimmock D, Raby BA, Cannon CL, Broeckel U, Risch NJ. Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency. Clin Genet. 2012 Dec;82(6):546-51. PMCID: PMC4279028
73. Maloney JP, Stearman RS, Bull TM, Calabrese DW, Tripp-Addison ML, Wick MJ, Broeckel U, Robbins IM, Wheeler LA, Cogan JD, Loyd JE. Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertension. Am J Physiol Lung Cell Mol Physiol. 2012 Mar 15;302(6):L541-54. PMCID: PMC3311532
74. Tomita-Mitchell A, Mahnke DK, Struble CA, Tuffnell ME, Stamm KD, Hidestrand M, Harris SE, Goetsch MA, Simpson PM, Bick DP, Broeckel U, Pelech AN, Tweddell JS, Mitchell ME. Human gene copy number spectra analysis in congenital heart malformations. Physiol Genomics. 2012 May 01;44(9):518-41. PMCID: PMC3426426
75. Kraja AT, Lawson HA, Arnett DK, Borecki IB, Broeckel U, de las Fuentes L, Hunt SC, Province MA, Cheverud J, Rao DC. Obesity-insulin targeted genes in the 3p26-25 region in human studies and LG/J and SM/J mice. Metabolism. 2012 Aug;61(8):1129-41. PMCID: PMC3586585
76. Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV. PITX2 and FOXC1 spectrum of mutations in ocular syndromes. Eur J Hum Genet. 2012 Dec;20(12):1224-33. PMCID: PMC3499749
77. Sung YJ, Gu CC, Tiwari HK, Arnett DK, Broeckel U, Rao DC. Genotype imputation for African Americans using data from HapMap phase II versus 1000 genomes projects. Genet Epidemiol. 2012 Jul;36(5):508-16. PMCID: PMC3703942
78. Zhi D, Irvin MR, Gu CC, Stoddard AJ, Lorier R, Matter A, Rao DC, Srinivasasainagendra V, Tiwari HK, Turner A, Broeckel U, Arnett DK. Whole-exome sequencing and an iPSC-derived cardiomyocyte model provides a powerful platform for gene discovery in left ventricular hypertrophy. Front Genet. 2012;3:92. PMCID: PMC3361011
79. David SP, Hamidovic A, Chen GK, Bergen AW, Wessel J, Kasberger JL, Brown WM, Petruzella S, Thacker EL, Kim Y, Nalls MA, Tranah GJ, Sung YJ, Ambrosone CB, Arnett D, Bandera EV, Becker DM, Becker L, Berndt SI, Bernstein L, Blot WJ, Broeckel U, Buxbaum SG, Caporaso N, Casey G, Chanock SJ, Deming SL, Diver WR, Eaton CB, Evans DS, Evans MK, Fornage M, Franceschini N, Harris TB, Henderson BE, Hernandez DG, Hitsman B, Hu JJ, Hunt SC, Ingles SA, John EM, Kittles R, Kolb S, Kolonel LN, Le Marchand L, Liu Y, Lohman KK, McKnight B, Millikan RC, Murphy A, Neslund-Dudas C, Nyante S, Press M, Psaty BM, Rao DC, Redline S, Rodriguez-Gil JL, Rybicki BA, Signorello LB, Singleton AB, Smoller J, Snively B, Spring B, Stanford JL, Strom SS, Swan GE, Taylor KD, Thun MJ, Wilson AF, Witte JS, Yamamura Y, Yanek LR, Yu K, Zheng W, Ziegler RG, Zonderman AB, Jorgenson E, Haiman CA, Furberg H. Genome-wide meta-analyses of smoking behaviors in African Americans. Transl Psychiatry. 2012 May 22;2(5):e119. PMCID: PMC3365260
80. Zhao W, Wineinger NE, Tiwari HK, Mosley TH, Broeckel U, Arnett DK, Kardia SL, Kabagambe EK, Sun YV. Copy number variations associated with obesity-related traits in African Americans: a joint analysis between GENOA and HyperGEN. Obesity (Silver Spring). 2012 Dec;20(12):2431-7. PMCID: PMC3484176
81. Fernandez CA, Smith C, Yang W, Lorier R, Crews KR, Kornegay N, Hicks JK, Stewart CF, Kawedia JD, Ramsey LB, Liu C, Evans WE, Relling MV, Broeckel U. Concordance of DMET plus genotyping results with those of orthogonal genotyping methods. Clin Pharmacol Ther. 2012 Sep;92(3):360-5. PMCID: PMC3516299
82. Hicks JK, Crews KR, Hoffman JM, Kornegay NM, Wilkinson MR, Lorier R, Stoddard A, Yang W, Smith C, Fernandez CA, Cross SJ, Haidar C, Baker DK, Howard SC, Evans WE, Broeckel U, Relling MV. A clinician-driven automated system for integration of pharmacogenetic interpretations into an electronic medical record. Clin Pharmacol Ther. 2012 Nov;92(5):563-6. PMCID: PMC3589522
83. Mangino M, Hwang SJ, Spector TD, Hunt SC, Kimura M, Fitzpatrick AL, Christiansen L, Petersen I, Elbers CC, Harris T, Chen W, Srinivasan SR, Kark JD, Benetos A, El Shamieh S, Visvikis-Siest S, Christensen K, Berenson GS, Valdes AM, Viñuela A, Garcia M, Arnett DK, Broeckel U, Province MA, Pankow JS, Kammerer C, Liu Y, Nalls M, Tishkoff S, Thomas F, Ziv E, Psaty BM, Bis JC, Rotter JI, Taylor KD, Smith E, Schork NJ, Levy D, Aviv A. Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. Hum Mol Genet. 2012 Dec 15;21(24):5385-94. PMCID: PMC3510758
84. Siegel DH, Shieh JTC, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF, Hayflick SJ, Krol AL, Kwok PY, Lorier R, Matter A, McWeeney S, Metry D, Mitchell S, Pope E, Santoro JL, Stevenson DA, Bayrak-Toydemir P, Wilmot B, Worthey EA, Frieden IJ, Drolet BA, Broeckel U. Copy number variation analysis in 98 individuals with PHACE syndrome. J Invest Dermatol. 2013 Mar;133(3):677-684. PMCID: PMC3971866
85. Broeckel U, Maresso K. Genetics, genomics and the power of stem cells to identify novel treatment options in complex diseases. Per Med. 2012 Nov;9(8):821-828.
86. Schmitt EG, Haribhai D, Williams JB, Aggarwal P, Jia S, Charbonnier LM, Yan K, Lorier R, Turner A, Ziegelbauer J, Georgiev P, Simpson P, Salzman NH, Hessner MJ, Broeckel U, Chatila TA, Williams CB. IL-10 produced by induced regulatory T cells (iTregs) controls colitis and pathogenic ex-iTregs during immunotherapy. J Immunol. 2012 Dec 15;189(12):5638-48. PMCID: PMC3537488
87. Zhang Y, Kent JW Jr, Olivier M, Ali O, Broeckel U, Abdou RM, Dyer TD, Comuzzie A, Curran JE, Carless MA, Rainwater DL, Göring HH, Blangero J, Kissebah AH. QTL-based association analyses reveal novel genes influencing pleiotropy of metabolic syndrome (MetS). Obesity (Silver Spring). 2013 Oct;21(10):2099-111. PMCID: PMC3769476
88. Monda KL, Chen GK, Taylor KC, Palmer C, Edwards TL, Lange LA, Ng MC, Adeyemo AA, Allison MA, Bielak LF, Chen G, Graff M, Irvin MR, Rhie SK, Li G, Liu Y, Liu Y, Lu Y, Nalls MA, Sun YV, Wojczynski MK, Yanek LR, Aldrich MC, Ademola A, Amos CI, Bandera EV, Bock CH, Britton A, Broeckel U, Cai Q, Caporaso NE, Carlson CS, Carpten J, Casey G, Chen WM, Chen F, Chen YD, Chiang CW, Coetzee GA, Demerath E, Deming-Halverson SL, Driver RW, Dubbert P, Feitosa MF, Feng Y, Freedman BI, Gillanders EM, Gottesman O, Guo X, Haritunians T, Harris T, Harris CC, Hennis AJ, Hernandez DG, McNeill LH, Howard TD, Howard BV, Howard VJ, Johnson KC, Kang SJ, Keating BJ, Kolb S, Kuller LH, Kutlar A, Langefeld CD, Lettre G, Lohman K, Lotay V, Lyon H, Manson JE, Maixner W, Meng YA, Monroe KR, Morhason-Bello I, Murphy AB, Mychaleckyj JC, Nadukuru R, Nathanson KL, Nayak U, N'diaye A, Nemesure B, Wu SY, Leske MC, Neslund-Dudas C, Neuhouser M, Nyante S, Ochs-Balcom H, Ogunniyi A, Ogundiran TO, Ojengbede O, Olopade OI, Palmer JR, Ruiz-Narvaez EA, Palmer ND, Press MF, Rampersaud E, Rasmussen-Torvik LJ, Rodriguez-Gil JL, Salako B, Schadt EE, Schwartz AG, Shriner DA, Siscovick D, Smith SB, Wassertheil-Smoller S, Speliotes EK, Spitz MR, Sucheston L, Taylor H, Tayo BO, Tucker MA, Van Den Berg DJ, Edwards DR, Wang Z, Wiencke JK, Winkler TW, Witte JS, Wrensch M, Wu X, Yang JJ, Levin AM, Young TR, Zakai NA, Cushman M, Zanetti KA, Zhao JH, Zhao W, Zheng Y, Zhou J, Ziegler RG, Zmuda JM, Fernandes JK, Gilkeson GS, Kamen DL, Hunt KJ, Spruill IJ, Ambrosone CB, Ambs S, Arnett DK, Atwood L, Becker DM, Berndt SI, Bernstein L, Blot WJ, Borecki IB, Bottinger EP, Bowden DW, Burke G, Chanock SJ, Cooper RS, Ding J, Duggan D, Evans MK, Fox C, Garvey WT, Bradfield JP, Hakonarson H, Grant SF, Hsing A, Chu L, Hu JJ, Huo D, Ingles SA, John EM, Jordan JM, Kabagambe EK, Kardia SL, Kittles RA, Goodman PJ, Klein EA, Kolonel LN, Le Marchand L, Liu S, McKnight B, Millikan RC, Mosley TH, Padhukasahasram B, Williams LK, Patel SR, Peters U, Pettaway CA, Peyser PA, Psaty BM, Redline S, Rotimi CN, Rybicki BA, Sale MM, Schreiner PJ, Signorello LB, Singleton AB, Stanford JL, Strom SS, Thun MJ, Vitolins M, Zheng W, Moore JH, Williams SM, Ketkar S, Zhu X, Zonderman AB, NABEC Consortium, UKBEC Consortium, BioBank Japan Project, AGEN Consortium, Kooperberg C, Papanicolaou GJ, Henderson BE, Reiner AP, Hirschhorn JN, Loos RJ, North KE, Haiman CA. A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nat Genet. 2013 Jun;45(6):690-6. PMCID: PMC3694490
89. Shuldiner AR, Relling MV, Peterson JF, Hicks JK, Freimuth RR, Sadee W, Pereira NL, Roden DM, Johnson JA, Klein TE, Pharmacogenomics Research Network Translational Pharmacogenetics Program Group, Shuldiner AR, Vesely M, Robinson SW, Ambulos N Jr, Stass SA, Kelemen MD, Brown LA, Pollin TI, Beitelshees AL, Zhao RY, Pakyz RE, Palmer K, Alestock T, O'Neill C, Maloney K, Branham A, Sewell D, Relling MV, Crews K, Hoffman J, Cross S, Haidar C, Baker D, Hicks JK, Bell G, Greeson F, Gaur A, Reiss U, Huettel A, Cheng C, Gajjar A, Pappo A, Howard S, Hudson M, Pui CH, Jeha S, Evans WE, Broeckel U, Altman RB, Gong L, Whirl-Carrillo M, Klein TE, Sadee W, Manickam K, Sweet KM, Embi PJ, Roden D, Peterson J, Denny J, Schildcrout J, Bowton E, Pulley J, Beller M, Mitchell J, Danciu I, Price L, Pereira NL, Weinshilboum R, Wang L, Johnson JA, Nelson D, Clare-Salzler M, Elsey A, Burkley B, Langaee T, Liu F, Nessl D, Dong HJ, Lesko L, Freimuth RR, Chute CG. The Pharmacogenomics Research Network Translational Pharmacogenetics Program: overcoming challenges of real-world implementation. Clin Pharmacol Ther. 2013 Aug;94(2):207-10. PMCID: PMC3720847
90. Zhang Y, Kent JW Jr, Olivier M, Ali O, Cerjak D, Broeckel U, Abdou RM, Dyer TD, Comuzzie A, Curran JE, Carless MA, Rainwater DL, Göring HH, Blangero J, Kissebah AH. A comprehensive analysis of adiponectin QTLs using SNP association, SNP cis-effects on peripheral blood gene expression and gene expression correlation identified novel metabolic syndrome (MetS) genes with potential role in carcinogenesis and systemic inflammation. BMC Med Genomics. 2013 Apr 29;6:14. PMCID: PMC3643849
91. Giampietro PF, Raggio CL, Blank RD, McCarty C, Broeckel U, Pickart MA. Clinical, genetic and environmental factors associated with congenital vertebral malformations. Mol Syndromol. 2013 Feb;4(1-2):94-105. PMCID: PMC3638777
92. Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV. Whole-genome copy number variation analysis in anophthalmia and microphthalmia. Clin Genet. 2013 Nov;84(5):473-81. PMCID: PMC3985344
93. Lazar J, O'Meara CC, Sarkis AB, Prisco SZ, Xu H, Fox CS, Chen MH, Broeckel U, Arnett DK, Moreno C, Provoost AP, Jacob HJ. SORCS1 contributes to the development of renal disease in rats and humans. Physiol Genomics. 2013 Aug 15;45(16):720-8. PMCID: PMC3742914
94. Liu CT, Monda KL, Taylor KC, Lange L, Demerath EW, Palmas W, Wojczynski MK, Ellis JC, Vitolins MZ, Liu S, Papanicolaou GJ, Irvin MR, Xue L, Griffin PJ, Nalls MA, Adeyemo A, Liu J, Li G, Ruiz-Narvaez EA, Chen WM, Chen F, Henderson BE, Millikan RC, Ambrosone CB, Strom SS, Guo X, Andrews JS, Sun YV, Mosley TH, Yanek LR, Shriner D, Haritunians T, Rotter JI, Speliotes EK, Smith M, Rosenberg L, Mychaleckyj J, Nayak U, Spruill I, Garvey WT, Pettaway C, Nyante S, Bandera EV, Britton AF, Zonderman AB, Rasmussen-Torvik LJ, Chen YD, Ding J, Lohman K, Kritchevsky SB, Zhao W, Peyser PA, Kardia SL, Kabagambe E, Broeckel U, Chen G, Zhou J, Wassertheil-Smoller S, Neuhouser ML, Rampersaud E, Psaty B, Kooperberg C, Manson JE, Kuller LH, Ochs-Balcom HM, Johnson KC, Sucheston L, Ordovas JM, Palmer JR, Haiman CA, McKnight B, Howard BV, Becker DM, Bielak LF, Liu Y, Allison MA, Grant SF, Burke GL, Patel SR, Schreiner PJ, Borecki IB, Evans MK, Taylor H, Sale MM, Howard V, Carlson CS, Rotimi CN, Cushman M, Harris TB, Reiner AP, Cupples LA, North KE, Fox CS. Genome-wide association of body fat distribution in African ancestry populations suggests new loci. PLoS Genet. 2013;9(8):e1003681. PMCID: PMC3744443
95. Franceschini N, Fox E, Zhang Z, Edwards TL, Nalls MA, Sung YJ, Tayo BO, Sun YV, Gottesman O, Adeyemo A, Johnson AD, Young JH, Rice K, Duan Q, Chen F, Li Y, Tang H, Fornage M, Keene KL, Andrews JS, Smith JA, Faul JD, Guangfa Z, Guo W, Liu Y, Murray SS, Musani SK, Srinivasan S, Velez Edwards DR, Wang H, Becker LC, Bovet P, Bochud M, Broeckel U, Burnier M, Carty C, Chasman DI, Ehret G, Chen WM, Chen G, Chen W, Ding J, Dreisbach AW, Evans MK, Guo X, Garcia ME, Jensen R, Keller MF, Lettre G, Lotay V, Martin LW, Moore JH, Morrison AC, Mosley TH, Ogunniyi A, Palmas W, Papanicolaou G, Penman A, Polak JF, Ridker PM, Salako B, Singleton AB, Shriner D, Taylor KD, Vasan R, Wiggins K, Williams SM, Yanek LR, Zhao W, Zonderman AB, Becker DM, Berenson G, Boerwinkle E, Bottinger E, Cushman M, Eaton C, Nyberg F, Heiss G, Hirschhron JN, Howard VJ, Karczewsk KJ, Lanktree MB, Liu K, Liu Y, Loos R, Margolis K, Snyder M, Asian Genetic Epidemiology Network Consortium, Psaty BM, Schork NJ, Weir DR, Rotimi CN, Sale MM, Harris T, Kardia SL, Hunt SC, Arnett D, Redline S, Cooper RS, Risch NJ, Rao DC, Rotter JI, Chakravarti A, Reiner AP, Levy D, Keating BJ, Zhu X. Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. Am J Hum Genet. 2013 Sep 05;93(3):545-54. PMCID: PMC3769920
96. Bell GC, Crews KR, Wilkinson MR, Haidar CE, Hicks JK, Baker DK, Kornegay NM, Yang W, Cross SJ, Howard SC, Freimuth RR, Evans WE, Broeckel U, Relling MV, Hoffman JM. Development and use of active clinical decision support for preemptive pharmacogenomics. J Am Med Inform Assoc. 2014 Feb;21(e1):e93-9. PMCID: PMC3957400
97. Hoffman JM, Haidar CE, Wilkinson MR, Crews KR, Baker DK, Kornegay NM, Yang W, Pui CH, Reiss UM, Gaur AH, Howard SC, Evans WE, Broeckel U, Relling MV. PG4KDS: a model for the clinical implementation of pre-emptive pharmacogenetics. Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):45-55. PMCID: PMC4056586
98. Miller AW, McCarty CA, Broeckel U, Hytopoulos V, Cross DS. Development of reusable logic for determination of statin exposure-time from electronic health records. J Biomed Inform. 2014 Jun;49:206-12. PMCID: PMC4327888
99. Hicks JK, Crews KR, Flynn P, Haidar CE, Daniels CC, Yang W, Panetta JC, Pei D, Scott JR, Molinelli AR, Broeckel U, Bhojwani D, Evans WE, Relling MV. Voriconazole plasma concentrations in immunocompromised pediatric patients vary by CYP2C19 diplotypes. Pharmacogenomics. 2014 Jun;15(8):1065-78. PMCID: PMC4155516
100. Thompson P, Wheeler HE, Delaney SM, Lorier R, Broeckel U, Devidas M, Reaman GH, Scorsone K, Sung L, Dolan ME, Berg SL. Pharmacokinetics and pharmacogenomics of daunorubicin in children: a report from the Children's Oncology Group. Cancer Chemother Pharmacol. 2014 Oct;74(4):831-8. PMCID: PMC4282931
101. Aggarwal P, Turner A, Matter A, Kattman SJ, Stoddard A, Lorier R, Swanson BJ, Arnett DK, Broeckel U. RNA expression profiling of human iPSC-derived cardiomyocytes in a cardiac hypertrophy model. PLoS One. 2014;9(9):e108051. PMCID: PMC4177883
102. Dunnenberger HM, Crews KR, Hoffman JM, Caudle KE, Broeckel U, Howard SC, Hunkler RJ, Klein TE, Evans WE, Relling MV. Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers. Annu Rev Pharmacol Toxicol. 2015;55:89-106. PMCID: PMC4607278
103. Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U. Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. Am J Med Genet A. 2015 Jan;167A(1):95-102.
104. Tran NT, Aslibekyan S, Tiwari HK, Zhi D, Sung YJ, Hunt SC, Rao DC, Broeckel U, Judd SE, Muntner P, Kent ST, Arnett DK, Irvin MR. PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies. Front Genet. 2015;6:136. PMCID: PMC4389541
105. Joshi PK, Esko T, Mattsson H, Eklund N, Gandin I, Nutile T, Jackson AU, Schurmann C, Smith AV, Zhang W, Okada Y, Stančáková A, Faul JD, Zhao W, Bartz TM, Concas MP, Franceschini N, Enroth S, Vitart V, Trompet S, Guo X, Chasman DI, O'Connel JR, Corre T, Nongmaithem SS, Chen Y, Mangino M, Ruggiero D, Traglia M, Farmaki AE, Kacprowski T, Bjonnes A, van der Spek A, Wu Y, Giri AK, Yanek LR, Wang L, Hofer E, Rietveld CA, McLeod O, Cornelis MC, Pattaro C, Verweij N, Baumbach C, Abdellaoui A, Warren HR, Vuckovic D, Mei H, Bouchard C, Perry JRB, Cappellani S, Mirza SS, Benton MC, Broeckel U, Medland SE, Lind PA, Malerba G, Drong A, Yengo L, Bielak LF, Zhi D, van der Most PJ, Shriner D, Mägi R, Hemani G, Karaderi T, Wang Z, Liu T, Demuth I, Zhao JH, Meng W, Lataniotis L, van der Laan SW, Bradfield JP, Wood AR, Bonnefond A, Ahluwalia TS, Hall LM, Salvi E, Yazar S, Carstensen L, de Haan HG, Abney M, Afzal U, Allison MA, Amin N, Asselbergs FW, Bakker SJL, Barr RG, Baumeister SE, Benjamin DJ, Bergmann S, Boerwinkle E, Bottinger EP, Campbell A, Chakravarti A, Chan Y, Chanock SJ, Chen C, Chen YI, Collins FS, Connell J, Correa A, Cupples LA, Smith GD, Davies G, Dörr M, Ehret G, Ellis SB, Feenstra B, Feitosa MF, Ford I, Fox CS, Frayling TM, Friedrich N, Geller F, Scotland G, Gillham-Nasenya I, Gottesman O, Graff M, Grodstein F, Gu C, Haley C, Hammond CJ, Harris SE, Harris TB, Hastie ND, Heard-Costa NL, Heikkilä K, Hocking LJ, Homuth G, Hottenga JJ, Huang J, Huffman JE, Hysi PG, Ikram MA, Ingelsson E, Joensuu A, Johansson Å, Jousilahti P, Jukema JW, Kähönen M, Kamatani Y, Kanoni S, Kerr SM, Khan NM, Koellinger P, Koistinen HA, Kooner MK, Kubo M, Kuusisto J, Lahti J, Launer LJ, Lea RA, Lehne B, Lehtimäki T, Liewald DCM, Lind L, Loh M, Lokki ML, London SJ, Loomis SJ, Loukola A, Lu Y, Lumley T, Lundqvist A, Männistö S, Marques-Vidal P, Masciullo C, Matchan A, Mathias RA, Matsuda K, Meigs JB, Meisinger C, Meitinger T, Menni C, Mentch FD, Mihailov E, Milani L, Montasser ME, Montgomery GW, Morrison A, Myers RH, Nadukuru R, Navarro P, Nelis M, Nieminen MS, Nolte IM, O'Connor GT, Ogunniyi A, Padmanabhan S, Palmas WR, Pankow JS, Patarcic I, Pavani F, Peyser PA, Pietilainen K, Poulter N, Prokopenko I, Ralhan S, Redmond P, Rich SS, Rissanen H, Robino A, Rose LM, Rose R, Sala C, Salako B, Salomaa V, Sarin AP, Saxena R, Schmidt H, Scott LJ, Scott WR, Sennblad B, Seshadri S, Sever P, Shrestha S, Smith BH, Smith JA, Soranzo N, Sotoodehnia N, Southam L, Stanton AV, Stathopoulou MG, Strauch K, Strawbridge RJ, Suderman MJ, Tandon N, Tang ST, Taylor KD, Tayo BO, Töglhofer AM, Tomaszewski M, Tšernikova N, Tuomilehto J, Uitterlinden AG, Vaidya D, van Hylckama Vlieg A, van Setten J, Vasankari T, Vedantam S, Vlachopoulou E, Vozzi D, Vuoksimaa E, Waldenberger M, Ware EB, Wentworth-Shields W, Whitfield JB, Wild S, Willemsen G, Yajnik CS, Yao J, Zaza G, Zhu X, Project TBJ, Salem RM, Melbye M, Bisgaard H, Samani NJ, Cusi D, Mackey DA, Cooper RS, Froguel P, P. Directional dominance on stature and cognition in diverse human populations. Nature. 2015 Jul 23;523(7561):459-462. PMCID: PMC4516141
106. Turner AJ, Aggarwal P, Miller HE, Waukau J, Routes JM, Broeckel U, Robinson RT. The introduction of RNA-DNA differences underlies interindividual variation in the human IL12RB1 mRNA repertoire. Proc Natl Acad Sci U S A. 2015 Dec 15;112(50):15414-9. PMCID: PMC4687591
107. Pratt VM, Everts RE, Aggarwal P, Beyer BN, Broeckel U, Epstein-Baak R, Hujsak P, Kornreich R, Liao J, Lorier R, Scott SA, Smith CH, Toji LH, Turner A, Kalman LV. Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project. J Mol Diagn. 2016 Jan;18(1):109-23. PMCID: PMC4695224
108. Li W, Turner A, Aggarwal P, Matter A, Storvick E, Arnett DK, Broeckel U. Comprehensive evaluation of AmpliSeq transcriptome, a novel targeted whole transcriptome RNA sequencing methodology for global gene expression analysis. BMC Genomics. 2015 Dec 16;16:1069. PMCID: PMC4681149
109. Kullo IJ, Jouni H, Austin EE, Brown SA, Kruisselbrink TM, Isseh IN, Haddad RA, Marroush TS, Shameer K, Olson JE, Broeckel U, Green RC, Schaid DJ, Montori VM, Bailey KR. Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk Estimates: Effect on Low-Density Lipoprotein Cholesterol Levels (the MI-GENES Clinical Trial). Circulation. 2016 Mar 22;133(12):1181-8. PMCID: PMC4803581
110. Yang W, Wu G, Broeckel U, Smith CA, Turner V, Haidar CE, Wang S, Carter R, Karol SE, Neale G, Crews KR, Yang JJ, Mullighan CG, Downing JR, Evans WE, Relling MV. Comparison of genome sequencing and clinical genotyping for pharmacogenes. Clin Pharmacol Ther. 2016 Oct;100(4):380-8. PMCID: PMC5684873
111. Gammal RS, Crews KR, Haidar CE, Hoffman JM, Baker DK, Barker PJ, Estepp JH, Pei D, Broeckel U, Wang W, Weiss MJ, Relling MV, Hankins J. Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease. Pediatrics. 2016 Jul;138(1). PMCID: PMC4925073
112. Peterson JF, Bick DP, Geddes GC, McCarrier J, Grignon JW Jr, Chirempes B, Broeckel U, Abidi F, Rogers RC, Boccuto L, DuPont B, vanTuinen P. Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome. Am J Med Genet A. 2016 Dec;170(12):3348-3351.
113. Broeckel U. What Can hiPSC-Cardiomyocytes Teach Us about Modeling Complex Human Disease Phenotypes? Cell Stem Cell. 2016 Sep 01;19(3):282-4.
114. Wang H, Choi Y, Tayo B, Wang X, Morris N, Zhang X, Broeckel U, Hanis C, Kardia S, Redline S, Cooper RS, Tang H, Zhu X. Genome-wide survey in African Americans demonstrates potential epistasis of fitness in the human genome. Genet Epidemiol. 2017 Feb;41(2):122-135. PMCID: PMC5226866
115. Pasternak AL, Crews KR, Caudle KE, Smith C, Pei D, Cheng C, Broeckel U, Gaur AH, Hankins J, Relling MV, Haidar CE. The impact of the UGT1A1*60 allele on bilirubin serum concentrations. Pharmacogenomics. 2017 Jan;18(1):5-16.
116. Do AN, Zhao W, Srinivasasainagendra V, Aslibekyan S, Tiwari HK, Limdi N, Shah SJ, Zhi D, Broeckel U, Gu CC, Rao DC, Schwander K, Smith JA, Kardia SLR, Arnett DK, Irvin MR. Whole exome analyses to examine the impact of rare variants on left ventricular traits in African American participants from the HyperGEN and GENOA studies. J Hypertens Manag. 2017;3(1). PMCID: PMC5831560
117. Maloney JP, Branchford BR, Brodsky GL, Cosmic MS, Calabrese DW, Aquilante CL, Maloney KW, Gonzalez JR, Zhang W, Moreau KL, Wiggins KL, Smith NL, Broeckel U, Di Paola J. The <i>ENTPD1</i> promoter polymorphism -860 A &gt; G (rs3814159) is associated with increased gene transcription, protein expression, CD39/NTPDase1 enzymatic activity, and thromboembolism risk. FASEB J. 2017 Jul;31(7):2771-2784. PMCID: PMC6137499
118. Wild PS, Felix JF, Schillert A, Teumer A, Chen MH, Leening MJG, Völker U, Großmann V, Brody JA, Irvin MR, Shah SJ, Pramana S, Lieb W, Schmidt R, Stanton AV, Malzahn D, Smith AV, Sundström J, Minelli C, Ruggiero D, Lyytikäinen LP, Tiller D, Smith JG, Monnereau C, Di Tullio MR, Musani SK, Morrison AC, Pers TH, Morley M, Kleber ME, Aragam J, Benjamin EJ, Bis JC, Bisping E, Broeckel U, Cheng S, Deckers JW, Del Greco M F, Edelmann F, Fornage M, Franke L, Friedrich N, Harris TB, Hofer E, Hofman A, Huang J, Hughes AD, Kähönen M, Investigators K, Kruppa J, Lackner KJ, Lannfelt L, Laskowski R, Launer LJ, Leosdottir M, Lin H, Lindgren CM, Loley C, MacRae CA, Mascalzoni D, Mayet J, Medenwald D, Morris AP, Müller C, Müller-Nurasyid M, Nappo S, Nilsson PM, Nuding S, Nutile T, Peters A, Pfeufer A, Pietzner D, Pramstaller PP, Raitakari OT, Rice KM, Rivadeneira F, Rotter JI, Ruohonen ST, Sacco RL, Samdarshi TE, Schmidt H, Sharp ASP, Shields DC, Sorice R, Sotoodehnia N, Stricker BH, Surendran P, Thom S, Töglhofer AM, Uitterlinden AG, Wachter R, Völzke H, Ziegler A, Münzel T, März W, Cappola TP, Hirschhorn JN, Mitchell GF, Smith NL, Fox ER, Dueker ND, Jaddoe VWV, Melander O, Russ M, Lehtimäki T, Ciullo M, Hicks AA, Lind L, Gudnason V, Pieske B, Barron AJ, Zweiker R, Schunkert H, Ingelsson E, Liu K, Arnett DK, Psaty BM, Blankenberg S, Larson MG, Felix SB, Franco OH, Zeller T, Vasan RS, Dörr M. Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. J Clin Invest. 2017 May 01;127(5):1798-1812. PMCID: PMC5409098
119. Xu M, Bhatt DK, Yeung CK, Claw KG, Chaudhry AS, Gaedigk A, Pearce RE, Broeckel U, Gaedigk R, Nickerson DA, Schuetz E, Rettie AE, Leeder JS, Thummel KE, Prasad B. Genetic and Nongenetic Factors Associated with Protein Abundance of Flavin-Containing Monooxygenase 3 in Human Liver. J Pharmacol Exp Ther. 2017 Nov;363(2):265-274. PMCID: PMC5697103
120. Yu M, Chen Y, Zeng H, Zheng Y, Fu G, Zhu W, Broeckel U, Aggarwal P, Turner A, Neale G, Guy C, Zhu N, Chi H, Wen R, Wang D. PLCγ-dependent mTOR signalling controls IL-7-mediated early B cell development. Nat Commun. 2017 Nov 13;8(1):1457. PMCID: PMC5684131
121. Sung YJ, Winkler TW, de Las Fuentes L, Bentley AR, Brown MR, Kraja AT, Schwander K, Ntalla I, Guo X, Franceschini N, Lu Y, Cheng CY, Sim X, Vojinovic D, Marten J, Musani SK, Li C, Feitosa MF, Kilpeläinen TO, Richard MA, Noordam R, Aslibekyan S, Aschard H, Bartz TM, Dorajoo R, Liu Y, Manning AK, Rankinen T, Smith AV, Tajuddin SM, Tayo BO, Warren HR, Zhao W, Zhou Y, Matoba N, Sofer T, Alver M, Amini M, Boissel M, Chai JF, Chen X, Divers J, Gandin I, Gao C, Giulianini F, Goel A, Harris SE, Hartwig FP, Horimoto ARVR, Hsu FC, Jackson AU, Kähönen M, Kasturiratne A, Kühnel B, Leander K, Lee WJ, Lin KH, 'an Luan J, McKenzie CA, Meian H, Nelson CP, Rauramaa R, Schupf N, Scott RA, Sheu WHH, Stančáková A, Takeuchi F, van der Most PJ, Varga TV, Wang H, Wang Y, Ware EB, Weiss S, Wen W, Yanek LR, Zhang W, Zhao JH, Afaq S, Alfred T, Amin N, Arking D, Aung T, Barr RG, Bielak LF, Boerwinkle E, Bottinger EP, Braund PS, Brody JA, Broeckel U, Cabrera CP, Cade B, Caizheng Y, Campbell A, Canouil M, Chakravarti A, CHARGE Neurology Working Group, Chauhan G, Christensen K, Cocca M, COGENT-Kidney Consortium, Collins FS, Connell JM, de Mutsert R, de Silva HJ, Debette S, Dörr M, Duan Q, Eaton CB, Ehret G, Evangelou E, Faul JD, Fisher VA, Forouhi NG, Franco OH, Friedlander Y, Gao H, GIANT Consortium, Gigante B, Graff M, Gu CC, Gu D, Gupta P, Hagenaars SP, Harris TB, He J, Heikkinen S, Heng CK, Hirata M, Hofman A, Howard BV, Hunt S, Irvin MR, Jia Y, Joehanes R, Justice AE, Katsuya T, Kaufman J, Kerrison ND, Khor CC, Koh WP, Koistinen HA, Komulainen P, Kooperberg C, Krieger JE, Kubo M, Kuusisto J, Langefeld CD, Langenberg C, Launer LJ, Lehne B, Lewis CE, Li Y, Lifelines Cohort Study, Lim SH, Lin S, Liu CT, Liu J, Liu J, Liu K, Liu Y, Loh M, Lohman KK, Long J, Louie T, Mägi R, Mahajan A, Meitinger T, Metspalu A, Milani L, Momozawa Y, Morris AP, Mosley TH Jr, Munson P, Murray AD, Nalls MA, Nasri U, Norris JM, North K, Ogunniyi A, Padmanabhan S, Palmas WR, Palmer ND, Pankow JS, Pedersen NL, Peters A, Peyser PA, Polasek O, Raitakari OT, Renström F, Rice TK, Ridker PM, Robino A, Robinson JG, Rose LM, Rudan I, Sabanayagam C, Salako BL, Sandow K, Schmidt CO, Schreiner PJ, Scott WR, Seshadri S, Sever P, Sitlani CM, Smith JA, Snieder H, Starr JM, Strauch K, Tang H, Taylor KD, Teo YY, Tham YC, Uitterlinden AG, Waldenberger M, Wang L, Wang YX, Wei WB, Williams C, Wilson G, Wojczynski MK, Yao J, Yuan JM, Zonderman AB, Becker DM, Boehnke M, Bowden DW, Chambers JC, Chen YI, de Faire U, Deary IJ, Esko T, Farrall M, Forrester T, Franks PW, Freedman BI, Froguel P, Gasparini P, Gieger C, Horta BL, Hung YJ, Jonas JB, Kato N, Kooner JS, Laakso M, Lehtimäki T, Liang KW, Magnusson PKE, Newman AB, Oldehinkel AJ, Pereira AC, Redline S, Rettig R, Samani NJ, Scott J, Shu XO, van der Harst P, Wagenknecht LE, Wareham NJ, Watkins H, Weir DR, Wickremasinghe AR, Wu T, Zheng W, Kamatani Y, Laurie CC, Bouchard C, Cooper RS, Evans MK, Gudnason V, Kardia SLR, Kritchevsky SB, Levy . A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. Am J Hum Genet. 2018 Mar 01;102(3):375-400. PMCID: PMC5985266
122. Reeme AE, Claeys TA, Aggarwal P, Turner AJ, Routes JM, Broeckel U, Robinson RT. Human IL12RB1 expression is allele-biased and produces a novel IL12 response regulator. Genes Immun. 2019 Mar;20(3):181-197. PMCID: PMC6165718
123. Bhatt DK, Basit A, Zhang H, Gaedigk A, Lee SB, Claw KG, Mehrotra A, Chaudhry AS, Pearce RE, Gaedigk R, Broeckel U, Thornton TA, Nickerson DA, Schuetz EG, Amory JK, Leeder JS, Prasad B. Hepatic Abundance and Activity of Androgen- and Drug-Metabolizing Enzyme UGT2B17 Are Associated with Genotype, Age, and Sex. Drug Metab Dispos. 2018 Jun;46(6):888-896. PMCID: PMC5938891
124. Bhatt DK, Mehrotra A, Gaedigk A, Chapa R, Basit A, Zhang H, Choudhari P, Boberg M, Pearce RE, Gaedigk R, Broeckel U, Leeder JS, Prasad B. Age- and Genotype-Dependent Variability in the Protein Abundance and Activity of Six Major Uridine Diphosphate-Glucuronosyltransferases in Human Liver. Clin Pharmacol Ther. 2019 Jan;105(1):131-141. PMCID: PMC6222000
125. Feitosa MF, Kraja AT, Chasman DI, Sung YJ, Winkler TW, Ntalla I, Guo X, Franceschini N, Cheng CY, Sim X, Vojinovic D, Marten J, Musani SK, Li C, Bentley AR, Brown MR, Schwander K, Richard MA, Noordam R, Aschard H, Bartz TM, Bielak LF, Dorajoo R, Fisher V, Hartwig FP, Horimoto ARVR, Lohman KK, Manning AK, Rankinen T, Smith AV, Tajuddin SM, Wojczynski MK, Alver M, Boissel M, Cai Q, Campbell A, Chai JF, Chen X, Divers J, Gao C, Goel A, Hagemeijer Y, Harris SE, He M, Hsu FC, Jackson AU, Kähönen M, Kasturiratne A, Komulainen P, Kühnel B, Laguzzi F, Luan J, Matoba N, Nolte IM, Padmanabhan S, Riaz M, Rueedi R, Robino A, Said MA, Scott RA, Sofer T, Stančáková A, Takeuchi F, Tayo BO, van der Most PJ, Varga TV, Vitart V, Wang Y, Ware EB, Warren HR, Weiss S, Wen W, Yanek LR, Zhang W, Zhao JH, Afaq S, Amin N, Amini M, Arking DE, Aung T, Boerwinkle E, Borecki I, Broeckel U, Brown M, Brumat M, Burke GL, Canouil M, Chakravarti A, Charumathi S, Ida Chen YD, Connell JM, Correa A, de Las Fuentes L, de Mutsert R, de Silva HJ, Deng X, Ding J, Duan Q, Eaton CB, Ehret G, Eppinga RN, Evangelou E, Faul JD, Felix SB, Forouhi NG, Forrester T, Franco OH, Friedlander Y, Gandin I, Gao H, Ghanbari M, Gigante B, Gu CC, Gu D, Hagenaars SP, Hallmans G, Harris TB, He J, Heikkinen S, Heng CK, Hirata M, Howard BV, Ikram MA, InterAct Consortium, John U, Katsuya T, Khor CC, Kilpeläinen TO, Koh WP, Krieger JE, Kritchevsky SB, Kubo M, Kuusisto J, Lakka TA, Langefeld CD, Langenberg C, Launer LJ, Lehne B, Lewis CE, Li Y, Lin S, Liu J, Liu J, Loh M, Louie T, Mägi R, McKenzie CA, Meitinger T, Metspalu A, Milaneschi Y, Milani L, Mohlke KL, Momozawa Y, Nalls MA, Nelson CP, Sotoodehnia N, Norris JM, O'Connell JR, Palmer ND, Perls T, Pedersen NL, Peters A, Peyser PA, Poulter N, Raffel LJ, Raitakari OT, Roll K, Rose LM, Rosendaal FR, Rotter JI, Schmidt CO, Schreiner PJ, Schupf N, Scott WR, Sever PS, Shi Y, Sidney S, Sims M, Sitlani CM, Smith JA, Snieder H, Starr JM, Strauch K, Stringham HM, Tan NYQ, Tang H, Taylor KD, Teo YY, Tham YC, Turner ST, Uitterlinden AG, Vollenweider P, Waldenberger M, Wang L, Wang YX, Wei WB, Williams C, Yao J, Yu C, Yuan JM, Zhao W, Zonderman AB, Becker DM, Boehnke M, Bowden DW, Chambers JC, Deary IJ, Esko T, Farrall M, Franks PW, Freedman BI, Froguel P, Gasparini P, Gieger C, Jonas JB, Kamatani Y, Kato N, Kooner JS, Kutalik Z, Laakso M, Laurie CC, Leander K, Lehtimäki T, Study LC, Magnusson PKE, Oldehinkel AJ, Penninx BWJH, Polasek O, Porteous DJ, Rauramaa R, Samani NJ, Scott J, Shu XO, van der Harst P, Wagenknecht LE, Wareham NJ, Watkins H, Weir DR, Wickremasinghe AR, Wu T, Zheng W, Bouchard C, Christensen K, Evans MK, Gudnason V, Horta BL, Kardia SLR, Liu Y, Pereira AC, Psaty BM, Ridker PM, van Dam RM, Gauderman WJ, Zhu X, Mook-Kanamori DO, Fornage M, Rotimi CN, Cupples LA, Kelly TN, Fox ER, Hayward C, van Duijn CM, Tai ES, Wong TY, Kooperberg C, Palmas W, Rice K, Morrison AC, Elliott P, Caulfield MJ, Munroe PB, Rao DC, Province MA, Lev. Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. PLoS One. 2018;13(6):e0198166. PMCID: PMC6005576
126. Khan SS, Kim KA, Peng J, Aguilar FG, Selvaraj S, Martinez EE, Baldridge AS, Sha J, Irvin MR, Broeckel U, Arnett DK, Rasmussen-Torvik LJ, Shah SJ. Clinical correlates and heritability of cardiac mechanics: The HyperGEN study. Int J Cardiol. 2019 Jan 01;274:208-213. PMCID: PMC6242726
127. Robinson KM, Yang W, Haidar CE, Hankins JS, Jay DW, Kornegay N, Rubnitz JE, Broeckel U, Cheng C, Pui CH, Jeha S, Relling MV. Concordance between glucose-6-phosphate dehydrogenase (G6PD) genotype and phenotype and rasburicase use in patients with hematologic malignancies. Pharmacogenomics J. 2019 Jun;19(3):305-314. PMCID: PMC6414283
128. Kraja AT, Liu C, Fetterman JL, Graff M, Have CT, Gu C, Yanek LR, Feitosa MF, Arking DE, Chasman DI, Young K, Ligthart S, Hill WD, Weiss S, Luan J, Giulianini F, Li-Gao R, Hartwig FP, Lin SJ, Wang L, Richardson TG, Yao J, Fernandez EP, Ghanbari M, Wojczynski MK, Lee WJ, Argos M, Armasu SM, Barve RA, Ryan KA, An P, Baranski TJ, Bielinski SJ, Bowden DW, Broeckel U, Christensen K, Chu AY, Corley J, Cox SR, Uitterlinden AG, Rivadeneira F, Cropp CD, Daw EW, van Heemst D, de Las Fuentes L, Gao H, Tzoulaki I, Ahluwalia TS, de Mutsert R, Emery LS, Erzurumluoglu AM, Perry JA, Fu M, Forouhi NG, Gu Z, Hai Y, Harris SE, Hemani G, Hunt SC, Irvin MR, Jonsson AE, Justice AE, Kerrison ND, Larson NB, Lin KH, Love-Gregory LD, Mathias RA, Lee JH, Nauck M, Noordam R, Ong KK, Pankow J, Patki A, Pattie A, Petersmann A, Qi Q, Ribel-Madsen R, Rohde R, Sandow K, Schnurr TM, Sofer T, Starr JM, Taylor AM, Teumer A, Timpson NJ, de Haan HG, Wang Y, Weeke PE, Williams C, Wu H, Yang W, Zeng D, Witte DR, Weir BS, Wareham NJ, Vestergaard H, Turner ST, Torp-Pedersen C, Stergiakouli E, Sheu WH, Rosendaal FR, Ikram MA, Franco OH, Ridker PM, Perls TT, Pedersen O, Nohr EA, Newman AB, Linneberg A, Langenberg C, Kilpeläinen TO, Kardia SLR, Jørgensen ME, Jørgensen T, Sørensen TIA, Homuth G, Hansen T, Goodarzi MO, Deary IJ, Christensen C, Chen YI, Chakravarti A, Brandslund I, Bonnelykke K, Taylor KD, Wilson JG, Rodriguez S, Davies G, Horta BL, Thyagarajan B, Rao DC, Grarup N, Davila-Roman VG, Hudson G, Guo X, Arnett DK, Hayward C, Vaidya D, Mook-Kanamori DO, Tiwari HK, Levy D, Loos RJF, Dehghan A, Elliott P, Malik AN, Scott RA, Becker DM, de Andrade M, Province MA, Meigs JB, Rotter JI, North KE. Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits. Am J Hum Genet. 2019 Jan 03;104(1):112-138. PMCID: PMC6323610
129. Turner A, Aggarwal P, Matter A, Olson B, Gu CC, Hunt SC, Lewis CE, Arnett DK, Lorier R, Broeckel U. Donor-specific phenotypic variation in hiPSC cardiomyocyte-derived exosomes impacts endothelial cell function. Am J Physiol Heart Circ Physiol. 2021 Mar 01;320(3):H954-H968. PMCID: PMC8294700
130. Bick AG, Weinstock JS, Nandakumar SK, Fulco CP, Bao EL, Zekavat SM, Szeto MD, Liao X, Leventhal MJ, Nasser J, Chang K, Laurie C, Burugula BB, Gibson CJ, Lin AE, Taub MA, Aguet F, Ardlie K, Mitchell BD, Barnes KC, Moscati A, Fornage M, Redline S, Psaty BM, Silverman EK, Weiss ST, Palmer ND, Vasan RS, Burchard EG, Kardia SLR, He J, Kaplan RC, Smith NL, Arnett DK, Schwartz DA, Correa A, de Andrade M, Guo X, Konkle BA, Custer B, Peralta JM, Gui H, Meyers DA, McGarvey ST, Chen IY, Shoemaker MB, Peyser PA, Broome JG, Gogarten SM, Wang FF, Wong Q, Montasser ME, Daya M, Kenny EE, North KE, Launer LJ, Cade BE, Bis JC, Cho MH, Lasky-Su J, Bowden DW, Cupples LA, Mak ACY, Becker LC, Smith JA, Kelly TN, Aslibekyan S, Heckbert SR, Tiwari HK, Yang IV, Heit JA, Lubitz SA, Johnsen JM, Curran JE, Wenzel SE, Weeks DE, Rao DC, Darbar D, Moon JY, Tracy RP, Buth EJ, Rafaels N, Loos RJF, Durda P, Liu Y, Hou L, Lee J, Kachroo P, Freedman BI, Levy D, Bielak LF, Hixson JE, Floyd JS, Whitsel EA, Ellinor PT, Irvin MR, Fingerlin TE, Raffield LM, Armasu SM, Wheeler MM, Sabino EC, Blangero J, Williams LK, Levy BD, Sheu WH, Roden DM, Boerwinkle E, Manson JE, Mathias RA, Desai P, Taylor KD, Johnson AD, NHLBI Trans-Omics for Precision Medicine Consortium, Auer PL, Kooperberg C, Laurie CC, Blackwell TW, Smith AV, Zhao H, Lange E, Lange L, Rich SS, Rotter JI, Wilson JG, Scheet P, Kitzman JO, Lander ES, Engreitz JM, Ebert BL, Reiner AP, Jaiswal S, Abecasis G, Sankaran VG, Kathiresan S, Natarajan P. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 Oct;586(7831):763-768. PMCID: PMC7944936
131. Keramati AR, Chen MH, Rodriguez BAT, Yanek LR, Bhan A, Gaynor BJ, Ryan K, Brody JA, Zhong X, Wei Q, Abe N, Abecasis G, Aguet F, Albert C, Almasy L, Alonso A, Ament S, Anderson P, Anugu P, Applebaum-Bowden D, Ardlie K, Arking D, Arnett DK, Ashley-Koch A, Aslibekyan S, Assimes T, Auer P, Avramopoulos D, Ayas N, Balasubramanian A, Barnard J, Barnes K, Barr RG, Barron-Casella E, Barwick L, Beaty T, Beck G, Becker D, Becker L, Beer R, Beitelshees A, Benjamin E, Benos T, Bezerra M, Bielak L, Bis J, Blackwell T, Blangero J, Boerwinkle E, Bowden DW, Bowler R, Brody J, Broeckel U, Broome J, Brown D, Bunting K, Burchard E, Bustamante C, Buth E, Cade B, Cardwell J, Carey V, Carrier J, Carty C, Casaburi R, Romero JPC, Casella J, Castaldi P, Chaffin M, Chang C, Chang YC, Chasman D, Chavan S, Chen BJ, Chen WM, Chen YDI, Cho M, Choi SH, Chuang LM, Chung M, Chung RH, Clish C, Comhair S, Conomos M, Cornell E, Correa A, Crandall C, Crapo J, Cupples LA, Curran J, Curtis J, Custer B, Damcott C, Darbar D, David S, Davis C, Daya M, de Andrade M, Fuentes Ldl, de Vries P. Genome sequencing unveils a regulatory landscape of platelet reactivity Nature Communications. December 2021;12(1).
132. Sofer T, Zheng X, Laurie CA, Gogarten SM, Brody JA, Conomos MP, Bis JC, Thornton TA, Szpiro A, O'Connell JR, Lange EM, Gao Y, Cupples LA, Psaty BM, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Rice KM. Variant-specific inflation factors for assessing population stratification at the phenotypic variance level. Nat Commun. 2021 Jun 09;12(1):3506. PMCID: PMC8190158
133. Pratt VM, Turner A, Broeckel U, Dawson DB, Gaedigk A, Lynnes TC, Medeiros EB, Moyer AM, Requesens D, Vetrini F, Kalman LV. Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative Project. J Mol Diagn. 2021 Aug;23(8):952-958. PMCID: PMC8491090
134. Assem M, Broeckel U, Mackinnon GE. Personal DNA testing increases pharmacy students’ confidence and competence in pharmacogenomics American Journal of Pharmaceutical Education. 2021;85(4):281-287.
135. Turner AJ, Aggarwal P, Boone EC, Haidar CE, Relling MV, Derezinski AD, Broeckel U, Gaedigk A. Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization. J Mol Diagn. 2021 May;23(5):577-588. PMCID: PMC8176139
136. Irvin MR, Aggarwal P, Claas SA, de Las Fuentes L, Do AN, Gu CC, Matter A, Olson BS, Patki A, Schwander K, Smith JD, Srinivasasainagendra V, Tiwari HK, Turner AJ, Nickerson DA, Rao DC, Broeckel U, Arnett DK. Whole-Exome Sequencing and hiPSC Cardiomyocyte Models Identify <i>MYRIP</i>, <i>TRAPPC11</i>, and <i>SLC27A6</i> of Potential Importance to Left Ventricular Hypertrophy in an African Ancestry Population. Front Genet. 2021;12:588452. PMCID: PMC7933688
137. Natarajan P, Pampana A, Graham SE, Ruotsalainen SE, Perry JA, de Vries PS, Broome JG, Pirruccello JP, Honigberg MC, Aragam K, Wolford B, Brody JA, Antonacci-Fulton L, Arden M, Aslibekyan S, Assimes TL, Ballantyne CM, Bielak LF, Bis JC, Cade BE, Do R, Doddapaneni H, Emery LS, Hung YJ, Irvin MR, Khan AT, Lange L, Lee J, Lemaitre RN, Martin LW, Metcalf G, Montasser ME, Moon JY, Muzny D, O'Connell JR, Palmer ND, Peralta JM, Peyser PA, Stilp AM, Tsai M, Wang FF, Weeks DE, Yanek LR, Wilson JG, Abecasis G, Arnett DK, Becker LC, Blangero J, Boerwinkle E, Bowden DW, Chang YC, Chen YI, Choi WJ, Correa A, Curran JE, Daly MJ, Dutcher SK, Ellinor PT, Fornage M, Freedman BI, Gabriel S, Germer S, Gibbs RA, He J, Hveem K, Jarvik GP, Kaplan RC, Kardia SLR, Kenny E, Kim RW, Kooperberg C, Laurie CC, Lee S, Lloyd-Jones DM, Loos RJF, Lubitz SA, Mathias RA, Martinez KAV, McGarvey ST, Mitchell BD, Nickerson DA, North KE, Palotie A, Park CJ, Psaty BM, Rao DC, Redline S, Reiner AP, Seo D, Seo JS, Smith AV, Tracy RP, Vasan RS, Kathiresan S, Cupples LA, Rotter JI, Morrison AC, Rich SS, Ripatti S, Willer C, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, FinnGen, Peloso GM. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 Apr 12;12(1):2182. PMCID: PMC8042019
138. 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, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, 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 Feb;590(7845):290-299. PMCID: PMC7875770
139. Graff M, Justice AE, Young KL, Marouli E, Zhang X, Fine RS, Lim E, Buchanan V, Rand K, Feitosa MF, Wojczynski MK, Yanek LR, Shao Y, Rohde R, Adeyemo AA, Aldrich MC, Allison MA, Ambrosone CB, Ambs S, Amos C, Arnett DK, Atwood L, Bandera EV, Bartz T, Becker DM, Berndt SI, Bernstein L, Bielak LF, Blot WJ, Bottinger EP, Bowden DW, Bradfield JP, Brody JA, Broeckel U, Burke G, Cade BE, Cai Q, Caporaso N, Carlson C, Carpten J, Casey G, Chanock SJ, Chen G, Chen M, Chen YI, Chen WM, Chesi A, Chiang CWK, Chu L, Coetzee GA, Conti DV, Cooper RS, Cushman M, Demerath E, Deming SL, Dimitrov L, Ding J, Diver WR, Duan Q, Evans MK, Falusi AG, Faul JD, Fornage M, Fox C, Freedman BI, Garcia M, Gillanders EM, Goodman P, Gottesman O, Grant SFA, Guo X, Hakonarson H, Haritunians T, Harris TB, Harris CC, Henderson BE, Hennis A, Hernandez DG, Hirschhorn JN, McNeill LH, Howard TD, Howard B, Hsing AW, Hsu YH, Hu JJ, Huff CD, Huo D, Ingles SA, Irvin MR, John EM, Johnson KC, Jordan JM, Kabagambe EK, Kang SJ, Kardia SL, Keating BJ, Kittles RA, Klein EA, Kolb S, Kolonel LN, Kooperberg C, Kuller L, Kutlar A, Lange L, Langefeld CD, Le Marchand L, Leonard H, Lettre G, Levin AM, Li Y, Li J, Liu Y, Liu Y, Liu S, Lohman K, Lotay V, Lu Y, Maixner W, Manson JE, McKnight B, Meng Y, Monda KL, Monroe K, Moore JH, Mosley TH, Mudgal P, Murphy AB, Nadukuru R, Nalls MA, Nathanson KL, Nayak U, N'Diaye A, Nemesure B, Neslund-Dudas C, Neuhouser ML, Nyante S, Ochs-Balcom H, Ogundiran TO, Ogunniyi A, Ojengbede O, Okut H, Olopade OI, Olshan A, Padhukasahasram B, Palmer J, Palmer CD, Palmer ND, Papanicolaou G, Patel SR, Pettaway CA, Peyser PA, Press MF, Rao DC, Rasmussen-Torvik LJ, Redline S, Reiner AP, Rhie SK, Rodriguez-Gil JL, Rotimi CN, Rotter JI, Ruiz-Narvaez EA, Rybicki BA, Salako B, Sale MM, Sanderson M, Schadt E, Schreiner PJ, Schurmann C, Schwartz AG, Shriner DA, Signorello LB, Singleton AB, Siscovick DS, Smith JA, Smith S, Speliotes E, Spitz M, Stanford JL, Stevens VL, Stram A, Strom SS, Sucheston L, Sun YV, Tajuddin SM, Taylor H, Taylor K, Tayo BO, Thun MJ, Tucker MA, Vaidya D, Van Den Berg DJ, Vedantam S, Vitolins M, Wang Z, Ware EB, Wassertheil-Smoller S, Weir DR, Wiencke JK, Williams SM, Williams LK, Wilson JG, Witte JS, Wrensch M, Wu X, Yao J, Zakai N, Zanetti K, Zemel BS, Zhao W, Zhao JH, Zheng W, Zhi D, Zhou J, Zhu X, Ziegler RG, Zmuda J, Zonderman AB, Psaty BM, Borecki IB, Cupples LA, Liu CT, Haiman CA, Loos R, Ng MCY, North KE. Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. Am J Hum Genet. 2021 Apr 01;108(4):564-582. PMCID: PMC8059339
140. Li X, Quick C, Zhou H, Gaynor SM, Liu Y, Chen H, Selvaraj MS, Sun R, Dey R, Arnett DK, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Correa A, Cupples LA, Curran JE, de Vries PS, Duggirala R, Freedman BI, Göring HHH, Guo X, Haessler J, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Manichaikul A, Martin LW, McGarvey ST, Mitchell BD, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Reupena MS, Rice KM, Rich SS, Sitlani CM, Smith JA, Taylor KD, Vasan RS, Willer CJ, Wilson JG, Yanek LR, Zhao W, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Lipids Working Group, Rotter JI, Natarajan P, Peloso GM, Li Z, Lin X. Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies. Nat Genet. 2023 Jan;55(1):154-164.
141. Pratt VM, Wang WY, Boone EC, Broeckel U, Cody N, Edelmann L, Gaedigk A, Lynnes TC, Medeiros EB, Moyer AM, Mitchell MW, Scott SA, Starostik P, Turner A, Kalman LV. Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project. J Mol Diagn. 2022 Oct;24(10):1079-1088. PMCID: PMC9554816
142. Nayor M, Shen L, Hunninghake GM, Kochunov P, Barr RG, Bluemke DA, Broeckel U, Caravan P, Cheng S, De Vries PS, Hoffmann U, Kolossváry M, Li H, Luo J, McNally EM, Thanassoulis G, Arnett DK, Vasan RS. Progress and Research Priorities in Imaging Genomics for Heart and Lung Disease: Summary of an NHLBI Workshop Circulation: Cardiovascular Imaging. 2021.
143. Kasela S, Ortega VE, Martorella M, Garudadri S, Nguyen J, Ampleford E, Pasanen A, Nerella S, Buschur KL, Barjaktarevic IZ, Barr RG, Bleecker ER, Bowler RP, Comellas AP, Cooper CB, Couper DJ, Criner GJ, Curtis JL, Han MK, Hansel NN, Hoffman EA, Kaner RJ, Krishnan JA, Martinez FJ, McDonald MN, Meyers DA, Paine R 3rd, Peters SP, Castro M, Denlinger LC, Erzurum SC, Fahy JV, Israel E, Jarjour NN, Levy BD, Li X, Moore WC, Wenzel SE, Zein J, NHLBI SubPopulations and InteRmediate Outcome Measures In COPD Study (SPIROMICS), NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Langelier C, Woodruff PG, Lappalainen T, Christenson SA. Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med. 2021 Apr 21;13(1):66. PMCID: PMC8059115
144. Assem M, Broeckel U, MacKinnon GE. Personal DNA Testing Increases Pharmacy Students' Confidence and Competence in Pharmacogenomics. Am J Pharm Educ. 2021 Apr;85(4):8249. PMCID: PMC8086609
145. Cade BE, Lee J, Sofer T, Wang H, Zhang M, Chen H, Gharib SA, Gottlieb DJ, Guo X, Lane JM, Liang J, Lin X, Mei H, Patel SR, Purcell SM, Saxena R, Shah NA, Evans DS, Hanis CL, Hillman DR, Mukherjee S, Palmer LJ, Stone KL, Tranah GJ, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Abecasis GR, Boerwinkle EA, Correa A, Cupples LA, Kaplan RC, Nickerson DA, North KE, Psaty BM, Rotter JI, Rich SS, Tracy RP, Vasan RS, Wilson JG, Zhu X, Redline S, TOPMed Sleep Working Group. Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program. Genome Med. 2021 Aug 26;13(1):136. PMCID: PMC8394596
146. Luo Y, Kanai M, Choi W, Li X, Sakaue S, Yamamoto K, Ogawa K, Gutierrez-Arcelus M, Gregersen PK, Stuart PE, Elder JT, Forer L, Schönherr S, Fuchsberger C, Smith AV, Fellay J, Carrington M, Haas DW, Guo X, Palmer ND, Chen YI, Rotter JI, Taylor KD, Rich SS, Correa A, Wilson JG, Kathiresan S, Cho MH, Metspalu A, Esko T, Okada Y, Han B, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, McLaren PJ, Raychaudhuri S. A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response. Nat Genet. 2021 Oct;53(10):1504-1516. PMCID: PMC8959399
147. Morris SA, Crews KR, Hayden RT, Takemoto CM, Yang W, Baker DK, Broeckel U, Relling MV, Haidar CE. Incorporating G6PD genotyping to identify patients with G6PD deficiency. Pharmacogenet Genomics. 2022 Apr 01;32(3):87-93. PMCID: PMC8976699
148. Sun D, Richard M, Musani SK, Sung YJ, Winkler TW, Schwander K, Chai JF, Guo X, Kilpeläinen TO, Vojinovic D, Aschard H, Bartz TM, Bielak LF, Brown MR, Chitrala K, Hartwig FP, Horimoto ARVR, Liu Y, Manning AK, Noordam R, Smith AV, Harris SE, Kühnel B, Lyytikäinen LP, Nolte IM, Rauramaa R, van der Most PJ, Wang R, Ware EB, Weiss S, Wen W, Yanek LR, Arking DE, Arnett DK, Barac A, Boerwinkle E, Broeckel U, Chakravarti A, Chen YI, Cupples LA, Davigulus ML, de Las Fuentes L, de Mutsert R, de Vries PS, Delaney JAC, Roux AVD, Dörr M, Faul JD, Fretts AM, Gallo LC, Grabe HJ, Gu CC, Harris TB, Hartman CCA, Heikkinen S, Ikram MA, Isasi C, Johnson WC, Jonas JB, Kaplan RC, Komulainen P, Krieger JE, Levy D, Lifelines Cohort Study, Liu J, Lohman K, Luik AI, Martin LW, Meitinger T, Milaneschi Y, O'Connell JR, Palmas WR, Peters A, Peyser PA, Pulkki-Råback L, Raffel LJ, Reiner AP, Rice K, Robinson JG, Rosendaal FR, Schmidt CO, Schreiner PJ, Schwettmann L, Shikany JM, Shu XO, Sidney S, Sims M, Smith JA, Sotoodehnia N, Strauch K, Tai ES, Taylor K, Uitterlinden AG, van Duijn CM, Waldenberger M, Wee HL, Wei WB, Wilson G, Xuan D, Yao J, Zeng D, Zhao W, Zhu X, Zonderman AB, Becker DM, Deary IJ, Gieger C, Lakka TA, Lehtimäki T, North KE, Oldehinkel AJ, Penninx BWJH, Snieder H, Wang YX, Weir DR, Zheng W, Evans MK, Gauderman WJ, Gudnason V, Horta BL, Liu CT, Mook-Kanamori DO, Morrison AC, Pereira AC, Psaty BM, Amin N, Fox ER, Kooperberg C, Sim X, Bierut L, Rotter JI, Kardia SLR, Franceschini N, Rao DC, Fornage M. Multi-Ancestry Genome-wide Association Study Accounting for Gene-Psychosocial Factor Interactions Identifies Novel Loci for Blood Pressure Traits. HGG Adv. 2021 Jan 14;2(1). PMCID: PMC8562625
149. Wainschtein P, Jain D, Zheng Z, TOPMed Anthropometry Working Group, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Cupples LA, Shadyab AH, McKnight B, Shoemaker BM, Mitchell BD, Psaty BM, Kooperberg C, Liu CT, Albert CM, Roden D, Chasman DI, Darbar D, Lloyd-Jones DM, Arnett DK, Regan EA, Boerwinkle E, Rotter JI, O'Connell JR, Yanek LR, de Andrade M, Allison MA, McDonald MN, Chung MK, Fornage M, Chami N, Smith NL, Ellinor PT, Vasan RS, Mathias RA, Loos RJF, Rich SS, Lubitz SA, Heckbert SR, Redline S, Guo X, Chen Y-I, Laurie CA, Hernandez RD, McGarvey ST, Goddard ME, Laurie CC, North KE, Lange LA, Weir BS, Yengo L, Yang J, Visscher PM. Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data. Nat Genet. 2022 Mar;54(3):263-273. PMCID: PMC9119698
150. Selvaraj MS, Li X, Li Z, Pampana A, Zhang DY, Park J, Aslibekyan S, Bis JC, Brody JA, Cade BE, Chuang LM, Chung RH, Curran JE, de Las Fuentes L, de Vries PS, Duggirala R, Freedman BI, Graff M, Guo X, Heard-Costa N, Hidalgo B, Hwu CM, Irvin MR, Kelly TN, Kral BG, Lange L, Li X, Lisa M, Lubitz SA, Manichaikul AW, Michael P, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Reupena MS, Smith JA, Sun X, Taylor KD, Tracy RP, Tsai MY, Wang Z, Wang Y, Bao W, Wilkins JT, Yanek LR, Zhao W, Arnett DK, Blangero J, Boerwinkle E, Bowden DW, Chen YI, Correa A, Cupples LA, Dutcher SK, Ellinor PT, Fornage M, Gabriel S, Germer S, Gibbs R, He J, Kaplan RC, Kardia SLR, Kim R, Kooperberg C, Loos RJF, Viaud-Martinez KA, Mathias RA, McGarvey ST, Mitchell BD, Nickerson D, North KE, Psaty BM, Redline S, Reiner AP, Vasan RS, Rich SS, Willer C, Rotter JI, Rader DJ, Lin X, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Peloso GM, Natarajan P. Whole genome sequence analysis of blood lipid levels in &gt;66,000 individuals. Nat Commun. 2022 Oct 11;13(1):5995. PMCID: PMC9553944