Medical College of Wisconsin
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Ulrich Broeckel MD

Ulrich Broeckel MD

Chief, Center Associate Director, Professor

Institution: Medical College of Wisconsin
Department: Pediatrics
Division: Genomic Pediatrics
Program: Genomic Pediatrics

Member of the Cancer Center
Member of the Cardiovascular Center
Member of the Genomic Sciences and Precision Medicine Center (GSPMC)


Research Experience

  • Blood Pressure
  • Cardiovascular Diseases
  • Coronary Artery Disease
  • DNA Mutational Analysis
  • Gene Expression Profiling
  • Genetic Association Studies
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genetic Variation
  • Genome, Human
  • Genome-Wide Association Study
  • Genomics
  • Genotype
  • Genotyping Techniques
  • Hypertension
  • Hypertrophy, Left Ventricular
  • Induced Pluripotent Stem Cells
  • Myocardial Infarction
  • Oligonucleotide Array Sequence Analysis
  • Pharmacogenetics
  • Sequence Analysis, DNA
  • Ventricular Dysfunction, Left
  • Methodologies and Techniques

  • Case-Control Studies
  • DNA
  • DNA Copy Number Variations
  • Drug-Related Side Effects and Adverse Reactions
  • Exome
  • Gene Expression Profiling
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genetic Variation
  • Genetics, Population
  • Genome-Wide Association Study
  • Genotype
  • Genotyping Techniques
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Hypertension
  • Hypertrophy, Left Ventricular
  • Myocardial Infarction
  • Pharmacogenetics
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA
  • Transcriptome
  • Ventricular Dysfunction, Left
  • Leadership Positions

  • Research Unit Leader: Genetics and Genomics, Children's Research Institute
  • Associate Director for Pharmacogenomics, Genomic Sciences and Precision Medicine Ctr
  • Chief, Section Genomic Pediatrics
  • Publications

  • Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits. (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) Am J Hum Genet 2019 Jan 03;104(1):112-138 PMID: 30595373 PMCID: PMC6323610 01/01/2019    
  • Concordance between glucose-6-phosphate dehydrogenase (G6PD) genotype and phenotype and rasburicase use in patients with hematologic malignancies. (Robinson KM, Yang W, Haidar CE, Hankins JS, Jay DW, Kornegay N, Rubnitz JE, Broeckel U, Cheng C, Pui CH, Jeha S, Relling MV) Pharmacogenomics J 2018 Sep 12 PMID: 30206300 09/13/2018    
  • Clinical correlates and heritability of cardiac mechanics: The HyperGEN study. (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) Int J Cardiol 2019 Jan 01;274:208-213 PMID: 30045819 PMCID: PMC6242726 07/27/2018    
  • Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. (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, Levy D) PLoS One 2018;13(6):e0198166 PMID: 29912962 PMCID: PMC6005576 06/19/2018    
  • Age- and Genotype-Dependent Variability in the Protein Abundance and Activity of Six Major Uridine Diphosphate-Glucuronosyltransferases in Human Liver. (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) Clin Pharmacol Ther 2019 Jan;105(1):131-141 PMID: 29737521 PMCID: PMC6222000 05/09/2018       3 Citations
  • Hepatic Abundance and Activity of Androgen- and Drug-Metabolizing Enzyme UGT2B17 Are Associated with Genotype, Age, and Sex. (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) Drug Metab Dispos 2018 06;46(6):888-896 PMID: 29602798 PMCID: PMC5938891 04/01/2018       4 Citations
  • Human IL12RB1 expression is allele-biased and produces a novel IL12 response regulator. (Reeme AE, Claeys TA, Aggarwal P, Turner AJ, Routes JM, Broeckel U, Robinson RT) Genes Immun 2018 Mar 30 PMID: 29599514 PMCID: PMC6165718 03/31/2018    
  • A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. (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 D, O'Connell JR, Psaty BM, van Dam RM, Sims M, Arnett DK, Mook-Kanamori DO, Kelly TN, Fox ER, Hayward C, Fornage M, Rotimi CN, Province MA, van Duijn CM, Tai ES, Wong TY, Loos RJF, Reiner AP, Rotter JI, Zhu X, Bierut LJ, Gauderman WJ, Caulfield MJ, Elliott P, Rice K, Munroe PB, Morrison AC, Cupples LA, Rao DC, Chasman DI) Am J Hum Genet 2018 03 01;102(3):375-400 PMID: 29455858 PMCID: PMC5985266 02/20/2018       3 Citations
  • PLCγ-dependent mTOR signalling controls IL-7-mediated early B cell development. (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) Nat Commun 2017 11 13;8(1):1457 PMID: 29133930 PMCID: PMC5684131 11/15/2017       1 Citations
  • Genetic and Nongenetic Factors Associated with Protein Abundance of Flavin-Containing Monooxygenase 3 in Human Liver. (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) J Pharmacol Exp Ther 2017 Nov;363(2):265-274 PMID: 28819071 PMCID: PMC5697103 08/19/2017       4 Citations
  • Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. (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) J Clin Invest 2017 May 01;127(5):1798-1812 PMID: 28394258 PMCID: PMC5409098 04/11/2017       14 Citations
  • The promoter polymorphism -860 A > G (rs3814159) is associated with increased gene transcription, protein expression, CD39/NTPDase1 enzymatic activity, and thromboembolism risk. (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) FASEB J 2017 07;31(7):2771-2784 PMID: 28302652 PMCID: PMC6137499 03/18/2017       1 Citations
  • Whole exome analyses to examine the impact of rare variants on left ventricular traits in African American participants from the HyperGEN and GENOA studies. (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) J Hypertens Manag 2017;3(1) PMID: 29503979 PMCID: PMC5831560 01/01/2017    
  • The impact of the UGT1A1*60 allele on bilirubin serum concentrations. (Pasternak AL, Crews KR, Caudle KE, Smith C, Pei D, Cheng C, Broeckel U, Gaur AH, Hankins J, Relling MV, Haidar CE) Pharmacogenomics 2017 Jan;18(1):5-16 PMID: 27967321 12/15/2016       1 Citations
  • Genome-wide survey in African Americans demonstrates potential epistasis of fitness in the human genome. (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) Genet Epidemiol 2017 Feb;41(2):122-135 PMID: 27917522 PMCID: PMC5226866 12/06/2016       2 Citations
  • What Can hiPSC-Cardiomyocytes Teach Us about Modeling Complex Human Disease Phenotypes? (Broeckel U) Cell Stem Cell 2016 09 01;19(3):282-4 PMID: 27588742 09/03/2016       2 Citations
  • Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome. (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) Am J Med Genet A 2016 Dec;170(12):3348-3351 PMID: 27549580 08/24/2016       2 Citations
  • Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease. (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) Pediatrics 2016 07;138(1) PMID: 27335380 PMCID: PMC4925073 06/24/2016       24 Citations
  • Comparison of genome sequencing and clinical genotyping for pharmacogenes. (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) Clin Pharmacol Ther 2016 10;100(4):380-8 PMID: 27311679 PMCID: PMC5684873 06/18/2016       14 Citations
  • Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk Estimates: Effect on Low-Density Lipoprotein Cholesterol Levels (the MI-GENES Clinical Trial). (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) Circulation 2016 Mar 22;133(12):1181-8 PMID: 26915630 PMCID: PMC4803581 02/27/2016       55 Citations
  • Comprehensive evaluation of AmpliSeq transcriptome, a novel targeted whole transcriptome RNA sequencing methodology for global gene expression analysis. (Li W, Turner A, Aggarwal P, Matter A, Storvick E, Arnett DK, Broeckel U) BMC Genomics 2015 Dec 16;16:1069 PMID: 26673413 PMCID: PMC4681149 12/18/2015       16 Citations
  • The introduction of RNA-DNA differences underlies interindividual variation in the human IL12RB1 mRNA repertoire. (Turner AJ, Aggarwal P, Miller HE, Waukau J, Routes JM, Broeckel U, Robinson RT) Proc Natl Acad Sci U S A 2015 Dec 15;112(50):15414-9 PMID: 26621740 PMCID: PMC4687591 12/02/2015       2 Citations
  • Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project. (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) J Mol Diagn 2016 Jan;18(1):109-23 PMID: 26621101 PMCID: PMC4695224 12/02/2015       21 Citations
  • Directional dominance on stature and cognition in diverse human populations. (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, Pasterkamp G, Grant SFA, Hakonarson H, Ferrucci L, Scott RA, Morris AD, Palmer CNA, Dedoussis G, Deloukas P, Bertram L, Lindenberger U, Berndt SI, Lindgren CM, Timpson NJ, Tönjes A, Munroe PB, Sørensen TIA, Rotimi CN, Arnett DK, Oldehinkel AJ, Kardia SLR, Balkau B, Gambaro G, Morris AP, Eriksson JG, Wright MJ, Martin NG, Hunt SC, Starr JM, Deary IJ, Griffiths LR, Tiemeier H, Pirastu N, Kaprio J, Wareham NJ, Pérusse L, Wilson JG, Girotto G, Caulfield MJ, Raitakari O, Boomsma DI, Gieger C, van der Harst P, Hicks AA, Kraft P, Sinisalo J, Knekt P, Johannesson M, Magnusson PKE, Hamsten A, Schmidt R, Borecki IB, Vartiainen E, Becker DM, Bharadwaj D, Mohlke KL, Boehnke M, van Duijn CM, Sanghera DK, Teumer A, Zeggini E, Metspalu A, Gasparini P, Ulivi S, Ober C, Toniolo D, Rudan I, Porteous DJ, Ciullo M, Spector TD, Hayward C, Dupuis J, Loos RJF, Wright AF, Chandak GR, Vollenweider P, Shuldiner A, Ridker PM, Rotter JI, Sattar N, Gyllensten U, North KE, Pirastu M, Psaty BM, Weir DR, Laakso M, Gudnason V, Takahas) Nature 2015 Jul 23;523(7561):459-462 PMID: 26131930 PMCID: PMC4516141 07/02/2015       58 Citations
  • PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies. (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) Front Genet 2015;6:136 PMID: 25904937 PMCID: PMC4389541 04/24/2015    
  • Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. (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) Am J Med Genet A 2015 Jan;167A(1):95-102 PMID: 25348728 10/29/2014       5 Citations
  • Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers. (Dunnenberger HM, Crews KR, Hoffman JM, Caudle KE, Broeckel U, Howard SC, Hunkler RJ, Klein TE, Evans WE, Relling MV) Annu Rev Pharmacol Toxicol 2015;55:89-106 PMID: 25292429 PMCID: PMC4607278 10/09/2014       122 Citations
  • RNA expression profiling of human iPSC-derived cardiomyocytes in a cardiac hypertrophy model. (Aggarwal P, Turner A, Matter A, Kattman SJ, Stoddard A, Lorier R, Swanson BJ, Arnett DK, Broeckel U) PLoS One 2014;9(9):e108051 PMID: 25255322 PMCID: PMC4177883 09/26/2014       23 Citations
  • Pharmacokinetics and pharmacogenomics of daunorubicin in children: a report from the Children's Oncology Group. (Thompson P, Wheeler HE, Delaney SM, Lorier R, Broeckel U, Devidas M, Reaman GH, Scorsone K, Sung L, Dolan ME, Berg SL) Cancer Chemother Pharmacol 2014 Oct;74(4):831-8 PMID: 25119182 PMCID: PMC4282931 08/15/2014       12 Citations
  • Voriconazole plasma concentrations in immunocompromised pediatric patients vary by CYP2C19 diplotypes. (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) Pharmacogenomics 2014 Jun;15(8):1065-78 PMID: 25084200 PMCID: PMC4155516 08/02/2014       21 Citations
  • Development of reusable logic for determination of statin exposure-time from electronic health records. (Miller AW, McCarty CA, Broeckel U, Hytopoulos V, Cross DS) J Biomed Inform 2014 Jun;49:206-12 PMID: 24637142 PMCID: PMC4327888 03/19/2014       2 Citations
  • PG4KDS: a model for the clinical implementation of pre-emptive pharmacogenetics. (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) Am J Med Genet C Semin Med Genet 2014 Mar;166C(1):45-55 PMID: 24619595 PMCID: PMC4056586 03/13/2014       88 Citations
  • Development and use of active clinical decision support for preemptive pharmacogenomics. (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) J Am Med Inform Assoc 2014 Feb;21(e1):e93-9 PMID: 23978487 PMCID: PMC3957400 08/28/2013       93 Citations
  • Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. (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) Am J Hum Genet 2013 Sep 05;93(3):545-54 PMID: 23972371 PMCID: PMC3769920 08/27/2013       88 Citations
  • Genome-wide association of body fat distribution in African ancestry populations suggests new loci. (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) PLoS Genet 2013;9(8):e1003681 PMID: 23966867 PMCID: PMC3744443 08/24/2013       70 Citations
  • SORCS1 contributes to the development of renal disease in rats and humans. (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) Physiol Genomics 2013 Aug 15;45(16):720-8 PMID: 23780848 PMCID: PMC3742914 06/20/2013    
  • Whole-genome copy number variation analysis in anophthalmia and microphthalmia. (Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV) Clin Genet 2013 Nov;84(5):473-81 PMID: 23701296 PMCID: PMC3985344 05/25/2013       19 Citations
  • Clinical, genetic and environmental factors associated with congenital vertebral malformations. (Giampietro PF, Raggio CL, Blank RD, McCarty C, Broeckel U, Pickart MA) Mol Syndromol 2013 Feb;4(1-2):94-105 PMID: 23653580 PMCID: PMC3638777 05/09/2013    
  • 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. (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) BMC Med Genomics 2013 Apr 29;6:14 PMID: 23628382 PMCID: PMC3643849 05/01/2013       10 Citations
  • The Pharmacogenomics Research Network Translational Pharmacogenetics Program: overcoming challenges of real-world implementation. (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) Clin Pharmacol Ther 2013 Aug;94(2):207-10 PMID: 23588301 PMCID: PMC3720847 04/17/2013       89 Citations
  • A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. (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) Nat Genet 2013 Jun;45(6):690-6 PMID: 23583978 PMCID: PMC3694490 04/16/2013       128 Citations
  • QTL-based association analyses reveal novel genes influencing pleiotropy of metabolic syndrome (MetS). (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) Obesity (Silver Spring) 2013 Oct;21(10):2099-111 PMID: 23418049 PMCID: PMC3769476 02/19/2013       4 Citations
  • IL-10 produced by induced regulatory T cells (iTregs) controls colitis and pathogenic ex-iTregs during immunotherapy. (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) J Immunol 2012 Dec 15;189(12):5638-48 PMID: 23125413 PMCID: PMC3537488 11/06/2012       55 Citations
  • Genetics, genomics and the power of stem cells to identify novel treatment options in complex diseases. (Broeckel U, Maresso K) Per Med 2012 Nov;9(8):821-828 PMID: 29776230 11/01/2012    
  • Copy number variation analysis in 98 individuals with PHACE syndrome. (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) J Invest Dermatol 2013 Mar;133(3):677-684 PMID: 23096700 PMCID: PMC3971866 10/26/2012       15 Citations
  • Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. (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) Hum Mol Genet 2012 Dec 15;21(24):5385-94 PMID: 23001564 PMCID: PMC3510758 09/25/2012       95 Citations
  • A clinician-driven automated system for integration of pharmacogenetic interpretations into an electronic medical record. (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) Clin Pharmacol Ther 2012 Nov;92(5):563-6 PMID: 22990750 PMCID: PMC3589522 09/20/2012       67 Citations
  • Concordance of DMET plus genotyping results with those of orthogonal genotyping methods. (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) Clin Pharmacol Ther 2012 Sep;92(3):360-5 PMID: 22871999 PMCID: PMC3516299 08/09/2012       29 Citations
  • Copy number variations associated with obesity-related traits in African Americans: a joint analysis between GENOA and HyperGEN. (Zhao W, Wineinger NE, Tiwari HK, Mosley TH, Broeckel U, Arnett DK, Kardia SL, Kabagambe EK, Sun YV) Obesity (Silver Spring) 2012 Dec;20(12):2431-7 PMID: 22836685 PMCID: PMC3484176 07/28/2012       10 Citations
  • Genome-wide meta-analyses of smoking behaviors in African Americans. (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) Transl Psychiatry 2012 May 22;2:e119 PMID: 22832964 PMCID: PMC3365260 07/27/2012       65 Citations
  • Whole-exome sequencing and an iPSC-derived cardiomyocyte model provides a powerful platform for gene discovery in left ventricular hypertrophy. (Zhi D, Irvin MR, Gu CC, Stoddard AJ, Lorier R, Matter A, Rao DC, Srinivasasainagendra V, Tiwari HK, Turner A, Broeckel U, Arnett DK) Front Genet 2012;3:92 PMID: 22654895 PMCID: PMC3361011 06/02/2012    
  • Genotype imputation for African Americans using data from HapMap phase II versus 1000 genomes projects. (Sung YJ, Gu CC, Tiwari HK, Arnett DK, Broeckel U, Rao DC) Genet Epidemiol 2012 Jul;36(5):508-16 PMID: 22644746 PMCID: PMC3703942 05/31/2012       11 Citations
  • PITX2 and FOXC1 spectrum of mutations in ocular syndromes. (Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV) Eur J Hum Genet 2012 Dec;20(12):1224-33 PMID: 22569110 PMCID: PMC3499749 05/10/2012       50 Citations
  • Obesity-insulin targeted genes in the 3p26-25 region in human studies and LG/J and SM/J mice. (Kraja AT, Lawson HA, Arnett DK, Borecki IB, Broeckel U, de las Fuentes L, Hunt SC, Province MA, Cheverud J, Rao DC) Metabolism 2012 Aug;61(8):1129-41 PMID: 22386932 PMCID: PMC3586585 03/06/2012       8 Citations
  • Human gene copy number spectra analysis in congenital heart malformations. (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) Physiol Genomics 2012 May 01;44(9):518-41 PMID: 22318994 PMCID: PMC3426426 02/10/2012       54 Citations
  • Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertension. (Maloney JP, Stearman RS, Bull TM, Calabrese DW, Tripp-Addison ML, Wick MJ, Broeckel U, Robbins IM, Wheeler LA, Cogan JD, Loyd JE) Am J Physiol Lung Cell Mol Physiol 2012 Mar 15;302(6):L541-54 PMID: 22198906 PMCID: PMC3311532 12/27/2011       24 Citations
  • Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency. (Sebro R, Levy H, Schneck K, Dimmock D, Raby BA, Cannon CL, Broeckel U, Risch NJ) Clin Genet 2012 Dec;82(6):546-51 PMID: 22035343 PMCID: PMC4279028 11/01/2011       9 Citations
  • Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study. (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) PLoS One 2011;6(8):e24052 PMID: 21901158 PMCID: PMC3162025 09/09/2011       22 Citations
  • Variants on chromosome 6p22.3 associated with blood pressure in the HyperGEN study: follow-up of FBPP quantitative trait loci. (Simino J, Shi G, Arnett D, Broeckel U, Hunt SC, Rao DC) Am J Hypertens 2011 Nov;24(11):1227-33 PMID: 21850057 PMCID: PMC3406604 08/19/2011       8 Citations
  • Characterization of autosomal copy-number variation in African Americans: the HyperGEN Study. (Wineinger NE, Pajewski NM, Kennedy RE, Wojczynski MK, Vaughan LK, Hunt SC, Gu CC, Rao DC, Lorier R, Broeckel U, Arnett DK, Tiwari HK) Eur J Hum Genet 2011 Dec;19(12):1271-5 PMID: 21673747 PMCID: PMC3230358 06/16/2011       4 Citations
  • BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. (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) Hum Genet 2011 Oct;130(4):495-504 PMID: 21340693 PMCID: PMC3178759 02/23/2011       56 Citations
  • The functional -374T/A polymorphism of the receptor for advanced glycation end products may modulate Crohn's disease. (Däbritz J, Friedrichs F, Weinhage T, Hampe J, Kucharzik T, Lügering A, Broeckel U, Schreiber S, Spieker T, Stoll M, Foell D) Am J Physiol Gastrointest Liver Physiol 2011 May;300(5):G823-32 PMID: 21311028 02/12/2011       32 Citations
  • Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study. (Wineinger NE, Patki A, Meyers KJ, Broeckel U, Gu CC, Rao DC, Devereux RB, Arnett DK, Tiwari HK) BMC Med Genomics 2011 Jan 11;4:4 PMID: 21223598 PMCID: PMC3027088 01/13/2011       9 Citations
  • Genetic variation in NCAM1 contributes to left ventricular wall thickness in hypertensive families. (Arnett DK, Meyers KJ, Devereux RB, Tiwari HK, Gu CC, Vaughan LK, Perry RT, Patki A, Claas SA, Sun YV, Broeckel U, Kardia SL) Circ Res 2011 Feb 04;108(3):279-83 PMID: 21212386 PMCID: PMC3328104 01/08/2011       25 Citations
  • The identification of phosducin as a novel candidate gene for hypertension and its role in sympathetic activation. (Broeckel U, Stoll M, Hein L) Curr Opin Nephrol Hypertens 2011 Mar;20(2):118-24 PMID: 21191291 12/31/2010       3 Citations
  • Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. (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) Genet Med 2011 Mar;13(3):255-62 PMID: 21173700 12/22/2010       458 Citations
  • Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. (Volkmann BA, Zinkevich NS, Mustonen A, Schilter KF, Bosenko DV, Reis LM, Broeckel U, Link BA, Semina EV) Invest Ophthalmol Vis Sci 2011 Mar;52(3):1450-9 PMID: 20881290 PMCID: PMC3101680 10/01/2010       28 Citations
  • Bivariate genetic association of KIAA1797 with heart rate in American Indians: the Strong Heart Family Study. (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) Hum Mol Genet 2010 Sep 15;19(18):3662-71 PMID: 20601674 PMCID: PMC2928129 07/06/2010       17 Citations
  • Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease. (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) Physiol Genomics 2010 Sep;42A(1):52-60 PMID: 20551144 PMCID: PMC2957771 06/17/2010       27 Citations
  • Adducin 1 (alpha) Gly460Trp variant is associated with left ventricular geometry in Caucasians and African Americans: The HyperGEN Study. (Chauhan K, Devereux RB, Rao D, Broeckel U, Gu CC, Hopkins P, Arnett DK) Int J Mol Epidemiol Genet 2010 Feb 26;1(4):367-76 PMID: 21532846 PMCID: PMC3076776 01/01/2010    
  • Phosducin influences sympathetic activity and prevents stress-induced hypertension in humans and mice. (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) J Clin Invest 2009 Dec;119(12):3597-3612 PMID: 19959875 PMCID: PMC2786789 12/05/2009       33 Citations
  • Novel genetic variants contributing to left ventricular hypertrophy: the HyperGEN study. (Arnett DK, Devereux RB, Rao DC, Li N, Tang W, Kraemer R, Claas SA, Leon JM, Broeckel U) J Hypertens 2009 Aug;27(8):1585-93 PMID: 19593212 PMCID: PMC2868312 07/14/2009       26 Citations
  • An autoinflammatory disease due to homozygous deletion of the IL1RN locus. (Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U, Hessner MJ, Verbsky J) N Engl J Med 2009 Jun 04;360(23):2438-44 PMID: 19494219 PMCID: PMC2803085 06/06/2009       244 Citations
  • Genome-wide association study identifies single-nucleotide polymorphism in KCNB1 associated with left ventricular mass in humans: the HyperGEN Study. (Arnett DK, Li N, Tang W, Rao DC, Devereux RB, Claas SA, Kraemer R, Broeckel U) BMC Med Genet 2009 May 19;10:43 PMID: 19454037 PMCID: PMC2692849 05/21/2009       34 Citations
  • The role of genomics in the neonatal ICU. (Maresso K, Broeckel U) Clin Perinatol 2009 Mar;36(1):189-204 PMID: 19161875 01/24/2009       3 Citations
  • Genetic determinants of hypertension: an update. (Harrison M, Maresso K, Broeckel U) Curr Hypertens Rep 2008 Dec;10(6):488-95 PMID: 18959837 10/31/2008       26 Citations
  • Genotyping platforms for mass-throughput genotyping with SNPs, including human genome-wide scans. (Maresso K, Broeckel U) Adv Genet 2008;60:107-39 PMID: 18358318 03/25/2008       27 Citations
  • Pediatric onset Crohn's colitis is characterized by genotype-dependent age-related susceptibility. (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) Inflamm Bowel Dis 2007 Dec;13(12):1509-15 PMID: 17763471 09/01/2007       46 Citations
  • Signal transducer of inflammation gp130 modulates atherosclerosis in mice and man. (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) J Exp Med 2007 Aug 06;204(8):1935-44 PMID: 17664290 PMCID: PMC2118681 08/01/2007       39 Citations
  • Pediatric inflammatory bowel disease: clinical and molecular genetics. (Biank V, Broeckel U, Kugathasan S) Inflamm Bowel Dis 2007 Nov;13(11):1430-8 PMID: 17600381 06/30/2007       49 Citations
  • A locus on chromosome 10 influences C-reactive protein levels in two independent populations. (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) Hum Genet 2007 Aug;122(1):95-102 PMID: 17530289 05/29/2007       7 Citations
  • Lymphotoxin-alpha and galectin-2 SNPs are not associated with myocardial infarction in two different German populations. (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) J Mol Med (Berl) 2007 Sep;85(9):997-1004 PMID: 17497114 05/15/2007       20 Citations
  • DLG5 R30Q variant is a female-specific protective factor in pediatric onset Crohn's disease. (Biank V, Friedrichs F, Babusukumar U, Wang T, Stoll M, Broeckel U, Kugathasan S) Am J Gastroenterol 2007 Feb;102(2):391-8 PMID: 17156146 12/13/2006       31 Citations
  • Linkage analysis for complex diseases using variance component analysis: SOLAR. (Broeckel U, Maresso K, Martin LJ) Methods Mol Med 2006;128:91-100 PMID: 17071991 10/31/2006       2 Citations
  • Functional genomics and its implications for molecular medicine. (Broeckel U, Maresso K, Kugathasan S) Pediatr Clin North Am 2006 Oct;53(5):807-16, vii PMID: 17027611 10/10/2006       4 Citations
  • Contribution of OCTN variants within the IBD5 locus to pediatric onset Crohn's disease. (Babusukumar U, Wang T, McGuire E, Broeckel U, Kugathasan S) Am J Gastroenterol 2006 Jun;101(6):1354-61 PMID: 16771961 06/15/2006       42 Citations
  • Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men. (Friedrichs F, Brescianini S, Annese V, Latiano A, Berger K, Kugathasan S, Broeckel U, Nikolaus S, Daly MJ, Schreiber S, Rioux JD, Stoll M) Hum Genet 2006 Apr;119(3):305-11 PMID: 16446977 02/01/2006       54 Citations
  • Toward the etiologies of congenital heart diseases. (Pelech AN, Broeckel U) Clin Perinatol 2005 Dec;32(4):825-44, vii PMID: 16325664 12/06/2005       7 Citations
  • Epidemiology, risk factors, and genetics of high-altitude-related pulmonary disease. (Maloney JP, Broeckel U) Clin Chest Med 2005 Sep;26(3):395-404, v PMID: 16140134 09/06/2005       13 Citations
  • Comparative phenotypic and CARD15 mutational analysis among African American, Hispanic, and White children with Crohn's disease. (Kugathasan S, Loizides A, Babusukumar U, McGuire E, Wang T, Hooper P, Nebel J, Kofman G, Noel R, Broeckel U, Tolia V) Inflamm Bowel Dis 2005 Jul;11(7):631-8 PMID: 15973116 06/24/2005       64 Citations
  • Quantitative founder-effect analysis of French Canadian families identifies specific loci contributing to metabolic phenotypes of hypertension. (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) Am J Hum Genet 2005 May;76(5):815-32 PMID: 15800845 PMCID: PMC1199371 04/01/2005       62 Citations
  • Distinct heritable patterns of angiographic coronary artery disease in families with myocardial infarction. (Fischer M, Broeckel U, Holmer S, Baessler A, Hengstenberg C, Mayer B, Erdmann J, Klein G, Riegger G, Jacob HJ, Schunkert H) Circulation 2005 Feb 22;111(7):855-62 PMID: 15710764 02/16/2005       118 Citations
  • CARD15 gene mutations and risk for early surgery in pediatric-onset Crohn's disease. (Kugathasan S, Collins N, Maresso K, Hoffmann RG, Stephens M, Werlin SL, Rudolph C, Broeckel U) Clin Gastroenterol Hepatol 2004 Nov;2(11):1003-9 PMID: 15551253 11/20/2004       78 Citations
  • Genes for left ventricular hypertrophy. (Arnett DK, de las Fuentes L, Broeckel U) Curr Hypertens Rep 2004 Feb;6(1):36-41 PMID: 14972088 02/20/2004       34 Citations
  • Identifying genes and genetic variation underlying human diseases and complex phenotypes via recombination mapping. (Broeckel U, Schork NJ) J Physiol 2004 Jan 01;554(Pt 1):40-5 PMID: 14678489 PMCID: PMC1664744 12/18/2003       18 Citations
  • Prevalence of left ventricular diastolic dysfunction in the community. Results from a Doppler echocardiographic-based survey of a population sample. (Fischer M, Baessler A, Hense HW, Hengstenberg C, Muscholl M, Holmer S, Döring A, Broeckel U, Riegger G, Schunkert H) Eur Heart J 2003 Feb;24(4):320-8 PMID: 12581679 02/13/2003       266 Citations
  • Identification of hypertension-related QTLs in African American sib pairs. (Kotchen TA, Broeckel U, Grim CE, Hamet P, Jacob H, Kaldunski ML, Kotchen JM, Schork NJ, Tonellato PJ, Cowley AW Jr) Hypertension 2002 Nov;40(5):634-9 PMID: 12411455 11/02/2002       22 Citations
  • A comprehensive linkage analysis for myocardial infarction and its related risk factors. (Broeckel U, Hengstenberg C, Mayer B, Holmer S, Martin LJ, Comuzzie AG, Blangero J, Nürnberg P, Reis A, Riegger GA, Jacob HJ, Schunkert H) Nat Genet 2002 Feb;30(2):210-4 PMID: 11818963 01/31/2002       270 Citations
  • The future of genetic case-control studies. (Schork NJ, Fallin D, Thiel B, Xu X, Broeckel U, Jacob HJ, Cohen D) Adv Genet 2001;42:191-212 PMID: 11037322 10/19/2000       87 Citations
  • Localization of a small genomic region associated with elevated ACE. (Zhu X, McKenzie CA, Forrester T, Nickerson DA, Broeckel U, Schunkert H, Doering A, Jacob HJ, Cooper RS, Rieder MJ) Am J Hum Genet 2000 Nov;67(5):1144-53 PMID: 11001581 PMCID: PMC1288557 09/23/2000       105 Citations
  • Lack of association between a polymorphism of the aldosterone synthase gene and left ventricular structure. (Schunkert H, Hengstenberg C, Holmer SR, Broeckel U, Luchner A, Muscholl MW, Kürzinger S, Döring A, Hense HW, Riegger GA) Circulation 1999 May 04;99(17):2255-60 PMID: 10226090 05/05/1999       110 Citations
  • The associations of body size and body composition with left ventricular mass: impacts for indexation in adults. (Hense HW, Gneiting B, Muscholl M, Broeckel U, Kuch B, Doering A, Riegger GA, Schunkert H) J Am Coll Cardiol 1998 Aug;32(2):451-7 PMID: 9708475 08/26/1998       110 Citations
  • Left-ventricular dysfunction. (Schunkert H, Broeckel U, Hense HW, Keil U, Riegger GA) Lancet 1998 Jan 31;351(9099):372 PMID: 9652648 07/04/1998       16 Citations
  • Susceptibility genes for end-organ damage. New strategies to understand diabetic and hypertensive nephropathy. (Broeckel U, Shiozawa M, Kissebah AH, Provoost AP, Jacob HJ) Nephrol Dial Transplant 1998 Apr;13(4):840-2 PMID: 9568834 05/06/1998       4 Citations
  • Last update: 01/10/2019
    jenkins-FCD Prod-300 626508253d14e4184314fb9f66322a03a5906796