Ulrich Broeckel MD
Research Experience
Blood PressureCardiovascular DiseasesCoronary Artery DiseaseDNA Mutational AnalysisGene Expression ProfilingGenetic Association StudiesGenetic LinkageGenetic Predisposition to DiseaseGenetic TestingGenetic VariationGenome, HumanGenome-Wide Association StudyGenomicsGenotypeGenotyping TechniquesHypertensionHypertrophy, Left VentricularInduced Pluripotent Stem CellsMyocardial InfarctionOligonucleotide Array Sequence AnalysisPharmacogeneticsSequence Analysis, DNAVentricular Dysfunction, LeftMethodologies and Techniques
Case-Control StudiesDNADNA Copy Number VariationsDrug-Related Side Effects and Adverse ReactionsExomeGene Expression ProfilingGenetic Association StudiesGenetic Predisposition to DiseaseGenetic TestingGenetic VariationGenetics, PopulationGenome-Wide Association StudyGenotypeGenotyping TechniquesHigh-Throughput Nucleotide SequencingHumansHypertensionHypertrophy, Left VentricularMyocardial InfarctionPharmacogeneticsPolymorphism, Single NucleotideSequence Analysis, DNATranscriptomeVentricular Dysfunction, LeftLeadership Positions
Research Unit Leader: Genetics and Genomics, Children's Research InstituteAssociate Director for Pharmacogenomics, Genomic Sciences and Precision Medicine CtrChief, Section Genomic PediatricsPublications (150)
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies. (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) Nat Genet 2023 Jan;55(1):154-164 PMID: 36564505 PMCID: PMC10084891 SCOPUS ID: 2-s2.0-85144673676 12/24/2022 12 CitationsWhole genome sequence analysis of blood lipid levels in >66,000 individuals. (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) Nat Commun 2022 Oct 11;13(1):5995 PMID: 36220816 PMCID: PMC9553944 SCOPUS ID: 2-s2.0-85139608936 10/12/2022 19 CitationsCharacterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project. (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) J Mol Diagn 2022 Oct;24(10):1079-1088 PMID: 35931342 PMCID: PMC9554816 SCOPUS ID: 2-s2.0-85139374747 08/06/2022 7 CitationsAssessing the contribution of rare variants to complex trait heritability from whole-genome sequence data. (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) Nat Genet 2022 Mar;54(3):263-273 PMID: 35256806 PMCID: PMC9119698 SCOPUS ID: 2-s2.0-85126125467 03/09/2022 112 CitationsGenome sequencing unveils a regulatory landscape of platelet reactivity (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) Nature Communications 1 December 2021;12(1) SCOPUS ID: 2-s2.0-85108227070 12/01/2021 27 CitationsMulti-Ancestry Genome-wide Association Study Accounting for Gene-Psychosocial Factor Interactions Identifies Novel Loci for Blood Pressure Traits. (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) HGG Adv 2021 Jan 14;2(1) PMID: 34734193 PMCID: PMC8562625 SCOPUS ID: 2-s2.0-85119177602 11/05/2021 2 CitationsIncorporating G6PD genotyping to identify patients with G6PD deficiency. (Morris SA, Crews KR, Hayden RT, Takemoto CM, Yang W, Baker DK, Broeckel U, Relling MV, Haidar CE) Pharmacogenet Genomics 2022 Apr 01;32(3):87-93 PMID: 34693927 PMCID: PMC8976699 SCOPUS ID: 2-s2.0-85128159852 10/26/2021 5 CitationsA high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response. (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) Nat Genet 2021 Oct;53(10):1504-1516 PMID: 34611364 PMCID: PMC8959399 SCOPUS ID: 2-s2.0-85116750590 10/07/2021 49 CitationsWhole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program. (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) Genome Med 2021 Aug 26;13(1):136 PMID: 34446064 PMCID: PMC8394596 SCOPUS ID: 2-s2.0-85115041107 08/28/2021 18 CitationsProgress and Research Priorities in Imaging Genomics for Heart and Lung Disease: Summary of an NHLBI Workshop (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) Circulation: Cardiovascular Imaging 1 August 2021;14(8):E012943 SCOPUS ID: 2-s2.0-85113724192 08/01/2021 2 CitationsPersonal DNA Testing Increases Pharmacy Students' Confidence and Competence in Pharmacogenomics. (Assem M, Broeckel U, MacKinnon GE) Am J Pharm Educ 2021 Apr;85(4):8249 PMID: 34283790 PMCID: PMC8086609 SCOPUS ID: 2-s2.0-85104754005 07/21/2021 6 CitationsVariant-specific inflation factors for assessing population stratification at the phenotypic variance level. (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) Nat Commun 2021 Jun 09;12(1):3506 PMID: 34108454 PMCID: PMC8190158 SCOPUS ID: 2-s2.0-85107746519 06/11/2021 3 CitationsCharacterization 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. (Pratt VM, Turner A, Broeckel U, Dawson DB, Gaedigk A, Lynnes TC, Medeiros EB, Moyer AM, Requesens D, Vetrini F, Kalman LV) J Mol Diagn 2021 Aug;23(8):952-958 PMID: 34020041 PMCID: PMC8491090 SCOPUS ID: 2-s2.0-85109633971 05/22/2021 8 CitationsGenetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. (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) Genome Med 2021 Apr 21;13(1):66 PMID: 33883027 PMCID: PMC8059115 SCOPUS ID: 2-s2.0-85105154516 04/23/2021 20 CitationsChromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. (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) Nat Commun 2021 Apr 12;12(1):2182 PMID: 33846329 PMCID: PMC8042019 SCOPUS ID: 2-s2.0-85104367584 04/14/2021 12 CitationsDiscovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. (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) Am J Hum Genet 2021 Apr 01;108(4):564-582 PMID: 33713608 PMCID: PMC8059339 SCOPUS ID: 2-s2.0-85103409847 03/14/2021 15 CitationsWhole-Exome Sequencing and hiPSC Cardiomyocyte Models Identify MYRIP, TRAPPC11, and SLC27A6 of Potential Importance to Left Ventricular Hypertrophy in an African Ancestry Population. (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) Front Genet 2021;12:588452 PMID: 33679876 PMCID: PMC7933688 SCOPUS ID: 2-s2.0-85102295941 03/09/2021 6 CitationsIdentification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization. (Turner AJ, Aggarwal P, Boone EC, Haidar CE, Relling MV, Derezinski AD, Broeckel U, Gaedigk A) J Mol Diagn 2021 May;23(5):577-588 PMID: 33631352 PMCID: PMC8176139 SCOPUS ID: 2-s2.0-85104414851 02/26/2021 9 CitationsSequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. (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) Nature 2021 Feb;590(7845):290-299 PMID: 33568819 PMCID: PMC7875770 SCOPUS ID: 2-s2.0-85101000110 02/12/2021 723 CitationsDonor-specific phenotypic variation in hiPSC cardiomyocyte-derived exosomes impacts endothelial cell function. (Turner A, Aggarwal P, Matter A, Olson B, Gu CC, Hunt SC, Lewis CE, Arnett DK, Lorier R, Broeckel U) Am J Physiol Heart Circ Physiol 2021 Mar 01;320(3):H954-H968 PMID: 33416449 PMCID: PMC8294700 SCOPUS ID: 2-s2.0-85102212257 01/09/2021 9 CitationsPersonal DNA testing increases pharmacy students’ confidence and competence in pharmacogenomics (Assem M, Broeckel U, Mackinnon GE) American Journal of Pharmaceutical Education 2021;85(4):281-287 SCOPUS ID: 2-s2.0-85104754005 01/01/2021 6 CitationsInherited causes of clonal haematopoiesis in 97,691 whole genomes. (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) Nature 2020 Oct;586(7831):763-768 PMID: 33057201 PMCID: PMC7944936 SCOPUS ID: 2-s2.0-85092548094 10/16/2020 323 CitationsDetecting fitness epistasis in recently admixed populations with genome-wide data. (Ni X, Zhou M, Wang H, He KY, Broeckel U, Hanis C, Kardia S, Redline S, Cooper RS, Tang H, Zhu X) BMC Genomics 2020 Jul 11;21(1):476 PMID: 32652930 PMCID: PMC7353720 SCOPUS ID: 2-s2.0-85087904658 07/13/2020 2 CitationsGenomic integrity of human induced pluripotent stem cells across nine studies in the NHLBI NextGen program. (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) Stem Cell Res 2020 Jul;46:101803 PMID: 32442913 PMCID: PMC7575060 SCOPUS ID: 2-s2.0-85084799428 05/23/2020 7 CitationsGene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci. 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(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 SCOPUS ID: 2-s2.0-85007162462 12/15/2016 5 CitationsGenome-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 SCOPUS ID: 2-s2.0-85008253490 12/06/2016 8 CitationsWhat Can hiPSC-Cardiomyocytes Teach Us about Modeling Complex Human Disease Phenotypes? (Broeckel U) Cell Stem Cell 2016 Sep 01;19(3):282-4 PMID: 27588742 SCOPUS ID: 2-s2.0-84991056184 09/03/2016 2 CitationsConcomitant 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 SCOPUS ID: 2-s2.0-84994528711 08/24/2016 3 CitationsPharmacogenetics 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 Jul;138(1) PMID: 27335380 PMCID: PMC4925073 SCOPUS ID: 2-s2.0-84976869634 06/24/2016 81 CitationsComparison 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 Oct;100(4):380-8 PMID: 27311679 PMCID: PMC5684873 SCOPUS ID: 2-s2.0-84986625386 06/18/2016 40 CitationsIncorporating 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 SCOPUS ID: 2-s2.0-84959230547 02/27/2016 182 CitationsComprehensive 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 SCOPUS ID: 2-s2.0-84949678611 12/18/2015 67 CitationsThe 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 SCOPUS ID: 2-s2.0-84950107978 12/02/2015 6 CitationsCharacterization 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 SCOPUS ID: 2-s2.0-84954064957 12/02/2015 104 CitationsDirectional 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 SCOPUS ID: 2-s2.0-84937889764 07/02/2015 118 CitationsPCSK9 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 SCOPUS ID: 2-s2.0-84940046533 04/24/2015 23 CitationsGenomic methods in the diagnosis and treatment of pediatric kidney disease (Maresso K, Broeckel U) Pediatric Nephrology, Seventh Edition 1 January 2015:499-523 SCOPUS ID: 2-s2.0-84957655346 01/01/2015 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 SCOPUS ID: 2-s2.0-84919632833 10/29/2014 12 CitationsPreemptive 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 SCOPUS ID: 2-s2.0-84920866837 10/09/2014 355 CitationsRNA 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 SCOPUS ID: 2-s2.0-84907587769 09/26/2014 43 CitationsPharmacokinetics 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 SCOPUS ID: 2-s2.0-84939890862 08/15/2014 20 CitationsVoriconazole 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 SCOPUS ID: 2-s2.0-84905446128 08/02/2014 53 CitationsDevelopment 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 SCOPUS ID: 2-s2.0-84902547661 03/19/2014 2 CitationsPG4KDS: 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 SCOPUS ID: 2-s2.0-84896319867 03/13/2014 216 CitationsDevelopment 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 SCOPUS ID: 2-s2.0-84893549013 08/28/2013 170 CitationsGenome-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 SCOPUS ID: 2-s2.0-84883824600 08/27/2013 154 CitationsGenome-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 SCOPUS ID: 2-s2.0-84884607859 08/24/2013 104 CitationsSORCS1 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 SCOPUS ID: 2-s2.0-84882674017 06/20/2013 12 CitationsWhole-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 SCOPUS ID: 2-s2.0-84885863395 05/25/2013 40 CitationsClinical, 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 SCOPUS ID: 2-s2.0-84874101778 05/09/2013 86 CitationsA 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 SCOPUS ID: 2-s2.0-84876807719 05/01/2013 24 CitationsThe 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 SCOPUS ID: 2-s2.0-84880727398 04/17/2013 141 CitationsA 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 SCOPUS ID: 2-s2.0-84878720938 04/16/2013 203 CitationsQTL-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 SCOPUS ID: 2-s2.0-84885386475 02/19/2013 11 CitationsIL-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 SCOPUS ID: 2-s2.0-84871173673 11/06/2012 71 CitationsGenetics, 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 SCOPUS ID: 2-s2.0-84869846056 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 SCOPUS ID: 2-s2.0-84873703270 10/26/2012 24 CitationsGenome-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 SCOPUS ID: 2-s2.0-84870333736 09/25/2012 182 CitationsA 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 SCOPUS ID: 2-s2.0-84867848963 09/20/2012 87 CitationsConcordance 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 SCOPUS ID: 2-s2.0-84865431148 08/09/2012 37 CitationsCopy 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 SCOPUS ID: 2-s2.0-84870302695 07/28/2012 14 CitationsGenome-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(5):e119 PMID: 22832964 PMCID: PMC3365260 SCOPUS ID: 2-s2.0-84861308971 07/27/2012 87 CitationsWhole-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 SCOPUS ID: 2-s2.0-84870997412 06/02/2012 19 CitationsGenotype 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 SCOPUS ID: 2-s2.0-84862254279 05/31/2012 12 CitationsPITX2 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 SCOPUS ID: 2-s2.0-84869223456 05/10/2012 113 CitationsObesity-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 SCOPUS ID: 2-s2.0-84864286721 03/06/2012 9 CitationsHuman 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 SCOPUS ID: 2-s2.0-84862128193 02/10/2012 84 CitationsLoss-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 SCOPUS ID: 2-s2.0-84858176165 12/27/2011 39 CitationsCystic 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 SCOPUS ID: 2-s2.0-84864425704 11/01/2011 13 CitationsGenome-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 SCOPUS ID: 2-s2.0-80052067433 09/09/2011 38 CitationsVariants 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 SCOPUS ID: 2-s2.0-80054911721 08/19/2011 15 CitationsCharacterization 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 SCOPUS ID: 2-s2.0-81455131744 06/16/2011 5 CitationsBMP4 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 SCOPUS ID: 2-s2.0-80054867601 02/23/2011 91 CitationsThe 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 SCOPUS ID: 2-s2.0-79955568373 02/12/2011 39 CitationsGenome-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 SCOPUS ID: 2-s2.0-78651085347 01/13/2011 11 CitationsGenetic 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 SCOPUS ID: 2-s2.0-79751535563 01/08/2011 42 CitationsPhosducin 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, Biel M, Stoll M, Lohse MJ, Broeckel U, Hein L) Journal of Clinical Investigation 4 January 2011;121(1):454 SCOPUS ID: 2-s2.0-78650954275 01/04/2011 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 SCOPUS ID: 2-s2.0-79952040382 12/31/2010 4 CitationsMaking 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 SCOPUS ID: 2-s2.0-79251645624 12/22/2010 597 CitationsAdducin 1 (alpha) GLY460TRP variant is associated with left ventricular geometry in Caucasians and African Americans: The hyperGEN study (Chauhan K, Devereux RB, Rao DC, Broeckel U, Gu CC, Hopkins P, Arnett DK) International Journal of Molecular Epidemiology and Genetics 2010;1(4):367-376 SCOPUS ID: 2-s2.0-78449259947 11/23/2010 1 CitationPotential 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 SCOPUS ID: 2-s2.0-79955934874 10/01/2010 41 CitationsAdducin 1 (alpha) Gly460Trp variant is associated with left ventricular geometry in caucasians and african americans: The HyperGEN study (Chauhan K, Devereux RB, Rao DC, Broeckel U, Gu CC, Hopkins P, Arnett DK) International Journal of Molecular Epidemiology and Genetics 2010;1(2):114-123 SCOPUS ID: 2-s2.0-77954636935 07/21/2010 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 SCOPUS ID: 2-s2.0-77956102449 07/06/2010 20 CitationsMultiplexed 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 SCOPUS ID: 2-s2.0-77957122165 06/17/2010 35 CitationsAdducin 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 SCOPUS ID: 2-s2.0-72849116579 12/05/2009 39 CitationsNovel 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 SCOPUS ID: 2-s2.0-67649694817 07/14/2009 31 CitationsAn 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 SCOPUS ID: 2-s2.0-66649113371 06/06/2009 342 CitationsGenome-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 SCOPUS ID: 2-s2.0-66649106445 05/21/2009 40 CitationsThe role of genomics in the neonatal ICU. (Maresso K, Broeckel U) Clin Perinatol 2009 Mar;36(1):189-204 PMID: 19161875 SCOPUS ID: 2-s2.0-58249139708 01/24/2009 3 CitationsErratum: Pediatric onset Crohn's colitis is characterized by genotype-dependent age-related susceptibility (Inflamatory Bowel Diseases vol. 13 (1509-1515)) (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) Inflammatory Bowel Diseases 2008;14(12):1760 SCOPUS ID: 2-s2.0-61649121741 12/01/2008 Genetic determinants of hypertension: an update. (Harrison M, Maresso K, Broeckel U) Curr Hypertens Rep 2008 Dec;10(6):488-95 PMID: 18959837 SCOPUS ID: 2-s2.0-58949094003 10/31/2008 31 CitationsGenotyping platforms for mass-throughput genotyping with SNPs, including human genome-wide scans. (Maresso K, Broeckel U) Adv Genet 2008;60:107-39 PMID: 18358318 SCOPUS ID: 2-s2.0-40749113123 03/25/2008 29 CitationsPediatric 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 SCOPUS ID: 2-s2.0-38049058330 09/01/2007 54 CitationsSignal 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 SCOPUS ID: 2-s2.0-34547764285 08/01/2007 57 CitationsPediatric inflammatory bowel disease: clinical and molecular genetics. (Biank V, Broeckel U, Kugathasan S) Inflamm Bowel Dis 2007 Nov;13(11):1430-8 PMID: 17600381 SCOPUS ID: 2-s2.0-36749081017 06/30/2007 64 CitationsA 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 SCOPUS ID: 2-s2.0-34447282010 05/29/2007 9 CitationsLymphotoxin-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 SCOPUS ID: 2-s2.0-34547848794 05/15/2007 22 CitationsDLG5 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 SCOPUS ID: 2-s2.0-33846509730 12/13/2006 39 CitationsLinkage analysis for complex diseases using variance component analysis: SOLAR. (Broeckel U, Maresso K, Martin LJ) Methods Mol Med 2006;128:91-100 PMID: 17071991 SCOPUS ID: 2-s2.0-39049191922 10/31/2006 2 CitationsFunctional 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 SCOPUS ID: 2-s2.0-33749253924 10/10/2006 4 CitationsContribution 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 SCOPUS ID: 2-s2.0-33744808327 06/15/2006 45 CitationsEvidence 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 SCOPUS ID: 2-s2.0-33645012263 02/01/2006 58 CitationsToward the etiologies of congenital heart diseases. (Pelech AN, Broeckel U) Clin Perinatol 2005 Dec;32(4):825-44, vii PMID: 16325664 SCOPUS ID: 2-s2.0-28444461497 12/06/2005 10 CitationsSingle-nucleotide polymorphisms: Testing DNA variation for disease association (Broeckel U, Hessner MJ) Molecular Diagnostics: For the Clinical Laboratorian 2005:111-120 SCOPUS ID: 2-s2.0-84891400079 12/01/2005 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 SCOPUS ID: 2-s2.0-27744547595 09/06/2005 19 CitationsComparative 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 SCOPUS ID: 2-s2.0-21844440348 06/24/2005 70 CitationsQuantitative 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 SCOPUS ID: 2-s2.0-20244390026 04/01/2005 69 CitationsDistinct 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 SCOPUS ID: 2-s2.0-20044382611 02/16/2005 149 CitationsCARD15 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 SCOPUS ID: 2-s2.0-9144271221 11/20/2004 86 CitationsGenes for left ventricular hypertrophy. (Arnett DK, de las Fuentes L, Broeckel U) Curr Hypertens Rep 2004 Feb;6(1):36-41 PMID: 14972088 SCOPUS ID: 2-s2.0-4043174072 02/20/2004 37 CitationsIdentifying 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 SCOPUS ID: 2-s2.0-0348184970 12/18/2003 19 CitationsPrevalence 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 SCOPUS ID: 2-s2.0-0037321921 02/13/2003 332 CitationsIdentification 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 SCOPUS ID: 2-s2.0-0036840308 11/02/2002 22 CitationsA 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 SCOPUS ID: 2-s2.0-18544372620 01/31/2002 287 CitationsThe 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 SCOPUS ID: 2-s2.0-0035220161 10/19/2000 89 CitationsLocalization 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 SCOPUS ID: 2-s2.0-0033764915 09/23/2000 109 CitationsLack 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 SCOPUS ID: 2-s2.0-0032937208 05/05/1999 112 CitationsThe 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 SCOPUS ID: 2-s2.0-0032145715 08/26/1998 132 CitationsLeft-ventricular dysfunction. (Schunkert H, Broeckel U, Hense HW, Keil U, Riegger GA) Lancet 1998 Jan 31;351(9099):372 PMID: 9652648 SCOPUS ID: 2-s2.0-0032583724 07/04/1998 16 CitationsLeft-ventricular dysfunction. (Dutka DP) Lancet 1998 Jan 31;351(9099):371; author reply 371-2 PMID: 9652647 SCOPUS ID: 2-s2.0-0032583941 07/04/1998 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 SCOPUS ID: 2-s2.0-0031926395 05/06/1998 4 Citations
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