Publications

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2017
Seidelmann SB, Vardeny O, Claggett B, Yu B, Shah AM, Ballantyne CM, Selvin E, MacRae CA, Boerwinkle E, Solomon SD. An Promoter Polymorphism Associated With Elevated N-Terminal pro-B-Type Natriuretic Peptide and Lower Blood Pressure, Hypertension, and Mortality. J Am Heart Assoc. 2017 ;6(4).
Bayram Y, White JJ, Elcioglu N, Cho MT, Zadeh N, Gedikbasi A, Palanduz S, Ozturk S, Cefle K, Kasapcopur O, Akdemir ZCoban, Pehlivan D, Begtrup A, Carvalho CMB, Paine ISophie, Mentes A, Bektas-Kayhan K, Karaca E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 2017 ;101(1):149-156.
Vogelaar IP, van der Post RS, J van Krieken HJm, Spruijt L, van Zelst-Stams WAg, C Kets M, Lubinski J, Jakubowska A, Teodorczyk U, Aalfs CM, van Hest LP, Pinheiro H, Oliveira C, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, de Ligt J, Vissers LELM, Hoischen A, Gilissen C, van de Vorst M, Goeman JJ, Schackert HK, Ranzani GN, Molinaro V, García EBGómez, Hes FJ, Holinski-Feder E, Genuardi M, Ausems MGEM, Sijmons RH, Wagner A, van der Kolk LE, Bjørnevoll I, Høberg-Vetti H, van Kessel AGeurts, Kuiper RP, Ligtenberg MJL, Hoogerbrugge N. Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. Eur J Hum Genet. 2017 ;25(11):1246-1252.
Simino J, Wang Z, Bressler J, Chouraki V, Yang Q, Younkin SG, Seshadri S, Fornage M, Boerwinkle E, Mosley TH. Whole exome sequence-based association analyses of plasma amyloid-β in African and European Americans; the Atherosclerosis Risk in Communities-Neurocognitive Study. PLoS One. 2017 ;12(7):e0180046.
Sá ACaroline C, Webb A, Gong Y, McDonough CW, Datta S, Langaee TY, Turner ST, Beitelshees AL, Chapman AB, Boerwinkle E, Gums JG, Scherer SE, Cooper-Dehoff RM, Sadee W, Johnson JA. Whole Transcriptome Sequencing Analyses Reveal Molecular Markers of Blood Pressure Response to Thiazide Diuretics. Sci Rep. 2017 ;7(1):16068.
de Vries PS, Yu B, Feofanova EV, Metcalf GA, Brown MR, Zeighami AL, Liu X, Muzny DM, Gibbs RA, Boerwinkle E, Morrison AC. Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study. Hum Mol Genet. 2017 ;26(17):3442-3450.
2016
Willems SM, Cornes BK, Brody JA, Morrison AC, Lipovich L, Dauriz M, Chen Y, Liu C-T, Rybin DV, Gibbs RA, Muzny DM, Pankow JS, Psaty BM, Boerwinkle E, Rotter JI, Siscovick DS, Vasan RS, Kaplan RC, Isaacs A, Dupuis J, van Duijn CM, Meigs JB. Association of the IGF1 gene with fasting insulin levels. Eur J Hum Genet. 2016 ;24(9):1337-43.
Vetrini F, D'Alessandro LCA, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 ;99(4):886-893.
Vu KN, Ballantyne CM, Hoogeveen RC, Nambi V, Volcik KA, Boerwinkle E, Morrison AC. Causal Role of Alcohol Consumption in an Improved Lipid Profile: The Atherosclerosis Risk in Communities (ARIC) Study. PLoS One. 2016 ;11(2):e0148765.
Macias A, Gambin T, Szafranski P, Jhangiani SN, Kolasa A, Obersztyn E, Lupski JR, Stankiewicz P, Kaminska A. CAV3 mutation in a patient with transient hyperCKemia and myalgia. Neurol Neurochir Pol. 2016 ;50(6):468-473.
Lee W, Xie Y, Zernant J, Yuan B, Bearelly S, Tsang SH, Lupski JR, Allikmets R. Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes. Hum Genet. 2016 ;135(1):9-19.
Zheng S, Cherniack AD, Dewal N, Moffitt RA, Danilova L, Murray BA, Lerario AM, Else T, Knijnenburg TA, Ciriello G, Kim S, Assie G, Morozova O, Akbani R, Shih J, Hoadley KA, Choueiri TK, Waldmann J, Mete O, A Robertson G, Wu H-T, Raphael BJ, Shao L, Meyerson M, Demeure MJ, Beuschlein F, Gill AJ, Sidhu SB, Almeida MQ, Fragoso MCBV, Cope LM, Kebebew E, Habra MA, Whitsett TG, Bussey KJ, Rainey WE, Asa SL, Bertherat J, Fassnacht M, Wheeler DA, Hammer GD, Giordano TJ, Verhaak RGW. Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma. Cancer Cell. 2016 ;29(5):723-736.
J Smith G, Felix JF, Morrison AC, Kalogeropoulos A, Trompet S, Wilk JB, Gidlöf O, Wang X, Morley M, Mendelson M, Joehanes R, Ligthart S, Shan X, Bis JC, Wang YA, Sjögren M, Ngwa J, Brandimarto J, Stott DJ, Aguilar D, Rice KM, Sesso HD, Demissie S, Buckley BM, Taylor KD, Ford I, Yao C, Liu C, Sotoodehnia N, van der Harst P, Stricker BHCh, Kritchevsky SB, Liu Y, J Gaziano M, Hofman A, Moravec CS, Uitterlinden AG, Kellis M, van Meurs JB, Margulies KB, Dehghan A, Levy D, Olde B, Psaty BM, L Cupples A, J Jukema W, Djousse L, Franco OH, Boerwinkle E, Boyer LA, Newton-Cheh C, Butler J, Vasan RS, Cappola TP, Smith NL. Discovery of Genetic Variation on Chromosome 5q22 Associated with Mortality in Heart Failure. PLoS Genet. 2016 ;12(5):e1006034.
Rhee EP, Yang Q, Yu B, Liu X, Cheng S, Deik A, Pierce KA, Bullock K, Ho JE, Levy D, Florez JC, Kathiresan S, Larson MG, Vasan RS, Clish CB, Wang TJ, Boerwinkle E, O'Donnell CJ, Gerszten RE. An exome array study of the plasma metabolome. Nat Commun. 2016 ;7:12360.
Tan H, Deng B, Yu H, Yang Y, Ding L, Zhang Q, Qin J, Kijlstra A, Chen R, Yang P. Genetic analysis of innate immunity in Behcet's disease identifies an association with IL-37 and IL-18RAP. Sci Rep. 2016 ;6:35802.
Guo D-chuan, Grove ML, Prakash SK, Eriksson P, Hostetler EM, LeMaire SA, Body SC, Shalhub S, Estrera AL, Safi HJ, Regalado ES, Zhou W, Mathis MR, Eagle KA, Yang B, Willer CJ, Boerwinkle E, Milewicz DM. Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections. Am J Hum Genet. 2016 ;99(3):762-769.
Yazdani A, Yazdani A, Liu X, Boerwinkle E. Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis. Genet Epidemiol. 2016 ;40(6):486-91.
Ogunwale AN, Morrison AC, Sun W, Dodge RC, Virani SS, Taylor A, Gottesman RF, Yang E, Wei P, McEvoy JW, Heiss G, Boerwinkle E, Ballantyne CM, Nambi V. The impact of multiple single day blood pressure readings on cardiovascular risk estimation: The Atherosclerosis Risk in Communities study. Eur J Prev Cardiol. 2016 ;23(14):1529-36.
Yu B, Li AH, Metcalf GA, Muzny DM, Morrison AC, White S, Mosley TH, Gibbs RA, Boerwinkle E. Loss-of-function variants influence the human serum metabolome. Sci Adv. 2016 ;2(8):e1600800.
van Leeuwen EM, Sabo A, Bis JC, Huffman JE, Manichaikul A, Smith AV, Feitosa MF, Demissie S, Joshi PK, Duan Q, Marten J, van Klinken JB, Surakka I, Nolte IM, Zhang W, Mbarek H, Li-Gao R, Trompet S, Verweij N, Evangelou E, Lyytikäinen L-P, Tayo BO, Deelen J, van der Most PJ, van der Laan SW, Arking DE, Morrison A, Dehghan A, Franco OH, Hofman A, Rivadeneira F, Sijbrands EJ, Uitterlinden AG, Mychaleckyj JC, Campbell A, Hocking LJ, Padmanabhan S, Brody JA, Rice KM, White CC, Harris T, Isaacs A, Campbell H, Lange LA, Rudan I, Kolcic I, Navarro P, Zemunik T, Salomaa V, Kooner AS, Kooner JS, Lehne B, Scott WR, Tan S-T, de Geus EJ, Milaneschi Y, Penninx BWJH, Willemsen G, de Mutsert R, Ford I, Gansevoort RT, Segura-Lepe MP, Raitakari OT, Viikari JS, Nikus K, Forrester T, McKenzie CA, de Craen AJM, de Ruijter HM, Pasterkamp G, Snieder H, Oldehinkel AJ, P Slagboom E, Cooper RS, Kähönen M, Lehtimäki T, Elliott P, van der Harst P, J Jukema W, Mook-Kanamori DO, Boomsma DI, Chambers JC, Swertz M, Ripatti S, van Dijk KWillems, Vitart V, Polasek O, Hayward C, Wilson JG, Wilson JF, Gudnason V, Rich SS, Psaty BM, Borecki IB, Boerwinkle E, Rotter JI, L Cupples A, van Duijn CM. Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels. J Med Genet. 2016 ;53(7):441-9.
Eckstein OS, Wang L, Punia JN, Kornblau SM, Andreeff M, Wheeler DA, Goodell MA, Rau RE. Mixed-phenotype acute leukemia (MPAL) exhibits frequent mutations in DNMT3A and activated signaling genes. Exp Hematol. 2016 ;44(8):740-4.
Xu M, Yamada T, Sun Z, Eblimit A, Lopez I, Wang F, Manya H, Xu S, Zhao L, Li Y, Kimchi A, Sharon D, Sui R, Endo T, Koenekoop RK, Chen R. Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016 ;25(8):1479-88.
Shim J-J, Oh IHwan, Kim SBae, Kim JWook, Lee CKyun, Jang JYoung, Lee J-S, Kim B-H. Predictive Value of Antiviral Effects in the Development of Hepatocellular Carcinoma in the General Korean Population with Chronic Hepatitis B. Gut Liver. 2016 ;10(6):962-968.
Daly AF, Yuan B, Fina F, Caberg J-H, Trivellin G, Rostomyan L, de Herder WW, Naves LA, Metzger D, Cuny T, Rabl W, Shah N, Jaffrain-Rea M-L, Zatelli MChiara, Faucz FR, Castermans E, Nanni-Metellus I, Lodish M, Muhammad A, Palmeira L, Potorac I, Mantovani G, Neggers SJ, Klein M, Barlier A, Liu P, Ouafik L'H, Bours V, Lupski JR, Stratakis CA, Beckers A. Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects. Endocr Relat Cancer. 2016 ;23(4):221-33.
Hsu Y-H, Li G, Liu C-T, Brody JA, Karasik D, Chou W-C, Demissie S, Nandakumar K, Zhou Y, Cheng C-H, Gill R, Gibbs RA, Muzny DM, Santibanez J, Estrada K, Rivadeneira F, Harris T, Gudnason V, Uitterlinden A, Psaty BM, Robbins JA, L Cupples A, Kiel DP. Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study. Hum Mol Genet. 2016 ;25(23):5234-5243.