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Demerath EW, Guan W, Grove ML, Aslibekyan S, Mendelson M, Zhou Y-H, Hedman ÅK, Sandling JK, Li L-A, Irvin MR, Zhi D, Deloukas P, Liang L, Liu C, Bressler J, Spector TD, North K, Li Y, Absher DM, Levy D, Arnett DK, Fornage M, Pankow JS, Boerwinkle E. Epigenome-wide association study (EWAS) of BMI, BMI change and waist circumference in African American adults identifies multiple replicated loci. Hum Mol Genet. 2015 ;24(15):4464-79.
Sun D, Luo M, Jeong M, Rodriguez B, Xia Z, Hannah R, Wang H, Le T, Faull KF, Chen R, Gu H, Bock C, Meissner A, Göttgens B, Darlington GJ, Li W, Goodell MA. Epigenomic profiling of young and aged HSCs reveals concerted changes during aging that reinforce self-renewal. Cell Stem Cell. 2014 ;14(5):673-88.
Klos KLE, Boerwinkle E, Ferrell RE, Turner ST, Morrison AC. ESR1 polymorphism is associated with plasma lipid and apolipoprotein levels in Caucasians of the Rochester Family Heart Study. J Lipid Res. 2008 ;49(8):1701-6.
Bonnen PE, Lowe JK, Altshuler DM, Breslow JL, Stoffel M, Friedman JM, Pe'er I. European admixture on the Micronesian island of Kosrae: lessons from complete genetic information. Eur J Hum Genet. 2010 ;18(3):309-16.
Morrison AC, Brown A, Kardia SLR, Turner ST, Boerwinkle E. Evaluating the context-dependent effect of family history of stroke in a genome scan for hypertension. Stroke. 2003 ;34(5):1170-5.
Burger H, Weiser B, Flaherty K, Gulla J, Nguyen PN, Gibbs RA. Evolution of human immunodeficiency virus type 1 nucleotide sequence diversity among close contacts. Proc Natl Acad Sci U S A. 1991 ;88(24):11236-40.
Gibbs RA, Rogers J, Katze MG, Bumgarner R, Weinstock GM, Mardis ER, Remington KA, Strausberg RL, J Venter C, Wilson RK, Batzer MA, Bustamante CD, Eichler EE, Hahn MW, Hardison RC, Makova KD, Miller W, Milosavljevic A, Palermo RE, Siepel A, Sikela JM, Attaway T, Bell S, Bernard KE, Buhay CJ, Chandrabose MN, Dao M, Davis C, Delehaunty KD, Ding Y, Dinh HH, Dugan-Rocha S, Fulton LA, Gabisi RAyiesha, Garner TT, Godfrey J, Hawes AC, Hernandez J, Hines S, Holder M, Hume J, Jhangiani SN, Joshi V, Khan ZMohid, Kirkness EF, Cree A, R Fowler G, Lee S, Lewis LR, Li Z, Liu Y-S, Moore SM, Muzny DM, Nazareth LV, Ngo DNgoc, Okwuonu GO, Pai G, Parker D, Paul HA, Pfannkoch C, Pohl CS, Rogers Y-H, Ruiz SJuana, Sabo A, Santibanez J, Schneider BW, Smith SM, Sodergren E, Svatek AF, Utterback TR, Vattathil S, Warren W, White CSherell, Chinwalla AT, Feng Y, Halpern AL, Hillier LDW, Huang X, Minx P, Nelson JO, Pepin KH, Qin X, Sutton GG, Venter E, Walenz BP, Wallis JW, Worley KC, Yang S-P, Jones SM, Marra MA, Rocchi M, Schein JE, Baertsch R, Clarke L, Csuros M, Glasscock J, Harris RA, Havlak P, Jackson AR, Jiang H, Liu Y, Messina DN, Shen Y, Song HXing-Zhi, Wylie T, Zhang L, Birney E, Han K, Konkel MK, Lee J, Smit AFA, Ullmer B, Wang H, Xing J, Burhans R, Cheng Z, Karro JE, Ma J, Raney B, She X, Cox MJ, Demuth JP, Dumas LJ, Han S-G, Hopkins J, Karimpour-Fard A, Kim YH, Pollack JR, Vinar T, Addo-Quaye C, Degenhardt J, Denby A, Hubisz MJ, Indap A, Kosiol C, Lahn BT, Lawson HA, Marklein A, Nielsen R, Vallender EJ, Clark AG, Ferguson B, Hernandez RD, Hirani K, Kehrer-Sawatzki H, Kolb J, Patil S, Pu L-L, Ren Y, Smith DGlenn, Wheeler DA, Schenck I, Ball EV, Chen R, Cooper DN, Giardine B, Hsu F, W Kent J, Lesk A, Nelson DL, O'brien WE, Prüfer K, Stenson PD, Wallace JC, Ke H, Liu X-M, Wang P, Xiang APeng, Yang F, Barber GP, Haussler D, Karolchik D, Kern AD, Kuhn RM, Smith KE, Zwieg AS. Evolutionary and biomedical insights from the rhesus macaque genome. Science. 2007 ;316(5822):222-34.
Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, Wei Y, Abboud EB, Al-Rajhi AA, Lewis RAlan, Lupski JR, Mardon G, Gibbs RA, Perkins BD, Chen R. Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011 ;17:3529-40.
Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM, Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep. 2015 ;12(7):1169-83.
Bayram Y, Aydin H, Gambin T, Akdemir ZCoban, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR. Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. Am J Med Genet A. 2015 ;167A(9):2132-7.
Rajagopal A, Braslavsky D, Lu JT, Kleppe S, Clément F, Cassinelli H, Liu DS, Liern JMiguel, Vallejo G, Bergadá I, Gibbs RA, Campeau PM, Lee BH. Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis. J Clin Endocrinol Metab. 2014 ;99(11):E2451-6.
Do R, Stitziel NO, Won H-H, Jørgensen ABerg, Duga S, Merlini PAngelica, Kiezun A, Farrall M, Goel A, Zuk O, Guella I, Asselta R, Lange LA, Peloso GM, Auer PL, Girelli D, Martinelli N, Farlow DN, DePristo MA, Roberts R, Stewart AFR, Saleheen D, Danesh J, Epstein SE, Sivapalaratnam S, G Hovingh K, Kastelein JJ, Samani NJ, Schunkert H, Erdmann J, Shah SH, Kraus WE, Davies R, Nikpay M, Johansen CT, Wang J, Hegele RA, Hechter E, Marz W, Kleber ME, Huang J, Johnson AD, Li M, Burke GL, Gross M, Liu Y, Assimes TL, Heiss G, Lange EM, Folsom AR, Taylor HA, Olivieri O, Hamsten A, Clarke R, Reilly DF, Yin W, Rivas MA, Donnelly P, Rossouw JE, Psaty BM, Herrington DM, Wilson JG, Rich SS, Bamshad MJ, Tracy RP, L Cupples A, Rader DJ, Reilly MP, Spertus JA, Cresci S, Hartiala J, Tang WHWilson, Hazen SL, Allayee H, Reiner AP, Carlson CS, Kooperberg C, Jackson RD, Boerwinkle E, Lander ES, Schwartz SM, Siscovick DS, McPherson R, Tybjaerg-Hansen A, Abecasis GR, Watkins H, Nickerson DA, Ardissino D, Sunyaev SR, O'Donnell CJ, Altshuler D, Gabriel S, Kathiresan S. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature. 2015 ;518(7537):102-6.
Craigen WJ, Graham BH, Wong L-J, Scaglia F, Lewis RAlan, Bonnen PE. Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 ;14:83.
Pehlivan D, Akdemir ZCoban, Karaca E, Bayram Y, Jhangiani S, Yildiz EPembegul, Muzny DM, Uluc K, Gibbs RA, Elcioglu N, Lupski JR, Harel T. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet. 2015 ;134(6):671-3.
Okamoto Y, Goksungur MTuba, Pehlivan D, Beck CR, Gonzaga-Jauregui C, Muzny DM, Atik MM, Carvalho CMB, Matur Z, Bayraktar S, Boone PM, Akyuz K, Gibbs RA, Battaloglu E, Parman Y, Lupski JR. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 ;16(5):386-94.
Hanchard NA, Murdock DR, Magoulas PL, Bainbridge MN, Muzny DM, Wu Y, Wang M, Lupski JR, Gibbs RA, Brown CW. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet. 2013 ;83(5):457-461.
F
Aleksic N, Ahn C, Wang Y-W, Juneja H, Folsom AR, Boerwinkle E, Wu KK. Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disease: The Atherosclerosis Risk in Communities (ARIC) Study. Arterioscler Thromb Vasc Biol. 2002 ;22(2):348-52.
Rahbar MH, Samms-Vaughan M, Dickerson AS, Loveland KA, Ardjomand-Hessabi M, Bressler J, Shakespeare-Pellington S, Grove ML, Boerwinkle E. Factors associated with blood lead concentrations of children in Jamaica. J Environ Sci Health A Tox Hazard Subst Environ Eng. 2015 ;50(6):529-39.
Guo D-chuan, Regalado ES, Minn C, Tran-Fadulu V, Coney J, Cao J, Wang M, Yu RK, Estrera AL, Safi HJ, Shete SS, Milewicz DM. Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection. Circ Cardiovasc Genet. 2011 ;4(1):36-42.
Fornage M, Mosley TH, Jack CR, de Andrade M, Kardia SLR, Boerwinkle E, Turner ST. Family-based association study of matrix metalloproteinase-3 and -9 haplotypes with susceptibility to ischemic white matter injury. Hum Genet. 2007 ;120(5):671-80.
Bressler J, Fornage M, Demerath EW, Knopman DS, Monda KL, North KE, Penman A, Mosley TH, Boerwinkle E. Fat mass and obesity gene and cognitive decline: the Atherosclerosis Risk in Communities Study. Neurology. 2013 ;80(1):92-9.
Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny DM, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, Scott DA. FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 ;167A(4):831-6.
Howson JMM, Zhao W, Barnes DR, Ho W-K, Young R, Paul DS, Waite LL, Freitag DF, Fauman EB, Salfati EL, Sun BB, Eicher JD, Johnson AD, Sheu WHH, Nielsen SF, Lin W-Y, Surendran P, Mälarstig A, Wilk JB, Tybjærg-Hansen A, Rasmussen KL, Kamstrup PR, Deloukas P, Erdmann J, Kathiresan S, Samani NJ, Schunkert H, Watkins H, Do R, Rader DJ, Johnson JA, Hazen SL, Quyyumi AA, Spertus JA, Pepine CJ, Franceschini N, Justice A, Reiner AP, Buyske S, Hindorff LA, Carty CL, North KE, Kooperberg C, Boerwinkle E, Young K, Graff M, Peters U, Absher D, Hsiung CA, Lee W-J, Taylor KD, Chen Y-H, Lee I-T, Guo X, Chung R-H, Hung Y-J, Rotter JI, Juang J-MJ, Quertermous T, Wang T-D, Rasheed A, Frossard P, Alam DS, Majumder AAl Shafi, Di Angelantonio E, Chowdhury, iv R, Chen Y-DIda, Nordestgaard BG, Assimes TL, Danesh J, Butterworth AS, Saleheen D. Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms. Nat Genet. 2017 ;49(7):1113-1119.
Wang M, Zhang Z, Zhang Z, Vikis H, Yan Y, Wang Y, You M. Fine mapping and candidate gene analyses of pulmonary adenoma resistance 1, a major genetic determinant of mouse lung adenoma resistance. Cancer Res. 2007 ;67(6):2508-16.
Zhang Z, Lin L, Liu G, Wang M, Hill J, Wang Y, You M, Devereux TR. Fine mapping and characterization of candidate lung tumor resistance genes for the Par2 locus on mouse chromosome 18. Exp Lung Res. 2000 ;26(8):627-39.