Publications

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2018
Normand EA, Braxton A, Nassef S, Ward PA, Vetrini F, He W, Patel V, Qu C, Westerfield LE, Stover S, Dharmadhikari AV, Muzny DM, Gibbs RA, Dai H, Meng L, Wang X, Xiao R, Liu P, Bi W, Xia F, Walkiewicz M, Van den Veyver IB, Eng CM, Yang Y. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 ;10(1):74.
2017
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.
2015
Jalali A, E Amirian S, Bainbridge MN, Armstrong GN, Liu Y, Tsavachidis S, Jhangiani SN, Plon SE, Lau CC, Claus EB, Barnholtz-Sloan JS, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Muzny DM, Gibbs RA, Melin BS, Bondy ML. Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Sci Rep. 2015 ;5:8278.
Shetty PB, Tang H, Feng T, Tayo B, Morrison AC, Kardia SLR, Hanis CL, Arnett DK, Hunt SC, Boerwinkle E, Rao DC, Cooper RS, Risch N, Zhu X. Variants for HDL-C, LDL-C, and triglycerides identified from admixture mapping and fine-mapping analysis in African American families. Circ Cardiovasc Genet. 2015 ;8(1):106-13.
Sheng X, Chen X, Lei B, Chen R, Wang H, Zhang F, Rong W, Ha R, Liu Y, Zhao F, Yang P, Zhao C. Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia. J Transl Med. 2015 ;13:179.
2014
Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Elcioglu NH, M Yildirim S, Bozkurt B, Zamani AGul, Boerwinkle E, Gibbs RA, Lupski JR. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A. 2014 ;164A(9):2328-34.
2011
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.
Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, Gore A, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Zhang K, Muzny DM, Gibbs RA, Chen R. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011 ;32(12):1450-9.
2010
Cole SA, Butte NF, V Voruganti S, Cai G, Haack K, Kent JW, Blangero J, Comuzzie AG, McPherson JD, Gibbs RA. Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children. Am J Clin Nutr. 2010 ;91(1):191-9.
2008
McGuire AL, Caulfield T, Cho MK. Research ethics and the challenge of whole-genome sequencing. Nat Rev Genet. 2008 ;9(2):152-6.
2007
D Hallman M, Boerwinkle E, Gonzalez VH, Klein BEK, Klein R, Hanis CL. A genome-wide linkage scan for diabetic retinopathy susceptibility genes in Mexican Americans with type 2 diabetes from Starr County, Texas. Diabetes. 2007 ;56(4):1167-73.
Detera-Wadleigh SD, Liu C-yu, Maheshwari M, Cardona I, Corona W, Akula N, Steele CJM, Badner JA, Kundu M, Kassem L, Potash JB, Gibbs R, Gershon ES, McMahon FJ. Sequence variation in DOCK9 and heterogeneity in bipolar disorder. Psychiatr Genet. 2007 ;17(5):274-86.
1990
Burger H, Belman AL, Grimson R, Kaell A, Flaherty K, Gulla J, Gibbs RA, Nguyun PN, Weiser B. Long HIV-1 incubation periods and dynamics of transmission within a family. Lancet. 1990 ;336(8708):134-6.