Publications

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Journal Article
Timms KM, Lu F, Shen Y, Pierson CA, Muzny DM, Gu Y, Nelson DL, Gibbs RA. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res. 1995 ;5(1):71-8.
Hoskins RA, Nelson CR, Berman BP, Laverty TR, George RA, Ciesiolka L, Naeemuddin M, Arenson AD, Durbin J, David RG, Tabor PE, Bailey MR, DeShazo DR, Catanese J, Mammoser A, Osoegawa K, de Jong PJ, Celniker SE, Gibbs RA, Rubin GM, Scherer SE. A BAC-based physical map of the major autosomes of Drosophila melanogaster. Science. 2000 ;287(5461):2271-4.
Liu Y, Qin X, Song X-ZHenry, Jiang H, Shen Y, K Durbin J, Lien S, Kent MPeter, Sodeland M, Ren Y, Zhang L, Sodergren E, Havlak P, Worley KC, Weinstock GM, Gibbs RA. Bos taurus genome assembly. BMC Genomics. 2009 ;10:180.
Clemens PR, Fenwick RG, Chamberlain JS, Gibbs RA, de Andrade M, Chakraborty R, Caskey CT. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet. 1991 ;49(5):951-60.
Levin ML, Chatterjee A, Pragliola A, Worley KC, Wehnert M, Zhuchenko O, Smith RF, Lee CC, Herman GE. A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28. Genome Res. 1996 ;6(6):465-77.
Andersson B, Lu F, Muzny DM, Warren ST, Gibbs RA. Complete sequence of a 38.4-kb human cosmid insert containing the polymorphic marker DXS455 from Xq28. DNA Seq. 1995 ;5(4):219-23.
Lumaka A, Race V, Peeters H, Corveleyn A, Coban-Akdemir Z, Jhangiani SN, Song X, Mubungu G, Posey J, Lupski JR, Vermeesch JR, Lukusa P, Devriendt K. A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Am J Med Genet A. 2018 ;176(9):1897-1909.
Raveendran M, Harris RA, Milosavljevic A, Johnson Z, Shelledy W, Cameron J, Rogers J. Designing new microsatellite markers for linkage and population genetic analyses in rhesus macaques and other nonhuman primates. Genomics. 2006 ;88(6):706-710.
Tcw J, Carvalho CMB, Yuan B, Gu S, Altheimer AN, McCarthy S, Malhotra D, Sebat J, Siegel AJ, Rudolph U, Lupski JR, Levy DL, Brennand KJ. Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis. Stem Cell Reports. 2017 ;8(3):519-528.
Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ER, Fraccaro M. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet. 1994 ;7(4):497-501.
Zhao J, Boerwinkle E, Xiong M. An entropy-based statistic for genomewide association studies. Am J Hum Genet. 2005 ;77(1):27-40.
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.
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.
Yoon DS, Li L, Zhang RD, Kram A, Ro JY, Johnston D, Grossman HB, Scherer S, Czerniak B. Genetic mapping and DNA sequence-based analysis of deleted regions on chromosome 16 involved in progression of bladder cancer from occult preneoplastic conditions to invasive disease. Oncogene. 2001 ;20(36):5005-14.
M Munir S, Weng L-C, Tang W, Basu S, Pankow JS, Matijevic N, Cushman M, Boerwinkle E, Folsom AR. Genetic markers associated with plasma protein C level in African Americans: the atherosclerosis risk in communities (ARIC) study. Genet Epidemiol. 2014 ;38(8):709-13.
Price AL, Patterson N, Yu F, Cox DR, Waliszewska A, McDonald GJ, Tandon A, Schirmer C, Neubauer J, Bedoya G, Duque C, Villegas A, Bortolini MCatira, Salzano FM, Gallo C, Mazzotti G, Tello-Ruiz M, Riba L, Aguilar-Salinas CA, Canizales-Quinteros S, Menjivar M, Klitz W, Henderson B, Haiman CA, Winkler C, Tusie-Luna T, Ruiz-Linares A, Reich D. A genomewide admixture map for Latino populations. Am J Hum Genet. 2007 ;80(6):1024-36.
Sabater-Lleal M, Huffman JE, de Vries PS, Marten J, Mastrangelo MA, Song C, Pankratz N, Ward-Caviness CK, Yanek LR, Trompet S, Delgado GE, Guo X, Bartz TM, Martinez-Perez A, Germain M, de Haan HG, Ozel AB, Polasek O, Smith AV, Eicher JD, Reiner AP, Tang W, Davies NM, Stott DJ, Rotter JI, Tofler GH, Boerwinkle E, de Maat MPM, Kleber ME, Welsh P, Brody JA, Chen M-H, Vaidya D, Soria JManuel, Suchon P, Vlieg Avan Hylcka, Desch KC, Kolcic I, Joshi PK, Launer LJ, Harris TB, Campbell H, Rudan I, Becker DM, Li JZ, Rivadeneira F, Uitterlinden AG, Hofman A, Franco OH, Cushman M, Psaty BM, Morange P-E, McKnight B, Chong MR, Fernandez-Cadenas I, Rosand J, Lindgren A, Gudnason V, Wilson JF, Hayward C, Ginsburg D, Fornage M, Rosendaal FR, Souto JCarlos, Becker LC, Jenny NS, Marz W, J Jukema W, Dehghan A, Trégouët D-A, Morrison AC, Johnson AD, O'Donnell CJ, Strachan DP, Lowenstein CJ, Smith NL. Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. Circulation. 2019 ;139(5):620-635.
Belmont JW, Gibbs RA. Genome-wide linkage disequilibrium and haplotype maps. Am J Pharmacogenomics. 2004 ;4(4):253-62.
Pehlivan D, Bayram Y, Gunes N, Akdemir ZCoban, Shukla A, Bierhals T, Tabakci B, Sahin Y, Gezdirici A, Fatih JM, Gulec EYilmaz, Yesil G, Punetha J, Ocak Z, Grochowski CM, Karaca E, Albayrak HMutlu, Radhakrishnan P, Erdem HBagis, Sahin I, Yildirim T, Bayhan IA, Bursali A, Elmas M, Yuksel Z, Ozdemir O, Silan F, Yildiz O, Yesilbas O, Isikay S, Balta B, Gu S, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Boerwinkle E, Gibbs RA, Tsiakas K, Hempel M, Girisha KMohan, Gul D, Posey JE, Elcioglu NH, Tuysuz B, Lupski JR. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet. 2019 ;105(1):132-150.
Bonnen PE, Wang PJ, Kimmel M, Chakraborty R, Nelson DL. Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res. 2002 ;12(12):1846-53.
Xiong M, Zhao J, Boerwinkle E. Haplotype block linkage disequilibrium mapping. Front Biosci. 2003 ;8:a85-93.
Twells RCJ, Mein CA, Phillips MS, J Hess F, Veijola R, Gilbey M, Bright M, Metzker M, Lie BA, Kingsnorth A, Gregory E, Nakagawa Y, Snook H, Wang WYS, Masters J, Johnson G, Eaves I, Howson JMM, Clayton D, Cordell HJ, Nutland S, Rance H, Carr P, Todd JA. Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene. Genome Res. 2003 ;13(5):845-55.
Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, Lupski JR, Letra A, Z Uyguner O. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet. 2018 ;137(9):689-703.
Worley KC, Towbin JA, Zhu XM, Barker DF, Ballabio A, Chamberlain J, Biesecker LG, Blethen SL, Brosnan P, Fox JE. Identification of new markers in Xp21 between DXS28 (C7) and DMD. Genomics. 1992 ;13(4):957-61.
Krzywinski M, Wallis J, Gösele C, Bosdet I, Chiu R, Graves T, Hummel O, Layman D, Mathewson C, Wye N, Zhu B, Albracht D, Asano J, Barber S, Brown-John M, Chan S, Chand S, Cloutier A, Davito J, Fjell C, Gaige T, Ganten D, Girn N, Guggenheimer K, Himmelbauer H, Kreitler T, Leach S, Lee D, Lehrach H, Mayo M, Mead K, Olson T, Pandoh P, Prabhu A-L, Shin H, Tänzer S, Thompson J, Tsai M, Walker J, Yang G, Sekhon M, Hillier LD, Zimdahl H, Marziali A, Osoegawa K, Zhao S, Siddiqui A, De Jong PJ, Warren W, Mardis E, McPherson JD, Wilson R, Hübner N, Jones S, Marra M, Schein J. Integrated and sequence-ordered BAC- and YAC-based physical maps for the rat genome. Genome Res. 2004 ;14(4):766-79.