Publications

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2016
Soens ZT, Li Y, Zhao L, Eblimit A, Dharmat R, Li Y, Chen Y, Naqeeb M, Fajardo N, Lopez I, Sun Z, Koenekoop RK, Chen R. Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med. 2016 ;18(10):1044-51.
2011
Zhou G, Gingras M-C, Liu S-H, Li D, Li Z, Catania RL, Stehling KM, Li M, Paganelli G, Gibbs RA, DeMayo FJ, Fisher WE, F Brunicardi C. The hypofunctional effect of P335L single nucleotide polymorphism on SSTR5 function. World J Surg. 2011 ;35(8):1715-24.
2019
Cunningham PN, Wang Z, Grove ML, Cooper-Dehoff RM, Beitelshees AL, Gong Y, Gums JG, Johnson JA, Turner ST, Boerwinkle E, Chapman AB. Hypertensive APOL1 risk allele carriers demonstrate greater blood pressure reduction with angiotensin receptor blockade compared to low risk carriers. PLoS One. 2019 ;14(9):e0221957.
2006
Mamun AAmar MAl, Gautam S, M Humayun Z. Hypermutagenesis in mutA cells is mediated by mistranslational corruption of polymerase, and is accompanied by replication fork collapse. Mol Microbiol. 2006 ;62(6):1752-63.
2017
Larsen PA, R Harris A, Liu Y, Murali SC, C Campbell R, Brown AD, Sullivan BA, Shelton J, Brown SJ, Raveendran M, Dudchenko O, Machol I, Durand NC, Shamim MS, Aiden ELieberman, Muzny DM, Gibbs RA, Yoder AD, Rogers J, Worley KC. Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus). BMC Biol. 2017 ;15(1):110.
2016
Huang Z, Rustagi N, Veeraraghavan N, Carroll A, Gibbs R, Boerwinkle E, Venkata MGorentla, Yu F. A hybrid computational strategy to address WGS variant analysis in >5000 samples. BMC Bioinformatics. 2016 ;17(1):361.
Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, J Hejtmancik F, Lupski JR, Posey JE, Lewis RA. Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2016 ;4(1):77-94.
2007
Harris RA, Rogers J, Milosavljevic A. Human-specific changes of genome structure detected by genomic triangulation. Science. 2007 ;316(5822):235-7.
2000
Bouck J, McLeod MP, Worley K, Gibbs RA. The human transcript database: a catalogue of full length cDNA inserts. Bioinformatics. 2000 ;16(2):176-7.
2020
Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, Guilz NC, Mukherjee M, Pezzi AE, Chmielowiec J, Tatineni S, Chinn IK, Akdemir ZCoban, Jhangiani SN, Muzny DM, Stray-Pedersen A, Bradley RE, Moody M, Connor PP, Heaps AG, Steward C, Banerjee PP, Gibbs RA, Borowiak M, Lupski JR, Jolles S, Bielinsky AK, Orange JS. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest. 2020 ;130(10):5272-5286.
2014
Zheng Y, Yu B, Alexander D, Steffen LM, Boerwinkle E. Human metabolome associates with dietary intake habits among African Americans in the atherosclerosis risk in communities study. Am J Epidemiol. 2014 ;179(12):1424-33.
2010
Rasmussen JC, Tan I-C, Marshall MV, Adams KE, Kwon S, Fife CE, Maus EA, Smith LA, Covington KR, Sevick-Muraca EM. Human Lymphatic Architecture and Dynamic Transport Imaged Using Near-infrared Fluorescence. Transl Oncol. 2010 ;3(6):362-72.
2012
Gonzaga-Jauregui C, Lupski JR, Gibbs RA. Human genome sequencing in health and disease. Annu Rev Med. 2012 ;63:35-61.
2020
Gibbs RA. The Human Genome Project changed everything. Nat Rev Genet. 2020 ;21(10):575-576.
2003
Waterston RH, Hillier LW, Fulton LA, Fulton RS, Graves TA, Pepin KH, Bork P, Suyama M, Torrents D, Chinwalla AT, Mardis ER, McPherson JD, Wilson RK. The human genome: genes, pseudogenes, and variation on chromosome 7. Cold Spring Harb Symp Quant Biol. 2003 ;68:13-22.
Gibbs RA, Nelson DL. Human genetics. Primate shadow play. Science. 2003 ;299(5611):1331-3.
2023
Wang RJ, Al-Saffar SI, Rogers J, Hahn MW. Human generation times across the past 250,000 years. Sci Adv. 2023 ;9(1):eabm7047.
1992
Edwards MC, Gibbs RA. A human dimorphism resulting from loss of an Alu. Genomics. 1992 ;14(3):590-7.
1997
Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet. 1997 ;6(9):1595-603.
2022
Laugwitz L, Seibt A, Herebian D, Peralta S, Kienzle I, Buchert R, Falb R, Gauck D, Müller A, Grimmel M, Beck-Woedel S, Kern J, Daliri K, Katibeh P, Danhauser K, Leiz S, Alesi V, Baertling F, Vasco G, Steinfeld R, Wagner M, Caglayan AOkay, Gumus H, Burmeister M, Mayatepek E, Martinelli D, Tamhankar PMohan, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Groeschel S, Krägeloh-Mann I, Haack TB, Distelmaier F. Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. J Med Genet. 2022 ;59(9):878-887.
2014
Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, Gelowani V, Hunter JV, Yesil G, Koparir E, Yilmaz S, Brown M, Briskin D, Hafner M, Morozov P, Farazi TA, Bernreuther C, Glatzel M, Trattnig S, Friske J, Kronnerwetter C, Bainbridge MN, Gezdirici A, Seven M, Muzny DM, Boerwinkle E, Ozen M, Clausen T, Tuschl T, Yuksel A, Hess A, Gibbs RA, Martinez J, Penninger JM, Lupski JR. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 ;157(3):636-50.
2015
Couturier J, Suliburk JW, Brown JM, Luke DJ, Agarwal N, Yu X, Nguyen C, Iyer D, Kozinetz CA, Overbeek PA, Metzker ML, Balasubramanyam A, Lewis DE. Human adipose tissue as a reservoir for memory CD4+ T cells and HIV. AIDS. 2015 ;29(6):667-74.
2022
Song B, Shen S, Fu S, Fu J. HSPA6 and its role in cancers and other diseases. Mol Biol Rep. 2022 ;49(11):10565-10577.
2010
Mittelman D, Sykoudis K, Hersh M, Lin Y, Wilson JH. Hsp90 modulates CAG repeat instability in human cells. Cell Stress Chaperones. 2010 ;15(5):753-9.
2003
Richards S. How is the Drosophila research community making use of the genome sequence?. Genome Biol. 2003 ;4(5):319.