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Publications indexed to the term Sequence Analysis, DNA

FacultyTitle
1Sequencing and analysis of globally obtained human parainfluenza viruses 1 and 3 genomes. (Bose ME, Shrivastava S, He J, Nelson MI, Bera J, Fedorova N, Halpin R, Town CD, Lorenzi HA, Amedeo P, Gupta N, Noyola DE, Videla C, Kok T, Buys A, Venter M, Vabret A, Cordey S, Henrickson KJ) PLoS One 2019;14(7):e0220057       2 Citations
3Library Preparation for Multiplexed Reduced Representation Bisulfite Sequencing with a Universal Adapter. (Liu Y, Kriegel AJ, Liang M) Methods Mol Biol 2019;2018:177-194    
2Longitudinal changes in the gut microbiome of infants on total parenteral nutrition. (Dahlgren AF, Pan A, Lam V, Gouthro KC, Simpson PM, Salzman NH, Nghiem-Rao TH) Pediatr Res 2019 07;86(1):107-114       5 Citations
1Recipients Receiving Better HLA-Matched Hematopoietic Cell Transplantation Grafts, Uncovered by a Novel HLA Typing Method, Have Superior Survival: A Retrospective Study. (Mayor NP, Hayhurst JD, Turner TR, Szydlo RM, Shaw BE, Bultitude WP, Sayno JR, Tavarozzi F, Latham K, Anthias C, Robinson J, Braund H, Danby R, Perry J, Wilson MC, Bloor AJ, McQuaker IG, MacKinnon S, Marks DI, Pagliuca A, Potter MN, Potter VT, Russell NH, Thomson KJ, Madrigal JA, Marsh SGE) Biol Blood Marrow Transplant 2019 03;25(3):443-450       29 Citations
1Prioritizing Crohn's disease genes by integrating association signals with gene expression implicates monocyte subsets. (Gettler K, Giri M, Kenigsberg E, Martin J, Chuang LS, Hsu NY, Denson LA, Hyams JS, Griffiths A, Noe JD, Crandall WV, Mack DR, Kellermayer R, Abraham C, Hoffman G, Kugathasan S, Cho JH) Genes Immun 2019 09;20(7):577-588       3 Citations
2Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome. (Zwifelhofer NMJ, Bercovitz RS, Weik LA, Moroi A, LaRose S, Newman PJ, Newman DK) J Thromb Haemost 2019 02;17(2):295-305       2 Citations
2Genetic variations in human papillomavirus and cervical cancer outcomes. (Rader JS, Tsaih SW, Fullin D, Murray MW, Iden M, Zimmermann MT, Flister MJ) Int J Cancer 2019 05 01;144(9):2206-2214       4 Citations
1Use of Genetic Testing for Primary Immunodeficiency Patients. (Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Tan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Blessing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS) J Clin Immunol 2018 04;38(3):320-329       28 Citations
4A comprehensive evaluation of alignment software for reduced representation bisulfite sequencing data. (Sun X, Han Y, Zhou L, Chen E, Lu B, Liu Y, Pan X, Cowley AW Jr, Liang M, Wu Q, Lu Y, Liu P) Bioinformatics 2018 08 15;34(16):2715-2723       5 Citations
1Novel autosomal dominant TNNT1 mutation causing nemaline myopathy. (Konersman CG, Freyermuth F, Winder TL, Lawlor MW, Lagier-Tourenne C, Patel SB) Mol Genet Genomic Med 2017 11;5(6):678-691       7 Citations
2Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. (Guo T, Repetto GM, McDonald McGinn DM, Chung JH, Nomaru H, Campbell CL, Blonska A, Bassett AS, Chow EWC, Mlynarski EE, Swillen A, Vermeesch J, Devriendt K, Gothelf D, Carmel M, Michaelovsky E, Schneider M, Eliez S, Antonarakis SE, Coleman K, Tomita-Mitchell A, Mitchell ME, Digilio MC, Dallapiccola B, Marino B, Philip N, Busa T, Kushan-Wells L, Bearden CE, Piotrowicz M, Hawuła W, Roberts AE, Tassone F, Simon TJ, van Duin EDA, van Amelsvoort TA, Kates WR, Zackai E, Johnston HR, Cutler DJ, Agopian AJ, Goldmuntz E, Mitchell LE, Wang T, Emanuel BS, Morrow BE, International 22q11.2 Consortium/Brain and Behavior Consortium*) Circ Cardiovasc Genet 2017 Oct;10(5)    
3Elevation of fumarase attenuates hypertension and can result from a nonsynonymous sequence variation or increased expression depending on rat strain. (Usa K, Liu Y, Geurts AM, Cheng Y, Lazar J, Baker MA, Grzybowski M, He Y, Tian Z, Liang M) Physiol Genomics 2017 Sep 01;49(9):496-504       8 Citations
1Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree. (Hendee K, Wang LW, Reis LM, Rice GM, Apte SS, Semina EV) Hum Mutat 2017 11;38(11):1485-1490       7 Citations
1The effect of a genetic variant on quantitative real-time PCR in a case of disseminated adenovirus infection. (Gniadek TJ, Forman MT, Martin I, Arav-Boger R, Valsamakis A) Diagn Microbiol Infect Dis 2017 Sep;89(1):40-43       2 Citations
1Clinical Manifestations of Punta Toro Virus Species Complex Infections, Panama, 2009. (Gundacker ND, Carrera JP, Castillo M, Díaz Y, Valenzuela J, Tamhane A, Moreno B, Pascale JM, Tesh RB, López-Vergès S) Emerg Infect Dis 2017 05;23(5):872-874       6 Citations
1annoPeak: a web application to annotate and visualize peaks from ChIP-seq/ChIP-exo-seq. (Tang X, Srivastava A, Liu H, Machiraju R, Huang K, Leone G) Bioinformatics 2017 May 15;33(10):1570-1571       1 Citation
1Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. (Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, Lubbe SJ, Drouet V, Lesage S, Majounie E, Gibbs JR, Nalls MA, Ryten M, Botia JA, Vandrovcova J, Simon-Sanchez J, Castillo-Lizardo M, Rizzu P, Blauwendraat C, Chouhan AK, Li Y, Yogi P, Amin N, van Duijn CM, International Parkinson’s Disease Genetics Consortium (IPGDC), Morris HR, Brice A, Singleton AB, David DC, Nollen EA, Jain S, Shulman JM, Heutink P) Genome Biol 2017 01 30;18(1):22       40 Citations
1The Gut Microbiome of the Vector Lutzomyia longipalpis Is Essential for Survival of Leishmania infantum. (Kelly PH, Bahr SM, Serafim TD, Ajami NJ, Petrosino JF, Meneses C, Kirby JR, Valenzuela JG, Kamhawi S, Wilson ME) mBio 2017 01 17;8(1)       48 Citations
3How Doctors Think: Common Diagnostic Errors in Clinical Judgment-Lessons from an Undiagnosed and Rare Disease Program. (Kliegman RM, Bordini BJ, Basel D, Nocton JJ) Pediatr Clin North Am 2017 Feb;64(1):1-15       5 Citations
1Delayed diagnosis of MYH-9–related disorder and the role of light microscopy in congenital macrothrombocytopenias. (Perez Botero J, Patnaik MM) Blood 2016 Apr 14;127(15):1940       3 Citations
1Candida dubliniensis Pneumonia: A Case Report and Review of Literature. (Petty LA, Gallan AJ, Detrick JA, Ridgway JP, Mueller J, Pisano J) Mycopathologia 2016 Oct;181(9-10):765-8       4 Citations
2Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. (Reis LM, Tyler RC, Weh E, Hendee KE, Schilter KF, Phillips JA 3rd, Sequeira S, Schinzel A, Semina EV) Clin Genet 2016 10;90(4):378-82       5 Citations
1A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. (Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E) Blood 2016 06 09;127(23):2791-803       102 Citations
1New Delhi Metallo-β-Lactamase-1-Producing Klebsiella pneumoniae, Florida, USA(1). (Li JJ, Munoz-Price LS, Spychala CN, DePascale D, Doi Y) Emerg Infect Dis 2016 Apr;22(4):744-6       10 Citations
5Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States. (Flood VH, Christopherson PA, Gill JC, Friedman KD, Haberichter SL, Bellissimo DB, Udani RA, Dasgupta M, Hoffmann RG, Ragni MV, Shapiro AD, Lusher JM, Lentz SR, Abshire TC, Leissinger C, Hoots WK, Manco-Johnson MJ, Gruppo RA, Boggio LN, Montgomery KT, Goodeve AC, James PD, Lillicrap D, Peake IR, Montgomery RR) Blood 2016 05 19;127(20):2481-8       47 Citations
1Evolution of GOUNDRY, a cryptic subgroup of Anopheles gambiae s.l., and its impact on susceptibility to Plasmodium infection. (Crawford JE, Riehle MM, Markianos K, Bischoff E, Guelbeogo WM, Gneme A, Sagnon N, Vernick KD, Nielsen R, Lazzaro BP) Mol Ecol 2016 Apr;25(7):1494-510       5 Citations
1Detection of an Abnormal Myeloid Clone by Flow Cytometry in Familial Platelet Disorder With Propensity to Myeloid Malignancy. (Ok CY, Leventaki V, Wang SA, Dinardo C, Medeiros LJ, Konoplev S) Am J Clin Pathol 2016 Feb;145(2):271-6       9 Citations
1Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project. (Pratt VM, Everts RE, Aggarwal P, Beyer BN, Broeckel U, Epstein-Baak R, Hujsak P, Kornreich R, Liao J, Lorier R, Scott SA, Smith CH, Toji LH, Turner A, Kalman LV) J Mol Diagn 2016 Jan;18(1):109-23       42 Citations
1Reticulate Speciation and Barriers to Introgression in the Anopheles gambiae Species Complex. (Crawford JE, Riehle MM, Guelbeogo WM, Gneme A, Sagnon N, Vernick KD, Nielsen R, Lazzaro BP) Genome Biol Evol 2015 Nov 28;7(11):3116-31       17 Citations
1Polymorphism in TGFB1 is associated with worse non-relapse mortality and overall survival after stem cell transplantation with unrelated donors. (Arrieta-Bolaños E, Mayor NP, Marsh SG, Madrigal JA, Apperley JF, Kirkland K, Mackinnon S, Marks DI, McQuaker G, Perry J, Potter MN, Russell NH, Thomson K, Shaw BE) Haematologica 2016 Mar;101(3):382-90       3 Citations
5Pappa2 is linked to salt-sensitive hypertension in Dahl S rats. (Cowley AW Jr, Yang C, Kumar V, Lazar J, Jacob H, Geurts AM, Liu P, Dayton A, Kurth T, Liang M) Physiol Genomics 2016 Jan;48(1):62-72       17 Citations
1Gut Microbial Dysbiosis Due to Helicobacter Drives an Increase in Marginal Zone B Cells in the Absence of IL-10 Signaling in Macrophages. (Ray A, Basu S, Gharaibeh RZ, Cook LC, Kumar R, Lefkowitz EJ, Walker CR, Morrow CD, Franklin CL, Geiger TL, Salzman NH, Fodor A, Dittel BN) J Immunol 2015 Oct 01;195(7):3071-85       16 Citations
1Limited Variation in BK Virus T-Cell Epitopes Revealed by Next-Generation Sequencing. (Sahoo MK, Tan SK, Chen SF, Kapusinszky B, Concepcion KR, Kjelson L, Mallempati K, Farina HM, Fernández-Viña M, Tyan D, Grimm PC, Anderson MW, Concepcion W, Pinsky BA) J Clin Microbiol 2015 Oct;53(10):3226-33       9 Citations
1Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. (Alamillo CL, Powis Z, Farwell K, Shahmirzadi L, Weltmer EC, Turocy J, Lowe T, Kobelka C, Chen E, Basel D, Ashkinadze E, D'Augelli L, Chao E, Tang S) Prenat Diagn 2015 Nov;35(11):1073-8       46 Citations
1Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction. (Theis JL, Zimmermann MT, Evans JM, Eckloff BW, Wieben ED, Qureshi MY, O'Leary PW, Olson TM) Circ Cardiovasc Genet 2015 Aug;8(4):564-71       25 Citations
1Xenorhabdus bovienii Strain Diversity Impacts Coevolution and Symbiotic Maintenance with Steinernema spp. Nematode Hosts. (Murfin KE, Lee MM, Klassen JL, McDonald BR, Larget B, Forst S, Stock SP, Currie CR, Goodrich-Blair H) mBio 2015 Jun 04;6(3):e00076       32 Citations
1Very high resolution single pass HLA genotyping using amplicon sequencing on the 454 next generation DNA sequencers: Comparison with Sanger sequencing. (Yamamoto F, Höglund B, Fernandez-Vina M, Tyan D, Rastrou M, Williams T, Moonsamy P, Goodridge D, Anderson M, Erlich HA, Holcomb CL) Hum Immunol 2015 Dec;76(12):910-6       5 Citations
2Plasma genetic and genomic abnormalities predict treatment response and clinical outcome in advanced prostate cancer. (Xia S, Kohli M, Du M, Dittmar RL, Lee A, Nandy D, Yuan T, Guo Y, Wang Y, Tschannen MR, Worthey E, Jacob H, See W, Kilari D, Wang X, Hovey RL, Huang CC, Wang L) Oncotarget 2015 Jun 30;6(18):16411-21       34 Citations
1Novel alleles of the transforming growth factor β-1 regulatory region and exon 1. (Arrieta-Bolaños E, Madrigal JA, Shaw BE) Tissue Antigens 2015 Jun;85(6):484-91       1 Citation
1Diversity of human papillomavirus in the anal canal of men: the HIM Study. (Sichero L, Nyitray AG, Nunes EM, Nepal B, Ferreira S, Sobrinho JS, Baggio ML, Galan L, Silva RC, Lazcano-Ponce E, Giuliano AR, Villa LL, HIM Study Group) Clin Microbiol Infect 2015 May;21(5):502-9       13 Citations
3A recurrent mutation in PARK2 is associated with familial lung cancer. (Xiong D, Wang Y, Kupert E, Simpson C, Pinney SM, Gaba CR, Mandal D, Schwartz AG, Yang P, de Andrade M, Pikielny C, Byun J, Li Y, Stambolian D, Spitz MR, Liu Y, Amos CI, Bailey-Wilson JE, Anderson M, You M) Am J Hum Genet 2015 Feb 05;96(2):301-8       36 Citations
2Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice. (Park AK, Liegel RP, Ronchetti A, Ebert AD, Geurts A, Sidjanin DJ) BMC Genet 2014 Dec 05;15:135       12 Citations
2Shroom3 contributes to the maintenance of the glomerular filtration barrier integrity. (Yeo NC, O'Meara CC, Bonomo JA, Veth KN, Tomar R, Flister MJ, Drummond IA, Bowden DW, Freedman BI, Lazar J, Link BA, Jacob HJ) Genome Res 2015 Jan;25(1):57-65       30 Citations
1MACE: model based analysis of ChIP-exo. (Wang L, Chen J, Wang C, Uusküla-Reimand L, Chen K, Medina-Rivera A, Young EJ, Zimmermann MT, Yan H, Sun Z, Zhang Y, Wu ST, Huang H, Wilson MD, Kocher JP, Li W) Nucleic Acids Res 2014 Nov 10;42(20):e156       42 Citations
1Genome analysis of a major urban malaria vector mosquito, Anopheles stephensi. (Jiang X, Peery A, Hall AB, Sharma A, Chen XG, Waterhouse RM, Komissarov A, Riehle MM, Shouche Y, Sharakhova MV, Lawson D, Pakpour N, Arensburger P, Davidson VL, Eiglmeier K, Emrich S, George P, Kennedy RC, Mane SP, Maslen G, Oringanje C, Qi Y, Settlage R, Tojo M, Tubio JM, Unger MF, Wang B, Vernick KD, Ribeiro JM, James AA, Michel K, Riehle MA, Luckhart S, Sharakhov IV, Tu Z) Genome Biol 2014 Sep 23;15(9):459       58 Citations
2Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome. (Du M, Yuan T, Schilter KF, Dittmar RL, Mackinnon A, Huang X, Tschannen M, Worthey E, Jacob H, Xia S, Gao J, Tillmans L, Lu Y, Liu P, Thibodeau SN, Wang L) Hum Mol Genet 2015 Jan 01;24(1):154-66       33 Citations
1Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. (Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J, University of Washington Center for Mendelian Genomics, Care4Rare Canada, Parboosingh JS, Innes AM, Doherty D) Am J Hum Genet 2014 Aug 07;95(2):227-34       51 Citations
1Clinical implementation of whole genome sequencing a valuable step toward personalized care. (Kerschner JE) WMJ 2013 Oct;112(5):224-5    
5Characterization of biological pathways associated with a 1.37 Mbp genomic region protective of hypertension in Dahl S rats. (Cowley AW Jr, Moreno C, Jacob HJ, Peterson CB, Stingo FC, Ahn KW, Liu P, Vannucci M, Laud PW, Reddy P, Lazar J, Evans L, Yang C, Kurth T, Liang M) Physiol Genomics 2014 Jun 01;46(11):398-410       16 Citations
1An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. (Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM) Genome Biol 2014 Mar 25;15(3):R53       66 Citations
1Views of primary care providers regarding the return of genome sequencing incidental findings. (Strong KA, Zusevics KL, Bick D, Veith R) Clin Genet 2014 Nov;86(5):461-8       22 Citations
1QChIPat: a quantitative method to identify distinct binding patterns for two biological ChIP-seq samples in different experimental conditions. (Liu B, Yi J, Sv A, Lan X, Ma Y, Huang TH, Leone G, Jin VX) BMC Genomics 2013;14 Suppl 8:S3       18 Citations
1Early-onset stroke and vasculopathy associated with mutations in ADA2. (Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I) N Engl J Med 2014 Mar 06;370(10):911-20       315 Citations
1Irritable bowel syndrome may be associated with maternal inheritance and mitochondrial DNA control region sequence variants. (van Tilburg MA, Zaki EA, Venkatesan T, Boles RG) Dig Dis Sci 2014 Jul;59(7):1392-7       6 Citations
1Genotyping of Borrelia from formalin-fixed paraffin-embedded skin biopsies of cutaneous borreliosis and tick bite reactions by assays targeting the intergenic spacer region, ospA and ospC genes. (Brandt FC, Ertas B, Falk TM, Metze D, Böer-Auer A) Br J Dermatol 2014 Sep;171(3):528-43       13 Citations
2Comparison of MALDI-TOF MS with HPLC and nucleic acid sequencing for the identification of Mycobacterium species in cultures using solid medium and broth. (Buchan BW, Riebe KM, Timke M, Kostrzewa M, Ledeboer NA) Am J Clin Pathol 2014 Jan;141(1):25-34       42 Citations
1Black raspberries protectively regulate methylation of Wnt pathway genes in precancerous colon tissue. (Wang LS, Kuo CT, Huang TH, Yearsley M, Oshima K, Stoner GD, Yu J, Lechner JF, Huang YW) Cancer Prev Res (Phila) 2013 Dec;6(12):1317-27       29 Citations
1DrGaP: a powerful tool for identifying driver genes and pathways in cancer sequencing studies. (Hua X, Xu H, Yang Y, Zhu J, Liu P, Lu Y) Am J Hum Genet 2013 Sep 05;93(3):439-51       40 Citations
1A graph-theoretical approach to the selection of the minimum tiling path from a physical map. (Bozdag S, Close TJ, Lonardi S) IEEE/ACM Trans Comput Biol Bioinform 2013 Mar-Apr;10(2):352-60       5 Citations
3Genomics in clinical practice: lessons from the front lines. (Jacob HJ, Abrams K, Bick DP, Brodie K, Dimmock DP, Farrell M, Geurts J, Harris J, Helbling D, Joers BJ, Kliegman R, Kowalski G, Lazar J, Margolis DA, North P, Northup J, Roquemore-Goins A, Scharer G, Shimoyama M, Strong K, Taylor B, Tsaih SW, Tschannen MR, Veith RL, Wendt-Andrae J, Wilk B, Worthey EA) Sci Transl Med 2013 Jul 17;5(194):194cm5       67 Citations
1Variant discovery in targeted resequencing using whole genome amplified DNA. (Indap AR, Cole R, Runge CL, Marth GT, Olivier M) BMC Genomics 2013 Jul 10;14:468       4 Citations
1Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. (Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J) N Engl J Med 2013 May 23;368(21):1971-9    
1Combinatorial pooling enables selective sequencing of the barley gene space. (Lonardi S, Duma D, Alpert M, Cordero F, Beccuti M, Bhat PR, Wu Y, Ciardo G, Alsaihati B, Ma Y, Wanamaker S, Resnik J, Bozdag S, Luo MC, Close TJ) PLoS Comput Biol 2013 Apr;9(4):e1003010       14 Citations
1Inference of identity by descent in population isolates and optimal sequencing studies. (Glodzik D, Navarro P, Vitart V, Hayward C, McQuillan R, Wild SH, Dunlop MG, Rudan I, Campbell H, Haley C, Wright AF, Wilson JF, McKeigue P) Eur J Hum Genet 2013 Oct;21(10):1140-5       12 Citations
1Evolution of the Stx2-encoding prophage in persistent bovine Escherichia coli O157:H7 strains. (Park D, Stanton E, Ciezki K, Parrell D, Bozile M, Pike D, Forst SA, Jeong KC, Ivanek R, Döpfer D, Kaspar CW) Appl Environ Microbiol 2013 Mar;79(5):1563-72       17 Citations
1The genetic landscape of mutations in Burkitt lymphoma. (Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WW, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS) Nat Genet 2012 Dec;44(12):1321-5       330 Citations
1Cross-reactive responses to modified M1₅₈-₆₆ peptides by CD8⁺ T cells that use noncanonical BV genes can describe unknown repertoires. (Petrova GV, Gorski J) Eur J Immunol 2012 Nov;42(11):3001-8       5 Citations
1Paramecium bursaria chlorella virus 1 proteome reveals novel architectural and regulatory features of a giant virus. (Dunigan DD, Cerny RL, Bauman AT, Roach JC, Lane LC, Agarkova IV, Wulser K, Yanai-Balser GM, Gurnon JR, Vitek JC, Kronschnabel BJ, Jeanniard A, Blanc G, Upton C, Duncan GA, McClung OW, Ma F, Van Etten JL) J Virol 2012 Aug;86(16):8821-34       39 Citations
3Increased expression of NAD(P)H oxidase subunit p67(phox) in the renal medulla contributes to excess oxidative stress and salt-sensitive hypertension. (Feng D, Yang C, Geurts AM, Kurth T, Liang M, Lazar J, Mattson DL, O'Connor PM, Cowley AW Jr) Cell Metab 2012 Feb 08;15(2):201-8       92 Citations
1The entomopathogenic bacterial endosymbionts Xenorhabdus and Photorhabdus: convergent lifestyles from divergent genomes. (Chaston JM, Suen G, Tucker SL, Andersen AW, Bhasin A, Bode E, Bode HB, Brachmann AO, Cowles CE, Cowles KN, Darby C, de Léon L, Drace K, Du Z, Givaudan A, Herbert Tran EE, Jewell KA, Knack JJ, Krasomil-Osterfeld KC, Kukor R, Lanois A, Latreille P, Leimgruber NK, Lipke CM, Liu R, Lu X, Martens EC, Marri PR, Médigue C, Menard ML, Miller NM, Morales-Soto N, Norton S, Ogier JC, Orchard SS, Park D, Park Y, Qurollo BA, Sugar DR, Richards GR, Rouy Z, Slominski B, Slominski K, Snyder H, Tjaden BC, van der Hoeven R, Welch RD, Wheeler C, Xiang B, Barbazuk B, Gaudriault S, Goodner B, Slater SC, Forst S, Goldman BS, Goodrich-Blair H) PLoS One 2011;6(11):e27909       103 Citations
1A point mutation in the EGF-4 domain of β(3) integrin is responsible for the formation of the Sec(a) platelet alloantigen and affects receptor function. (Sachs UJ, Bakchoul T, Eva O, Giptner A, Bein G, Aster RH, Gitter M, Peterson J, Santoso S) Thromb Haemost 2012 Jan;107(1):80-7       10 Citations
1Maternal topoisomerase II alpha, not topoisomerase II beta, enables embryonic development of zebrafish top2a-/- mutants. (Sapetto-Rebow B, McLoughlin SC, O'Shea LC, O'Leary O, Willer JR, Alvarez Y, Collery R, O'Sullivan J, Van Eeden F, Hensey C, Kennedy BN) BMC Dev Biol 2011 Nov 23;11:71       9 Citations
1Genetic features of CTX-M-15-producing Acinetobacter baumannii from Haiti. (Potron A, Munoz-Price LS, Nordmann P, Cleary T, Poirel L) Antimicrob Agents Chemother 2011 Dec;55(12):5946-8       24 Citations
1Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. (Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM, Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola J) Nat Genet 2011 Jul 17;43(8):738-40    
1Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity. (Yoshimitsu M, Higuchi K, Miyata M, Devine S, Mattman A, Sirrs S, Medin JA, Tei C, Takenaka T) J Cardiol 2011 May;57(3):345-53       9 Citations
1A multi-site study using high-resolution HLA genotyping by next generation sequencing. (Holcomb CL, Höglund B, Anderson MW, Blake LA, Böhme I, Egholm M, Ferriola D, Gabriel C, Gelber SE, Goodridge D, Hawbecker S, Klein R, Ladner M, Lind C, Monos D, Pando MJ, Pröll J, Sayer DC, Schmitz-Agheguian G, Simen BB, Thiele B, Trachtenberg EA, Tyan DB, Wassmuth R, White S, Erlich HA) Tissue Antigens 2011 Mar;77(3):206-17       91 Citations
1Detection of a single identical cytomegalovirus (CMV) strain in recently seroconverted young women. (Murthy S, Hayward GS, Wheelan S, Forman MS, Ahn JH, Pass RF, Arav-Boger R) PLoS One 2011 Jan 10;6(1):e15949       16 Citations
1Hb S-β-thalassemia: molecular, hematological and clinical comparisons. (Serjeant GR, Serjeant BE, Fraser RA, Hambleton IR, Higgs DR, Kulozik AE, Donaldson A) Hemoglobin 2011;35(1):1-12       20 Citations
6Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. (Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP) Genet Med 2011 Mar;13(3):255-62       502 Citations
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1Phylogeography of the spring and fall waves of the H1N1/09 pandemic influenza virus in the United States. (Nelson MI, Tan Y, Ghedin E, Wentworth DE, St George K, Edelman L, Beck ET, Fan J, Lam TT, Kumar S, Spiro DJ, Simonsen L, Viboud C, Holmes EC, Henrickson KJ, Musser JM) J Virol 2011 Jan;85(2):828-34       45 Citations
1A novel HLA-DPB1 allele, DPB1*125:01, identified by sequence-based typing in an Indian individual. (Kanga U, McWhinnie AJ, Mourya M, Shaw BE, Madrigal JA, Mehra NK) Tissue Antigens 2011 Jan;77(1):85-7       3 Citations
1Color-deficient cone mosaics associated with Xq28 opsin mutations: a stop codon versus gene deletions. (Wagner-Schuman M, Neitz J, Rha J, Williams DR, Neitz M, Carroll J) Vision Res 2010 Nov 23;50(23):2396-402       18 Citations
1Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic. (Carroll J, Rossi EA, Porter J, Neitz J, Roorda A, Williams DR, Neitz M) Vision Res 2010 Sep 15;50(19):1989-99       31 Citations
1Extending the chinchilla middle ear epithelial model for mucin gene investigation. (Kerschner JE, Khampang P, Samuels T) Int J Pediatr Otorhinolaryngol 2010 Sep;74(9):980-5       7 Citations
1An oleate-stimulated, phosphatidylinositol 4,5-bisphosphate-independent phospholipase D in Schizosaccharomyces pombe. (Harkins AL, Yuan G, London SD, Dolan JW) FEMS Yeast Res 2010 Sep;10(6):717-26       4 Citations
1FastMEDUSA: a parallelized tool to infer gene regulatory networks. (Bozdag S, Li A, Wuchty S, Fine HA) Bioinformatics 2010 Jul 15;26(14):1792-3       15 Citations
1Persistence of adenovirus nucleic acids in nasopharyngeal secretions: a diagnostic conundrum. (Kalu SU, Loeffelholz M, Beck E, Patel JA, Revai K, Fan J, Henrickson KJ, Chonmaitree T) Pediatr Infect Dis J 2010 Aug;29(8):746-50       52 Citations
1Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. (Urban Z, Hucthagowder V, Schürmann N, Todorovic V, Zilberberg L, Choi J, Sens C, Brown CW, Clark RD, Holland KE, Marble M, Sakai LY, Dabovic B, Rifkin DB, Davis EC) Am J Hum Genet 2009 Nov;85(5):593-605       82 Citations
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4An autoinflammatory disease due to homozygous deletion of the IL1RN locus. (Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U, Hessner MJ, Verbsky J) N Engl J Med 2009 Jun 04;360(23):2438-44       274 Citations
1Normality of colour vision in a compound heterozygous female carrying protan and deutan defects. (Tait DM, Carroll J) Clin Exp Optom 2009 Jul;92(4):356-61       2 Citations
2Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer. (Liu P, Vikis HG, Wang D, Lu Y, Wang Y, Schwartz AG, Pinney SM, Yang P, de Andrade M, Petersen GM, Wiest JS, Fain PR, Gazdar A, Gaba C, Rothschild H, Mandal D, Coons T, Lee J, Kupert E, Seminara D, Minna J, Bailey-Wilson JE, Wu X, Spitz MR, Eisen T, Houlston RS, Amos CI, Anderson MW, You M) J Natl Cancer Inst 2008 Sep 17;100(18):1326-30       113 Citations
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1mtDNA nt13708A variant increases the risk of multiple sclerosis. (Yu X, Koczan D, Sulonen AM, Akkad DA, Kroner A, Comabella M, Costa G, Corongiu D, Goertsches R, Camina-Tato M, Thiesen HJ, Nyland HI, Mørk SJ, Montalban X, Rieckmann P, Marrosu MG, Myhr KM, Epplen JT, Saarela J, Ibrahim SM) PLoS One 2008 Feb 13;3(2):e1530       51 Citations
1Analysis of the evolutionary forces in an immunodominant CD8 epitope in hepatitis C virus at a population level. (Neumann-Haefelin C, Frick DN, Wang JJ, Pybus OG, Salloum S, Narula GS, Eckart A, Biezynski A, Eiermann T, Klenerman P, Viazov S, Roggendorf M, Thimme R, Reiser M, Timm J) J Virol 2008 Apr;82(7):3438-51       49 Citations
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1Flavobacterium johnsoniae SprA is a cell surface protein involved in gliding motility. (Nelson SS, Glocka PP, Agarwal S, Grimm DP, McBride MJ) J Bacteriol 2007 Oct;189(19):7145-50       30 Citations
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1A novel approach for high-quality microarray processing using third-dye array visualization technology. (Wang X, Jiang N, Feng X, Xie Y, Tonellato PJ, Ghosh S, Hessner MJ) IEEE Trans Nanobioscience 2003 Dec;2(4):193-201       15 Citations
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1Unique organization and regulation of the mrx fimbrial operon in Xenorhabdus nematophila. (He H, Snyder HA, Forst S) Microbiology (Reading) 2004 May;150(Pt 5):1439-1446       15 Citations
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1Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Rieger's syndrome. (Trembath DG, Semina EV, Jones DH, Patil SR, Qian Q, Amendt BA, Russo AF, Murray JC) Birth Defects Res A Clin Mol Teratol 2004 Feb;70(2):82-91       16 Citations
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1COMBO-FISH: specific labeling of nondenatured chromatin targets by computer-selected DNA oligonucleotide probe combinations. (Hausmann M, Winkler R, Hildenbrand G, Finsterle J, Weisel A, Rapp A, Schmitt E, Janz S, Cremer C) Biotechniques 2003 Sep;35(3):564-70, 572-7       43 Citations
1Expression of human herpesvirus 8 in primary pulmonary hypertension. (Cool CD, Rai PR, Yeager ME, Hernandez-Saavedra D, Serls AE, Bull TM, Geraci MW, Brown KK, Routes JM, Tuder RM, Voelkel NF) N Engl J Med 2003 Sep 18;349(12):1113-22       235 Citations
1Radiation hybrid mapping and genomic organization of canine TBX2 and TBX4. (Andelfinger G, Etter L, Dyment M, Hitte C, Galibert F, Kirkness E, Benson DW) Anim Genet 2003 Aug;34(4):307-9       4 Citations
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1Transgenic rabbits expressing mutant essential light chain do not develop hypertrophic cardiomyopathy. (James J, Zhang Y, Wright K, Witt S, Glascock E, Osinska H, Klevitsky R, Martin L, Yager K, Sanbe A, Robbins J) J Mol Cell Cardiol 2002 Jul;34(7):873-82       20 Citations
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1Expression of human smooth muscle calponin in transgenic mice revealed with a bacterial artificial chromosome. (Miano JM, Kitchen CM, Chen J, Maltby KM, Kelly LA, Weiler H, Krahe R, Ashworth LK, Garcia E) Am J Physiol Heart Circ Physiol 2002 May;282(5):H1793-803       12 Citations
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1Comparison of cytomegalovirus (CMV) UL97 gene sequences in the blood and vitreous of patients with acquired immunodeficiency syndrome and CMV retinitis. (Hu H, Jabs DA, Forman MS, Martin BK, Dunn JP, Weinberg DV, Davis JL, Cytomegalovirus Retinitis and Viral Resistance Study Group) J Infect Dis 2002 Apr 01;185(7):861-7       41 Citations
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1The 75-kilodalton antigen of Bartonella bacilliformis is a structural homolog of the cell division protein FtsZ. (Padmalayam I, Anderson B, Kron M, Kelly T, Baumstark B) J Bacteriol 1997 Jul;179(14):4545-52       20 Citations
2E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (Kirby-Keyser L, Porter CC, Donohoue PA) Hum Mutat 1997;9(2):181-2       12 Citations
1Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus. (Semina EV, Datson NA, Leysens NJ, Zabel BU, Carey JC, Bell GI, Bitoun P, Lindgren C, Stevenson T, Frants RR, van Ommen G, Murray JC) Am J Hum Genet 1996 Dec;59(6):1288-96       21 Citations
1Exoenzyme S of Pseudomonas aeruginosa is secreted by a type III pathway. (Yahr TL, Goranson J, Frank DW) Mol Microbiol 1996 Dec;22(5):991-1003       228 Citations
1Phenotypic evolution of classic 21-hydroxylase deficiency. (Hoffman WH, Shin MY, Donohoue PA, Helman SW, Brown SL, Rosculet G, Mahesh VB) Clin Endocrinol (Oxf) 1996 Jul;45(1):103-9       6 Citations
2Genetic relationship between the 53- and 49-kilodalton forms of exoenzyme S from Pseudomonas aeruginosa. (Yahr TL, Barbieri JT, Frank DW) J Bacteriol 1996 Mar;178(5):1412-9       99 Citations
1Molecular analysis of the two-component genes, ompR and envZ, in the symbiotic bacterium Xenorhabdus nematophilus. (Tabatabai N, Forst S) Mol Microbiol 1995 Aug;17(4):643-52       30 Citations
1Cloning of the gene encoding rat JAK2, a protein tyrosine kinase. (Duhé RJ, Rui H, Greenwood JD, Garvey K, Farrar WL) Gene 1995 Jun 09;158(2):281-5       25 Citations
1Transcriptional analysis of the Pseudomonas aeruginosa exoenzyme S structural gene. (Yahr TL, Hovey AK, Kulich SM, Frank DW) J Bacteriol 1995 Mar;177(5):1169-78       84 Citations
1Human renin 5'-flanking DNA to nucleotide-2750. (Smith DL, Jeyapalan S, Lang JA, Guo XH, Sigmund CD, Morris BJ) DNA Seq 1995;5(5):319-21       3 Citations
1Cloning, sequence comparison and in vivo expression of the gene encoding rat P-selectin. (Auchampach JA, Oliver MG, Anderson DC, Manning AM) Gene 1994 Aug 05;145(2):251-5       35 Citations
jenkins-FCD Prod-480 9a4deaf152b0b06dd18151814fff2e18f6c05280