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Items: 1 to 50 of 89

1.

Ultra-Sensitive TP53 Sequencing for Cancer Detection Reveals Progressive Clonal Selection in Normal Tissue over a Century of Human Lifespan.

Salk JJ, Loubet-Senear K, Maritschnegg E, Valentine CC, Williams LN, Higgins JE, Horvat R, Vanderstichele A, Nachmanson D, Baker KT, Emond MJ, Loter E, Tretiakova M, Soussi T, Loeb LA, Zeillinger R, Speiser P, Risques RA.

Cell Rep. 2019 Jul 2;28(1):132-144.e3. doi: 10.1016/j.celrep.2019.05.109.

2.

Exonic sequencing identifies TLR1 genetic variation associated with mortality in Thais with melioidosis.

Wright SW, Emond MJ, Lovelace-Macon L, Ducken D, Kashima J, Hantrakun V, Chierakul W, Teparrukkul P, Chantratita N, Limmathurotsakul D, West TE.

Emerg Microbes Infect. 2019;8(1):282-290. doi: 10.1080/22221751.2019.1575172.

3.

Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.

Mackelprang RD, Bamshad MJ, Chong JX, Hou X, Buckingham KJ, Shively K, deBruyn G, Mugo NR, Mullins JI, McElrath MJ, Baeten JM, Celum C, Emond MJ, Lingappa JR; Partners in Prevention HSV/HIV Transmission Study and the Partners PrEP Study Teams.

PLoS Pathog. 2019 Feb 11;15(2):e1007588. doi: 10.1371/journal.ppat.1007588. eCollection 2019 Feb.

4.

Mitochondrial DNA Mutations are Associated with Ulcerative Colitis Preneoplasia but Tend to be Negatively Selected in Cancer.

Baker KT, Nachmanson D, Kumar S, Emond MJ, Ussakli C, Brentnall TA, Kennedy SR, Risques RA.

Mol Cancer Res. 2019 Feb;17(2):488-498. doi: 10.1158/1541-7786.MCR-18-0520. Epub 2018 Nov 16.

PMID:
30446624
5.

Cirrhosis in Hemochromatosis: Independent Risk Factors in 368 HFE p.C282Y Homozygotes.

Barton JC, McLaren CE, Chen WP, Ramm GA, Anderson GJ, Powell LW, Subramaniam VN, Adams PC, Phatak PD, Gurrin LC, Phillips JD, Parker CJ, Emond MJ, McLaren GD.

Ann Hepatol. 2018 Aug 24;17(5):871-879. doi: 10.5604/01.3001.0012.3169.

6.

Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.

Blue E, Louie TL, Chong JX, Hebbring SJ, Barnes KC, Rafaels NM, Knowles MR, Gibson RL, Bamshad MJ, Emond MJ; U.S. National Heart, Lung, and Blood Institute “Grand Opportunity” Exome Sequencing Project (LungGO).

Ann Am Thorac Soc. 2018 Apr;15(4):440-448. doi: 10.1513/AnnalsATS.201706-451OC.

7.

Cirrhosis in Hemochromatosis: Independent Risk Factors in 368 HFE p.C282Y Homozygotes.

Barton JC, McLaren CE, Chen WP, Ramm GA, Anderson GJ, Powell LW, Subramaniam VN, Adams PC, Phatak PD, Gurrin LC, Phillips JD, Parker CJ, Emond MJ, McLaren GD.

Ann Hepatol. 2018 Sep - Oct;17(5):871-879. doi: 10.5604/01.3001.0012.3169.

8.

Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.

Mackelprang RD, Bamshad MJ, Chong JX, Hou X, Buckingham KJ, Shively K, deBruyn G, Mugo NR, Mullins JI, McElrath MJ, Baeten JM, Celum C, Emond MJ, Lingappa JR; Partners in Prevention HSV/HIV Transmission Study and the Partners PrEP Study Teams.

PLoS Pathog. 2017 Nov 6;13(11):e1006703. doi: 10.1371/journal.ppat.1006703. eCollection 2017 Nov. Erratum in: PLoS Pathog. 2019 Feb 11;15(2):e1007588.

9.

The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations.

Agrawal PB, Wang R, Li HL, Schmitz-Abe K, Simone-Roach C, Chen J, Shi J, Louie T, Sheng S, Towne MC, Brainson CF, Matthay MA, Kim CF, Bamshad M, Emond MJ, Gerard NP, Kleyman TR, Gerard C.

Am J Respir Cell Mol Biol. 2017 Dec;57(6):711-720. doi: 10.1165/rcmb.2017-0166OC.

10.

Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.

Kamath-Loeb AS, Zavala-van Rankin DG, Flores-Morales J, Emond MJ, Sidorova JM, Carnevale A, Cárdenas-Cortés MD, Norwood TH, Monnat RJ, Loeb LA, Mercado-Celis GE.

Sci Rep. 2017 Mar 9;7:44081. doi: 10.1038/srep44081.

11.

Reply.

McLaren GD, Barton JC, Ramm GA, Emond MJ, Subramaniam VN, Phatak PD, Adams PC, Powell LW, Gurrin LC, Anderson GJ, McLaren CE.

Hepatology. 2017 Mar;65(3):1072-1073. doi: 10.1002/hep.29002. Epub 2017 Feb 3. No abstract available. Erratum in: Hepatology. 2017 Jun;65(6):2136.

12.

GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes.

Barton JC, Chen WP, Emond MJ, Phatak PD, Subramaniam VN, Adams PC, Gurrin LC, Anderson GJ, Ramm GA, Powell LW, Allen KJ, Phillips JD, Parker CJ, McLaren GD, McLaren CE.

Blood Cells Mol Dis. 2017 Mar;63:15-20. doi: 10.1016/j.bcmd.2016.11.009. Epub 2016 Nov 12.

13.

TLR4 genetic variation is associated with inflammatory responses in Gram-positive sepsis.

Chantratita N, Tandhavanant S, Seal S, Wikraiphat C, Wongsuvan G, Ariyaprasert P, Suntornsut P, Teerawattanasook N, Jutrakul Y, Srisurat N, Chaimanee P, Mahavanakul W, Srisamang P, Phiphitaporn S, Mokchai M, Anukunananchai J, Wongratanacheewin S, Chetchotisakd P, Emond MJ, Peacock SJ, West TE.

Clin Microbiol Infect. 2017 Jan;23(1):47.e1-47.e10. doi: 10.1016/j.cmi.2016.08.028. Epub 2016 Sep 8.

14.

Microwell arrays reveal cellular heterogeneity during the clonal expansion of transformed human cells.

Chang TC, Tang W, Koh WJ, Rettie AJ, Emond MJ, Monnat RJ Jr, Folch A.

Technology (Singap World Sci). 2015 Dec;3(4):163-171.

15.

Ultra-deep sequencing detects ovarian cancer cells in peritoneal fluid and reveals somatic TP53 mutations in noncancerous tissues.

Krimmel JD, Schmitt MW, Harrell MI, Agnew KJ, Kennedy SR, Emond MJ, Loeb LA, Swisher EM, Risques RA.

Proc Natl Acad Sci U S A. 2016 May 24;113(21):6005-10. doi: 10.1073/pnas.1601311113. Epub 2016 May 5.

16.

Mitochondrial-targeted catalase is good for the old mouse proteome, but not for the young: 'reverse' antagonistic pleiotropy?

Basisty N, Dai DF, Gagnidze A, Gitari L, Fredrickson J, Maina Y, Beyer RP, Emond MJ, Hsieh EJ, MacCoss MJ, Martin GM, Rabinovitch PS.

Aging Cell. 2016 Aug;15(4):634-45. doi: 10.1111/acel.12472. Epub 2016 Apr 8.

17.

Reply.

McLaren CE, Barton JC, Subramaniam VN, Ramm GA, Phatak PD, Emond MJ, Gurrin LC, Adams PC, Powell LW, Anderson GJ, McLaren GD.

Hepatology. 2016 Jun;63(6):2058-60. doi: 10.1002/hep.28479. Epub 2016 Mar 15. No abstract available.

18.

Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing.

Gao L, Emond MJ, Louie T, Cheadle C, Berger AE, Rafaels N, Vergara C, Kim Y, Taub MA, Ruczinski I, Mathai SC, Rich SS, Nickerson DA, Hummers LK, Bamshad MJ, Hassoun PM, Mathias RA; National Heart, Lung, and Blood Institute GO Exome Sequencing Project, Barnes KC.

Arthritis Rheumatol. 2016 Jan;68(1):191-200. doi: 10.1002/art.39449.

19.

Reply.

McLaren CE, Barton JC, Phatak PD, Emond MJ, Subramaniam VN, Gurrin LC, Adams PC, Powell LW, Ramm GA, Anderson GJ, McLaren GD.

Hepatology. 2016 Jun;63(6):2056-7. doi: 10.1002/hep.28260. Epub 2015 Dec 18. No abstract available.

20.

Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.

Emond MJ, Louie T, Emerson J, Chong JX, Mathias RA, Knowles MR, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; NHLBI GO Exome Sequencing Project, Go L, Gibson RL, Bamshad MJ.

PLoS Genet. 2015 Aug 18;11(8):e1005424. doi: 10.1371/journal.pgen.1005424. eCollection 2015 Aug. No abstract available.

21.

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.

Emond MJ, Louie T, Emerson J, Chong JX, Mathias RA, Knowles MR, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; NHLBI GO Exome Sequencing Project, Go L, Gibson RL, Bamshad MJ.

PLoS Genet. 2015 Jun 5;11(6):e1005273. doi: 10.1371/journal.pgen.1005273. eCollection 2015 Jun. Erratum in: PLoS Genet. 2015 Aug;11(8):e1005424.

22.

Respiratory chain protein turnover rates in mice are highly heterogeneous but strikingly conserved across tissues, ages, and treatments.

Karunadharma PP, Basisty N, Chiao YA, Dai DF, Drake R, Levy N, Koh WJ, Emond MJ, Kruse S, Marcinek D, Maccoss MJ, Rabinovitch PS.

FASEB J. 2015 Aug;29(8):3582-92. doi: 10.1096/fj.15-272666. Epub 2015 May 14.

23.

Reply: To PMID 25605615.

McLaren CE, Emond MJ, Subramaniam VN, Phatak PD, Barton JC, Adams PC, Powell LW, Gurrin LC, Ramm GA, Anderson GJ, McLaren GD.

Hepatology. 2015 Dec;62(6):1918-9. doi: 10.1002/hep.27851. Epub 2015 Jun 3. No abstract available.

PMID:
25914125
24.

"Indefinite for Dysplasia" in Barrett's Esophagus: Inflammation and DNA Content Abnormality are Significant Predictors of Early Detection of Neoplasia.

Choi WT, Emond MJ, Rabinovitch PS, Ahn J, Upton MP, Westerhoff M.

Clin Transl Gastroenterol. 2015 Mar 12;6:e81. doi: 10.1038/ctg.2015.7.

25.

Accuracy of Next Generation Sequencing Platforms.

Fox EJ, Reid-Bayliss KS, Emond MJ, Loeb LA.

Next Gener Seq Appl. 2014;1. pii: 1000106.

26.

Overdiagnosis of high-grade dysplasia in Barrett's esophagus: a multicenter, international study.

Sangle NA, Taylor SL, Emond MJ, Depot M, Overholt BF, Bronner MP.

Mod Pathol. 2015 Jun;28(6):758-65. doi: 10.1038/modpathol.2015.2. Epub 2015 Feb 13.

27.

Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.

McLaren CE, Emond MJ, Subramaniam VN, Phatak PD, Barton JC, Adams PC, Goh JB, McDonald CJ, Powell LW, Gurrin LC, Allen KJ, Nickerson DA, Louie T, Ramm GA, Anderson GJ, McLaren GD.

Hepatology. 2015 Aug;62(2):429-39. doi: 10.1002/hep.27711. Epub 2015 Mar 18.

28.

Sphingosine, a modulator of human translesion DNA polymerase activity.

Kamath-Loeb AS, Balakrishna S, Whittington D, Shen JC, Emond MJ, Okabe T, Masutani C, Hanaoka F, Nishimura S, Loeb LA.

J Biol Chem. 2014 Aug 1;289(31):21663-72. doi: 10.1074/jbc.M114.570242. Epub 2014 Jun 13.

29.

CpG island methylator phenotype is associated with response to adjuvant irinotecan-based therapy for stage III colon cancer.

Shiovitz S, Bertagnolli MM, Renfro LA, Nam E, Foster NR, Dzieciatkowski S, Luo Y, Lao VV, Monnat RJ Jr, Emond MJ, Maizels N, Niedzwiecki D, Goldberg RM, Saltz LB, Venook A, Warren RS, Grady WM; Alliance for Clinical Trials in Oncology.

Gastroenterology. 2014 Sep;147(3):637-45. doi: 10.1053/j.gastro.2014.05.009. Epub 2014 May 21.

30.

Survey of innate immune responses to Burkholderia pseudomallei in human blood identifies a central role for lipopolysaccharide.

Chantratita N, Tandhavanant S, Myers ND, Seal S, Arayawichanont A, Kliangsa-Ad A, Hittle LE, Ernst RK, Emond MJ, Wurfel MM, Day NP, Peacock SJ, West TE.

PLoS One. 2013 Nov 26;8(11):e81617. doi: 10.1371/journal.pone.0081617. eCollection 2013.

31.

Screen of whole blood responses to flagellin identifies TLR5 variation associated with outcome in melioidosis.

Chantratita N, Tandhavanant S, Myers ND, Chierakul W, Robertson JD, Mahavanakul W, Singhasivanon P, Emond MJ, Peacock SJ, West TE.

Genes Immun. 2014 Mar;15(2):63-71. doi: 10.1038/gene.2013.60. Epub 2013 Nov 28.

32.

Mitochondria and tumor progression in ulcerative colitis.

Ussakli CH, Ebaee A, Binkley J, Brentnall TA, Emond MJ, Rabinovitch PS, Risques RA.

J Natl Cancer Inst. 2013 Aug 21;105(16):1239-48. doi: 10.1093/jnci/djt167. Epub 2013 Jul 12.

33.

Impaired TLR5 functionality is associated with survival in melioidosis.

West TE, Chantratita N, Chierakul W, Limmathurotsakul D, Wuthiekanun V, Myers ND, Emond MJ, Wurfel MM, Hawn TR, Peacock SJ, Skerrett SJ.

J Immunol. 2013 Apr 1;190(7):3373-9. doi: 10.4049/jimmunol.1202974. Epub 2013 Feb 27.

34.

Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies.

Lee S, Emond MJ, Bamshad MJ, Barnes KC, Rieder MJ, Nickerson DA; NHLBI GO Exome Sequencing Project—ESP Lung Project Team, Christiani DC, Wurfel MM, Lin X.

Am J Hum Genet. 2012 Aug 10;91(2):224-37. doi: 10.1016/j.ajhg.2012.06.007. Epub 2012 Aug 2.

35.

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.

Emond MJ, Louie T, Emerson J, Zhao W, Mathias RA, Knowles MR, Wright FA, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project; Lung GO, Gibson RL, Bamshad MJ.

Nat Genet. 2012 Jul 8;44(8):886-9. doi: 10.1038/ng.2344.

36.

Exome sequencing as a tool for Mendelian disease gene discovery.

Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J.

Nat Rev Genet. 2011 Sep 27;12(11):745-55. doi: 10.1038/nrg3031. Review.

PMID:
21946919
37.

Host genetic risk factors for West Nile virus infection and disease progression.

Bigham AW, Buckingham KJ, Husain S, Emond MJ, Bofferding KM, Gildersleeve H, Rutherford A, Astakhova NM, Perelygin AA, Busch MP, Murray KO, Sejvar JJ, Green S, Kriesel J, Brinton MA, Bamshad M.

PLoS One. 2011;6(9):e24745. doi: 10.1371/journal.pone.0024745. Epub 2011 Sep 15.

38.

Toll-like receptor 4 region genetic variants are associated with susceptibility to melioidosis.

West TE, Chierakul W, Chantratita N, Limmathurotsakul D, Wuthiekanun V, Emond MJ, Hawn TR, Peacock SJ, Skerrett SJ.

Genes Immun. 2012 Jan;13(1):38-46. doi: 10.1038/gene.2011.49. Epub 2011 Jul 21.

39.

Mice lacking the Cβ subunit of PKA are resistant to angiotensin II-induced cardiac hypertrophy and dysfunction.

Enns LC, Bible KL, Emond MJ, Ladiges WC.

BMC Res Notes. 2010 Nov 16;3:307. doi: 10.1186/1756-0500-3-307.

40.

Array-based comparative genomic hybridization in ulcerative colitis neoplasia: single non-dysplastic biopsies distinguish progressors from non-progressors.

Bronner MP, Skacel M, Crispin DA, Hoff PD, Emond MJ, Lai LA, Tubbs RR, O'Sullivan JN, Rabinovitch PS, Brentnall TA.

Mod Pathol. 2010 Dec;23(12):1624-33. doi: 10.1038/modpathol.2010.161. Epub 2010 Aug 27.

41.

The human WRN and BLM RecQ helicases differentially regulate cell proliferation and survival after chemotherapeutic DNA damage.

Mao FJ, Sidorova JM, Lauper JM, Emond MJ, Monnat RJ.

Cancer Res. 2010 Aug 15;70(16):6548-55. doi: 10.1158/0008-5472.CAN-10-0475. Epub 2010 Jul 27.

42.

Age-dependent cardiomyopathy in mitochondrial mutator mice is attenuated by overexpression of catalase targeted to mitochondria.

Dai DF, Chen T, Wanagat J, Laflamme M, Marcinek DJ, Emond MJ, Ngo CP, Prolla TA, Rabinovitch PS.

Aging Cell. 2010 Aug;9(4):536-44. doi: 10.1111/j.1474-9726.2010.00581.x. Epub 2010 Apr 29.

43.

Cystic fibrosis HRCT scores correlate strongly with Pseudomonas infection.

Robinson TE, Leung AN, Chen X, Moss RB, Emond MJ.

Pediatr Pulmonol. 2009 Nov;44(11):1107-17. doi: 10.1002/ppul.21107.

PMID:
19824046
44.

Disruption of protein kinase A in mice enhances healthy aging.

Enns LC, Morton JF, Treuting PR, Emond MJ, Wolf NS, Dai DF, McKnight GS, Rabinovitch PS, Ladiges WC.

PLoS One. 2009 Jun 18;4(6):e5963. doi: 10.1371/journal.pone.0005963. Erratum in: PLoS One. 2010;5(2) doi: 10.1371/annotation/c7cad2dc-1eca-487e-89ae-151a22d8a0b4. Dai, Dao-Fu [added].

45.

An airway phantom to standardize CT acquisition in multicenter clinical trials.

Robinson TE, Long FR, Raman P, Saha P, Emond MJ, Reinhardt JM, Raman R, Brody AS.

Acad Radiol. 2009 Sep;16(9):1134-41. doi: 10.1016/j.acra.2009.02.018. Epub 2009 May 24.

PMID:
19467609
46.

Overexpression of catalase targeted to mitochondria attenuates murine cardiac aging.

Dai DF, Santana LF, Vermulst M, Tomazela DM, Emond MJ, MacCoss MJ, Gollahon K, Martin GM, Loeb LA, Ladiges WC, Rabinovitch PS.

Circulation. 2009 Jun 2;119(21):2789-97. doi: 10.1161/CIRCULATIONAHA.108.822403. Epub 2009 May 18.

47.

Genomic biomarkers to improve ulcerative colitis neoplasia surveillance.

Bronner MP, O'Sullivan JN, Rabinovitch PS, Crispin DA, Chen L, Emond MJ, Rubin CE, Brentnall TA.

Am J Pathol. 2008 Dec;173(6):1853-60. doi: 10.2353/ajpath.2008.080250. Epub 2008 Nov 6.

48.

Reduction of age-associated pathology in old mice by overexpression of catalase in mitochondria.

Treuting PM, Linford NJ, Knoblaugh SE, Emond MJ, Morton JF, Martin GM, Rabinovitch PS, Ladiges WC.

J Gerontol A Biol Sci Med Sci. 2008 Aug;63(8):813-22.

PMID:
18772469
49.

Endpoints for clinical trials in young children with cystic fibrosis.

Davis SD, Brody AS, Emond MJ, Brumback LC, Rosenfeld M.

Proc Am Thorac Soc. 2007 Aug 1;4(4):418-30. Review.

50.

Clinical response to azithromycin in cystic fibrosis correlates with in vitro effects on Pseudomonas aeruginosa phenotypes.

Nguyen D, Emond MJ, Mayer-Hamblett N, Saiman L, Marshall BC, Burns JL.

Pediatr Pulmonol. 2007 Jun;42(6):533-41.

PMID:
17469154

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