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Items: 47

1.

A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

Safarova MS, Satterfield BA, Fan X, Austin EE, Ye Z, Bastarache L, Zheng N, Ritchie MD, Borthwick KM, Williams MS, Larson EB, Scrol A, Jarvik GP, Crosslin DR, Leppig K, Rasmussen-Torvik LJ, Pendergrass SA, Sturm AC, Namjou B, Shah AS, Carroll RJ, Chung WK, Wei WQ, Feng Q, Stein CM, Roden DM, Manolio TA, Schaid DJ, Denny JC, Hebbring SJ, de Andrade M, Kullo IJ.

NPJ Genom Med. 2019 Feb 11;4:3. doi: 10.1038/s41525-019-0078-7. eCollection 2019.

2.

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.

3.

Pilot screening study of targeted genetic polymorphisms for association with seasonal influenza hospital admission.

Carter TC, Hebbring SJ, Liu J, Mosley JD, Shaffer CM, Ivacic LC, Kopitzke S, Stefanski EL, Strenn R, Sundaram ME, Meece J, Brilliant MH, Ferdinands JM, Belongia EA.

J Med Virol. 2018 Mar;90(3):436-446. doi: 10.1002/jmv.24975. Epub 2017 Nov 11.

4.

Applying family analyses to electronic health records to facilitate genetic research.

Huang X, Elston RC, Rosa GJ, Mayer J, Ye Z, Kitchner T, Brilliant MH, Page D, Hebbring SJ, Stegle O.

Bioinformatics. 2018 Feb 15;34(4):635-642. doi: 10.1093/bioinformatics/btx569.

5.

Relationship of SULT1A1 copy number variation with estrogen metabolism and human health.

Liu J, Zhao R, Ye Z, Frey AJ, Schriver ER, Snyder NW, Hebbring SJ.

J Steroid Biochem Mol Biol. 2017 Nov;174:169-175. doi: 10.1016/j.jsbmb.2017.08.017. Epub 2017 Sep 1.

6.

Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants.

Karnes JH, Bastarache L, Shaffer CM, Gaudieri S, Xu Y, Glazer AM, Mosley JD, Zhao S, Raychaudhuri S, Mallal S, Ye Z, Mayer JG, Brilliant MH, Hebbring SJ, Roden DM, Phillips EJ, Denny JC.

Sci Transl Med. 2017 May 10;9(389). pii: eaai8708. doi: 10.1126/scitranslmed.aai8708.

7.

The Decay of Disease Association with Declining Linkage Disequilibrium: A Fine Mapping Theorem.

Maadooliat M, Bansal NK, Upadhya J, Farazi MR, Li X, He MM, Hebbring SJ, Ye Z, Schrodi SJ.

Front Genet. 2016 Dec 12;7:217. doi: 10.3389/fgene.2016.00217. eCollection 2016.

8.

RNA-Binding Protein IGF2BP1 in Cutaneous Squamous Cell Carcinoma.

Kim T, Havighurst T, Kim K, Hebbring SJ, Ye Z, Aylward J, Keles S, Xu YG, Spiegelman VS.

J Invest Dermatol. 2017 Mar;137(3):772-775. doi: 10.1016/j.jid.2016.10.042. Epub 2016 Nov 14. No abstract available.

9.

Phenome-wide association study maps new diseases to the human major histocompatibility complex region.

Liu J, Ye Z, Mayer JG, Hoch BA, Green C, Rolak L, Cold C, Khor SS, Zheng X, Miyagawa T, Tokunaga K, Brilliant MH, Hebbring SJ.

J Med Genet. 2016 Oct;53(10):681-9. doi: 10.1136/jmedgenet-2016-103867. Epub 2016 Jun 10.

10.

Identifying genetically driven clinical phenotypes using linear mixed models.

Mosley JD, Witte JS, Larkin EK, Bastarache L, Shaffer CM, Karnes JH, Stein CM, Phillips E, Hebbring SJ, Brilliant MH, Mayer J, Ye Z, Roden DM, Denny JC.

Nat Commun. 2016 Apr 25;7:11433. doi: 10.1038/ncomms11433.

11.

The phenotypic legacy of admixture between modern humans and Neandertals.

Simonti CN, Vernot B, Bastarache L, Bottinger E, Carrell DS, Chisholm RL, Crosslin DR, Hebbring SJ, Jarvik GP, Kullo IJ, Li R, Pathak J, Ritchie MD, Roden DM, Verma SS, Tromp G, Prato JD, Bush WS, Akey JM, Denny JC, Capra JA.

Science. 2016 Feb 12;351(6274):737-41. doi: 10.1126/science.aad2149.

12.

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP Jr, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC, Shahid H, Moore AT, McGrath JA, Laux R, Brantley MA Jr, Agarwal A, Ersoy L, Caramoy A, Langmann T, Saksens NT, de Jong EK, Hoyng CB, Cain MS, Richardson AJ, Martin TM, Blangero J, Weeks DE, Dhillon B, van Duijn CM, Doheny KF, Romm J, Klaver CC, Hayward C, Gorin MB, Klein ML, Baird PN, den Hollander AI, Fauser S, Yates JR, Allikmets R, Wang JJ, Schaumberg DA, Klein BE, Hagstrom SA, Chowers I, Lotery AJ, Léveillard T, Zhang K, Brilliant MH, Hewitt AW, Swaroop A, Chew EY, Pericak-Vance MA, DeAngelis M, Stambolian D, Haines JL, Iyengar SK, Weber BH, Abecasis GR, Heid IM.

Nat Genet. 2016 Feb;48(2):134-43. doi: 10.1038/ng.3448. Epub 2015 Dec 21.

13.

Mining Retrospective Data for Virtual Prospective Drug Repurposing: L-DOPA and Age-related Macular Degeneration.

Brilliant MH, Vaziri K, Connor TB Jr, Schwartz SG, Carroll JJ, McCarty CA, Schrodi SJ, Hebbring SJ, Kishor KS, Flynn HW Jr, Moshfeghi AA, Moshfeghi DM, Fini ME, McKay BS.

Am J Med. 2016 Mar;129(3):292-8. doi: 10.1016/j.amjmed.2015.10.015. Epub 2015 Oct 30.

14.

Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy.

Van Driest SL, McGregor TL, Velez Edwards DR, Saville BR, Kitchner TE, Hebbring SJ, Brilliant M, Jouni H, Kullo IJ, Creech CB, Kannankeril PJ, Vear SI, Brothers KB, Bowton EA, Shaffer CM, Patel N, Delaney JT, Bradford Y, Wilson S, Olson LM, Crawford DC, Potts AL, Ho RH, Roden DM, Denny JC.

PLoS One. 2015 Jun 1;10(6):e0127791. doi: 10.1371/journal.pone.0127791. eCollection 2015.

15.

Opportunities for drug repositioning from phenome-wide association studies.

Rastegar-Mojarad M, Ye Z, Kolesar JM, Hebbring SJ, Lin SM.

Nat Biotechnol. 2015 Apr;33(4):342-5. doi: 10.1038/nbt.3183. No abstract available.

PMID:
25850054
16.

Application of clinical text data for phenome-wide association studies (PheWASs).

Hebbring SJ, Rastegar-Mojarad M, Ye Z, Mayer J, Jacobson C, Lin S.

Bioinformatics. 2015 Jun 15;31(12):1981-7. doi: 10.1093/bioinformatics/btv076. Epub 2015 Feb 4.

17.

SeqHBase: a big data toolset for family based sequencing data analysis.

He M, Person TN, Hebbring SJ, Heinzen E, Ye Z, Schrodi SJ, McPherson EW, Lin SM, Peissig PL, Brilliant MH, O'Rawe J, Robison RJ, Lyon GJ, Wang K.

J Med Genet. 2015 Apr;52(4):282-8. doi: 10.1136/jmedgenet-2014-102907. Epub 2015 Jan 13.

18.

Regulatory polymorphisms in human DBH affect peripheral gene expression and sympathetic activity.

Barrie ES, Weinshenker D, Verma A, Pendergrass SA, Lange LA, Ritchie MD, Wilson JG, Kuivaniemi H, Tromp G, Carey DJ, Gerhard GS, Brilliant MH, Hebbring SJ, Cubells JF, Pinsonneault JK, Norman GJ, Sadee W.

Circ Res. 2014 Dec 5;115(12):1017-25. doi: 10.1161/CIRCRESAHA.116.304398. Epub 2014 Oct 17.

19.

Use of an electronic medical record to create the marshfield clinic twin/multiple birth cohort.

Mayer J, Kitchner T, Ye Z, Zhou Z, He M, Schrodi SJ, Hebbring SJ.

Genet Epidemiol. 2014 Dec;38(8):692-8. doi: 10.1002/gepi.21855. Epub 2014 Sep 22.

20.

Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index.

Cronin RM, Field JR, Bradford Y, Shaffer CM, Carroll RJ, Mosley JD, Bastarache L, Edwards TL, Hebbring SJ, Lin S, Hindorff LA, Crane PK, Pendergrass SA, Ritchie MD, Crawford DC, Pathak J, Bielinski SJ, Carrell DS, Crosslin DR, Ledbetter DH, Carey DJ, Tromp G, Williams MS, Larson EB, Jarvik GP, Peissig PL, Brilliant MH, McCarty CA, Chute CG, Kullo IJ, Bottinger E, Chisholm R, Smith ME, Roden DM, Denny JC.

Front Genet. 2014 Aug 5;5:250. doi: 10.3389/fgene.2014.00250. eCollection 2014.

21.

Phenome-wide association studies (PheWASs) for functional variants.

Ye Z, Mayer J, Ivacic L, Zhou Z, He M, Schrodi SJ, Page D, Brilliant MH, Hebbring SJ.

Eur J Hum Genet. 2015 Apr;23(4):523-9. doi: 10.1038/ejhg.2014.123. Epub 2014 Jul 30.

22.

The challenges, advantages and future of phenome-wide association studies.

Hebbring SJ.

Immunology. 2014 Feb;141(2):157-65. doi: 10.1111/imm.12195. Review.

23.

A PheWAS approach in studying HLA-DRB1*1501.

Hebbring SJ, Schrodi SJ, Ye Z, Zhou Z, Page D, Brilliant MH.

Genes Immun. 2013 Apr;14(3):187-91. doi: 10.1038/gene.2013.2. Epub 2013 Feb 7.

24.

The impact of glucocorticoid polymorphisms on markers of neonatal respiratory disease after antenatal betamethasone administration.

Haas DM, Dantzer J, Lehmann AS, Philips S, Skaar TC, McCormick CL, Hebbring SJ, Jung J, Li L.

Am J Obstet Gynecol. 2013 Mar;208(3):215.e1-6. doi: 10.1016/j.ajog.2012.12.031. Epub 2013 Jan 4.

25.

Genetic evidence of PTPN22 effects on chronic lymphocytic leukemia.

Hebbring SJ, Slager SL, Epperla N, Mazza JJ, Ye Z, Zhou Z, Achenbach SJ, Vasco DA, Call TG, Rabe KG, Kay NE, Caporaso NE, Lanasa MC, Camp NJ, Strom SS, Goldin LR, Cerhan JR, Brilliant MH, Schrodi SJ.

Blood. 2013 Jan 3;121(1):237-8. doi: 10.1182/blood-2012-08-450221. No abstract available.

26.

Human liver methionine cycle: MAT1A and GNMT gene resequencing, functional genomics, and hepatic genotype-phenotype correlation.

Ji Y, Nordgren KK, Chai Y, Hebbring SJ, Jenkins GD, Abo RP, Peng Y, Pelleymounter LL, Moon I, Eckloff BW, Chai X, Zhang J, Fridley BL, Yee VC, Wieben ED, Weinshilboum RM.

Drug Metab Dispos. 2012 Oct;40(10):1984-92. doi: 10.1124/dmd.112.046953. Epub 2012 Jul 17.

27.

The impact of drug metabolizing enzyme polymorphisms on outcomes after antenatal corticosteroid use.

Haas DM, Lehmann AS, Skaar T, Philips S, McCormick CL, Beagle K, Hebbring SJ, Dantzer J, Li L, Jung J.

Am J Obstet Gynecol. 2012 May;206(5):447.e17-24. doi: 10.1016/j.ajog.2012.02.016. Epub 2012 Feb 28.

28.

Serine hydroxymethyltransferase 1 and 2: gene sequence variation and functional genomic characterization.

Hebbring SJ, Chai Y, Ji Y, Abo RP, Jenkins GD, Fridley B, Zhang J, Eckloff BW, Wieben ED, Weinshilboum RM.

J Neurochem. 2012 Mar;120(6):881-90. doi: 10.1111/j.1471-4159.2012.07646.x. Epub 2012 Feb 6.

29.

Copy number variation and cytidine analogue cytotoxicity: a genome-wide association approach.

Kalari KR, Hebbring SJ, Chai HS, Li L, Kocher JP, Wang L, Weinshilboum RM.

BMC Genomics. 2010 Jun 4;11:357. doi: 10.1186/1471-2164-11-357.

30.

Polymorphisms in mitochondrial genes and prostate cancer risk.

Wang L, McDonnell SK, Hebbring SJ, Cunningham JM, St Sauver J, Cerhan JR, Isaya G, Schaid DJ, Thibodeau SN.

Cancer Epidemiol Biomarkers Prev. 2008 Dec;17(12):3558-66. doi: 10.1158/1055-9965.EPI-08-0434.

31.

Sulfotransferase gene copy number variation: pharmacogenetics and function.

Hebbring SJ, Moyer AM, Weinshilboum RM.

Cytogenet Genome Res. 2008;123(1-4):205-10. doi: 10.1159/000184710. Epub 2009 Mar 11. Review.

32.

Fine mapping of familial prostate cancer families narrows the interval for a susceptibility locus on chromosome 22q12.3 to 1.36 Mb.

Johanneson B, McDonnell SK, Karyadi DM, Hebbring SJ, Wang L, Deutsch K, McIntosh L, Kwon EM, Suuriniemi M, Stanford JL, Schaid DJ, Ostrander EA, Thibodeau SN.

Hum Genet. 2008 Feb;123(1):65-75. Epub 2007 Dec 8.

PMID:
18066601
33.

Glutathione S-transferase T1 and M1: gene sequence variation and functional genomics.

Moyer AM, Salavaggione OE, Hebbring SJ, Moon I, Hildebrandt MA, Eckloff BW, Schaid DJ, Wieben ED, Weinshilboum RM.

Clin Cancer Res. 2007 Dec 1;13(23):7207-16.

34.

Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer.

Cunningham JM, Hebbring SJ, McDonnell SK, Cicek MS, Christensen GB, Wang L, Jacobsen SJ, Cerhan JR, Blute ML, Schaid DJ, Thibodeau SN.

Cancer Epidemiol Biomarkers Prev. 2007 May;16(5):969-78.

35.

Two common chromosome 8q24 variants are associated with increased risk for prostate cancer.

Wang L, McDonnell SK, Slusser JP, Hebbring SJ, Cunningham JM, Jacobsen SJ, Cerhan JR, Blute ML, Schaid DJ, Thibodeau SN.

Cancer Res. 2007 Apr 1;67(7):2944-50.

36.

Human SULT1A1 gene: copy number differences and functional implications.

Hebbring SJ, Adjei AA, Baer JL, Jenkins GD, Zhang J, Cunningham JM, Schaid DJ, Weinshilboum RM, Thibodeau SN.

Hum Mol Genet. 2007 Mar 1;16(5):463-70. Epub 2006 Dec 22.

PMID:
17189289
37.

Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer.

Hebbring SJ, Fredriksson H, White KA, Maier C, Ewing C, McDonnell SK, Jacobsen SJ, Cerhan J, Schaid DJ, Ikonen T, Autio V, Tammela TL, Herkommer K, Paiss T, Vogel W, Gielzak M, Sauvageot J, Schleutker J, Cooney KA, Isaacs W, Thibodeau SN.

Cancer Epidemiol Biomarkers Prev. 2006 May;15(5):935-8.

38.

Growth factor, cytokine, and vitamin D receptor polymorphisms and risk of benign prostatic hyperplasia in a community-based cohort of men.

Mullan RJ, Bergstralh EJ, Farmer SA, Jacobson DJ, Hebbring SJ, Cunningham JM, Thibodeau SN, Lieber MM, Jacobsen SJ, Roberts RO.

Urology. 2006 Feb;67(2):300-5.

PMID:
16461080
39.

Polymorphisms in genes involved in sex hormone metabolism may increase risk of benign prostatic hyperplasia.

Roberts RO, Bergstralh EJ, Farmer SA, Jacobson DJ, Hebbring SJ, Cunningham JM, Thibodeau SN, Lieber MM, Jacobsen SJ.

Prostate. 2006 Mar 1;66(4):392-404.

PMID:
16302261
40.

SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies.

Klein CJ, Wu Y, Kruckeberg KE, Hebbring SJ, Anderson SA, Cunningham JM, Dyck PJ, Klein DM, Thibodeau SN, Dyck PJ.

J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1022-4.

41.

Nonparametric tests of association of multiple genes with human disease.

Schaid DJ, McDonnell SK, Hebbring SJ, Cunningham JM, Thibodeau SN.

Am J Hum Genet. 2005 May;76(5):780-93. Epub 2005 Mar 22.

42.

Gluthatione-S-transferase P1 polymorphism I105V in familial and sporadic prostate cancer.

Debes JD, Yokomizo A, McDonnell SK, Hebbring SJ, Christensen GB, Cunningham JM, Jacobsen SJ, Tindall DJ, Liu W, Schaid DJ, Thibodeau SN.

Cancer Genet Cytogenet. 2004 Nov;155(1):82-6.

PMID:
15527908
43.

Polymorphisms in the 5alpha reductase type 2 gene and urologic measures of BPH.

Roberts RO, Bergstralh EJ, Farmer SA, Jacobson DJ, McGree ME, Hebbring SJ, Cunningham JM, Anderson SA, Thibodeau SN, Lieber MM, Jacobsen SJ.

Prostate. 2005 Mar 1;62(4):380-7.

PMID:
15389785
44.

Allelic imbalance of 8p indicates poor survival in gastric cancer.

French AJ, Petroni G, Thibideau SN, Smolkin M, Bissonette E, Roviello F, Harper JC, Koch BR, Anderson SA, Hebbring SJ, Powell SM.

J Mol Diagn. 2004 Aug;6(3):243-52.

45.

Androgen receptor gene polymorphisms and increased risk of urologic measures of benign prostatic hyperplasia.

Roberts RO, Bergstralh EJ, Cunningham JM, Hebbring SJ, Thibodeau SN, Lieber MM, Jacobsen SJ.

Am J Epidemiol. 2004 Feb 1;159(3):269-76.

PMID:
14742287
46.

The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders.

Klein CJ, Cunningham JM, Atkinson EJ, Schaid DJ, Hebbring SJ, Anderson SA, Klein DM, Dyck PJ, Litchy WJ, Thibodeau SN, Dyck PJ.

Neurology. 2003 Apr 8;60(7):1151-6.

PMID:
12682323
47.

Confirmation of linkage of prostate cancer aggressiveness with chromosome 19q.

Slager SL, Schaid DJ, Cunningham JM, McDonnell SK, Marks AF, Peterson BJ, Hebbring SJ, Anderson S, French AJ, Thibodeau SN.

Am J Hum Genet. 2003 Mar;72(3):759-62. Epub 2003 Jan 30.

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