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Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1.

Winkler NS, Milone M, Martinez-Thompson JM, Raja H, Aleff RA, Patel SV, Fautsch MP, Wieben ED, Baratz KH.

Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):3053-3057. doi: 10.1167/iovs.17-23160.


Gene expression in the corneal endothelium of Fuchs endothelial corneal dystrophy patients with and without expansion of a trinucleotide repeat in TCF4.

Wieben ED, Aleff RA, Tang X, Kalari KR, Maguire LJ, Patel SV, Baratz KH, Fautsch MP.

PLoS One. 2018 Jul 2;13(7):e0200005. doi: 10.1371/journal.pone.0200005. eCollection 2018.


Repeat-Associated Non-ATG (RAN) Translation in Fuchs' Endothelial Corneal Dystrophy.

Soragni E, Petrosyan L, Rinkoski TA, Wieben ED, Baratz KH, Fautsch MP, Gottesfeld JM.

Invest Ophthalmol Vis Sci. 2018 Apr 1;59(5):1888-1896. doi: 10.1167/iovs.17-23265.


Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.

Cousin MA, Smith MJ, Sigafoos AN, Jin JJ, Murphree MI, Boczek NJ, Blackburn PR, Oliver GR, Aleff RA, Clark KJ, Wieben ED, Joshi AY, Pichurin PN, Abraham RS, Klee EW.

J Clin Immunol. 2018 Apr;38(3):307-319. doi: 10.1007/s10875-018-0499-6. Epub 2018 Apr 18.


A prospective genome-wide study of prostate cancer metastases reveals association of wnt pathway activation and increased cell cycle proliferation with primary resistance to abiraterone acetate-prednisone.

Wang L, Dehm SM, Hillman DW, Sicotte H, Tan W, Gormley M, Bhargava V, Jimenez R, Xie F, Yin P, Qin S, Quevedo F, Costello BA, Pitot HC, Ho T, Bryce AH, Ye Z, Li Y, Eiken P, Vedell PT, Barman P, McMenomy BP, Atwell TD, Carlson RE, Ellingson M, Eckloff BW, Qin R, Ou F, Hart SN, Huang H, Jen J, Wieben ED, Kalari KR, Weinshilboum RM, Wang L, Kohli M.

Ann Oncol. 2018 Feb 1;29(2):352-360. doi: 10.1093/annonc/mdx689.


Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21.

Martinez-Thompson JM, Niu Z, Tracy JA, Moore SA, Swenson A, Wieben ED, Milone M.

Muscle Nerve. 2018 Apr;57(4):679-683. doi: 10.1002/mus.25970. Epub 2017 Sep 30.


Androgen Receptor Variant AR-V9 Is Coexpressed with AR-V7 in Prostate Cancer Metastases and Predicts Abiraterone Resistance.

Kohli M, Ho Y, Hillman DW, Van Etten JL, Henzler C, Yang R, Sperger JM, Li Y, Tseng E, Hon T, Clark T, Tan W, Carlson RE, Wang L, Sicotte H, Thai H, Jimenez R, Huang H, Vedell PT, Eckloff BW, Quevedo JF, Pitot HC, Costello BA, Jen J, Wieben ED, Silverstein KAT, Lang JM, Wang L, Dehm SM.

Clin Cancer Res. 2017 Aug 15;23(16):4704-4715. doi: 10.1158/1078-0432.CCR-17-0017. Epub 2017 May 4.


Retinoic acid receptor alpha drives cell cycle progression and is associated with increased sensitivity to retinoids in T-cell lymphoma.

Wang X, Dasari S, Nowakowski GS, Lazaridis KN, Wieben ED, Kadin ME, Feldman AL, Boddicker RL.

Oncotarget. 2017 Apr 18;8(16):26245-26255. doi: 10.18632/oncotarget.15441.


Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.

Goetz MP, Kalari KR, Suman VJ, Moyer AM, Yu J, Visscher DW, Dockter TJ, Vedell PT, Sinnwell JP, Tang X, Thompson KJ, McLaughlin SA, Moreno-Aspitia A, Copland JA, Northfelt DW, Gray RJ, Hunt K, Conners A, Sicotte H, Eckel-Passow JE, Kocher JP, Ingle JN, Ellingson MS, McDonough M, Wieben ED, Weinshilboum R, Wang L, Boughey JC.

J Natl Cancer Inst. 2017 Jul 1;109(7). doi: 10.1093/jnci/djw306.


Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy.

Wieben ED, Aleff RA, Tang X, Butz ML, Kalari KR, Highsmith EW, Jen J, Vasmatzis G, Patel SV, Maguire LJ, Baratz KH, Fautsch MP.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):343-352. doi: 10.1167/iovs.16-20900.


Erratum to: Conserved recurrent gene mutations correlate with pathway deregulation and clinical outcomes of lung adenocarcinoma in never-smokers.

Sun Z, Wang L, Eckloff BW, Deng B, Wang Y, Wampfler JA, Jang J, Wieben ED, Jen J, You M, Yang P.

BMC Med Genomics. 2017 Jan 5;10(1):1. doi: 10.1186/s12920-016-0237-y. No abstract available.


Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

Lazaridis KN, Schahl KA, Cousin MA, Babovic-Vuksanovic D, Riegert-Johnson DL, Gavrilova RH, McAllister TM, Lindor NM, Abraham RS, Ackerman MJ, Pichurin PN, Deyle DR, Gavrilov DK, Hand JL, Klee EW, Stephens MC, Wick MJ, Atkinson EJ, Linden DR, Ferber MJ, Wieben ED, Farrugia G; Individualized Medicine Clinic Members.

Mayo Clin Proc. 2016 Mar;91(3):297-307. doi: 10.1016/j.mayocp.2015.12.018.


Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.

Weyhrauch DL, Ye D, Boczek NJ, Tester DJ, Gavrilova RH, Patterson MC, Wieben ED, Ackerman MJ.

Pediatr Neurol. 2016 Feb;55:46-51. doi: 10.1016/j.pediatrneurol.2015.10.014. Epub 2015 Nov 6.


Mutational Landscapes of Sequential Prostate Metastases and Matched Patient Derived Xenografts during Enzalutamide Therapy.

Kohli M, Wang L, Xie F, Sicotte H, Yin P, Dehm SM, Hart SN, Vedell PT, Barman P, Qin R, Mahoney DW, Carlson RE, Eckel-Passow JE, Atwell TD, Eiken PW, McMenomy BP, Wieben ED, Jha G, Jimenez RE, Weinshilboum R, Wang L.

PLoS One. 2015 Dec 22;10(12):e0145176. doi: 10.1371/journal.pone.0145176. eCollection 2015.


Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes.

Lindor NM, Schahl KA, Johnson KJ, Hunt KS, Mensink KA, Wieben ED, Klee E, Black JL, Highsmith WE Jr, Thibodeau SN, Ferber MJ, Aypar U, Ji Y, Graham RP, Fiksdal AS, Sarangi V, Ormond KE, Riegert-Johnson DL, McAllister TM, Farrugia G, McCormick JB.

Mayo Clin Proc. 2015 Oct;90(10):1327-37. doi: 10.1016/j.mayocp.2015.05.021.


Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

Ellingson MS, Hart SN, Kalari KR, Suman V, Schahl KA, Dockter TJ, Felten SJ, Sinnwell JP, Thompson KJ, Tang X, Vedell PT, Barman P, Sicotte H, Eckel-Passow JE, Northfelt DW, Gray RJ, McLaughlin SA, Moreno-Aspitia A, Ingle JN, Moyer AM, Visscher DW, Jones K, Conners A, McDonough M, Wieben ED, Wang L, Weinshilboum R, Boughey JC, Goetz MP.

Breast Cancer Res Treat. 2015 Sep;153(2):435-43. doi: 10.1007/s10549-015-3545-6. Epub 2015 Aug 22.


How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S, Lindor NM, McDonnell SK, Olson JE, Johnson KJ, Wieben ED, Farrugia G, Cerhan JR, Thibodeau SN.

Front Genet. 2015 Jul 24;6:244. doi: 10.3389/fgene.2015.00244. eCollection 2015.


Trinucleotide Repeat Expansion in the TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy in Japanese.

Nakano M, Okumura N, Nakagawa H, Koizumi N, Ikeda Y, Ueno M, Yoshii K, Adachi H, Aleff RA, Butz ML, Highsmith WE, Tashiro K, Wieben ED, Kinoshita S, Baratz KH.

Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4865-9. doi: 10.1167/iovs.15-17082.


Recessive 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. doi: 10.1161/CIRCGENETICS.115.001070. Epub 2015 Jun 17.


RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy.

Du J, Aleff RA, Soragni E, Kalari K, Nie J, Tang X, Davila J, Kocher JP, Patel SV, Gottesfeld JM, Baratz KH, Wieben ED.

J Biol Chem. 2015 Mar 6;290(10):5979-90. doi: 10.1074/jbc.M114.621607. Epub 2015 Jan 15.


Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations.

Wu L, Schaid DJ, Sicotte H, Wieben ED, Li H, Petersen GM.

J Med Genet. 2015 Jan;52(1):10-6. doi: 10.1136/jmedgenet-2014-102697. Epub 2014 Nov 4. Review.


Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy.

Wieben ED, Aleff RA, Eckloff BW, Atkinson EJ, Baheti S, Middha S, Brown WL, Patel SV, Kocher JP, Baratz KH.

Invest Ophthalmol Vis Sci. 2014 Aug 28;55(9):6101-7. doi: 10.1167/iovs.14-14958.


Clinical biomarkers of pulmonary carcinoid tumors in never smokers via profiling miRNA and target mRNA.

Deng B, Molina J, Aubry MC, Sun Z, Wang L, Eckloff BW, Vasmatzis G, You M, Wieben ED, Jen J, Wigle DA, Yang P.

Cell Biosci. 2014 Jul 9;4:35. doi: 10.1186/2045-3701-4-35. eCollection 2014.


Promoter-proximal transcription factor binding is transcriptionally active when coupled with nucleosome repositioning in immediate vicinity.

Yadav VK, Thakur RK, Eckloff B, Baral A, Singh A, Halder R, Kumar A, Alam MP, Kundu TK, Pandita R, Pandita TK, Wieben ED, Chowdhury S.

Nucleic Acids Res. 2014 Sep;42(15):9602-11. doi: 10.1093/nar/gku596. Epub 2014 Jul 31.


Genomic medicine and incidental findings: balancing actionability and patient autonomy.

McCormick JB, Sharp RR, Farrugia G, Lindor NM, Babovic-Vuksanovic D, Borad MJ, Bryce AH, Caselli RJ, Ferber MJ, Johnson KJ, Lazaridis KN, McWilliams RR, Murray JA, Parker AS, Schahl KA, Wieben ED.

Mayo Clin Proc. 2014 Jun;89(6):718-21. doi: 10.1016/j.mayocp.2014.04.008. No abstract available.


TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.

Theis JL, Zimmermann MT, Larsen BT, Rybakova IN, Long PA, Evans JM, Middha S, de Andrade M, Moss RL, Wieben ED, Michels VV, Olson TM.

Hum Mol Genet. 2014 Nov 1;23(21):5793-804. doi: 10.1093/hmg/ddu297. Epub 2014 Jun 11.


Conserved recurrent gene mutations correlate with pathway deregulation and clinical outcomes of lung adenocarcinoma in never-smokers.

Sun Z, Wang L, Eckloff BW, Deng B, Wang Y, Wampfler JA, Jang J, Wieben ED, Jen J, You M, Yang P.

BMC Med Genomics. 2014 Jun 4;7:32. doi: 10.1186/1755-8794-7-32. Erratum in: BMC Med Genomics. 2017 Jan 5;10 (1):1.


Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.

Dhamija R, Kirmani S, Wang X, Ferber MJ, Wieben ED, Lazaridis KN, Babovic-Vuksanovic D.

Am J Med Genet A. 2014 Sep;164A(9):2356-9. doi: 10.1002/ajmg.a.36621. Epub 2014 May 28.


Implementing individualized medicine into the medical practice.

Lazaridis KN, McAllister TM, Babovic-Vuksanovic D, Beck SA, Borad MJ, Bryce AH, Chanan-Khan AA, Ferber MJ, Fonseca R, Johnson KJ, Klee EW, Lindor NM, McCormick JB, McWilliams RR, Parker AS, Riegert-Johnson DL, Rohrer Vitek CR, Schahl KA, Schultz C, Stewart K, Then GC, Wieben ED, Farrugia G.

Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):15-23. doi: 10.1002/ajmg.c.31387. Epub 2014 Mar 10. Review.


PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations.

Bendl J, Stourac J, Salanda O, Pavelka A, Wieben ED, Zendulka J, Brezovsky J, Damborsky J.

PLoS Comput Biol. 2014 Jan;10(1):e1003440. doi: 10.1371/journal.pcbi.1003440. Epub 2014 Jan 16.


Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol.

Bielinski SJ, Olson JE, Pathak J, Weinshilboum RM, Wang L, Lyke KJ, Ryu E, Targonski PV, Van Norstrand MD, Hathcock MA, Takahashi PY, McCormick JB, Johnson KJ, Maschke KJ, Rohrer Vitek CR, Ellingson MS, Wieben ED, Farrugia G, Morrisette JA, Kruckeberg KJ, Bruflat JK, Peterson LM, Blommel JH, Skierka JM, Ferber MJ, Black JL, Baudhuin LM, Klee EW, Ross JL, Veldhuizen TL, Schultz CG, Caraballo PJ, Freimuth RR, Chute CG, Kullo IJ.

Mayo Clin Proc. 2014 Jan;89(1):25-33. doi: 10.1016/j.mayocp.2013.10.021.


Contribution of FKBP5 genetic variation to gemcitabine treatment and survival in pancreatic adenocarcinoma.

Ellsworth KA, Eckloff BW, Li L, Moon I, Fridley BL, Jenkins GD, Carlson E, Brisbin A, Abo R, Bamlet W, Petersen G, Wieben ED, Wang L.

PLoS One. 2013 Aug 1;8(8):e70216. doi: 10.1371/journal.pone.0070216. Print 2013.


The genomic landscape of small intestine neuroendocrine tumors.

Banck MS, Kanwar R, Kulkarni AA, Boora GK, Metge F, Kipp BR, Zhang L, Thorland EC, Minn KT, Tentu R, Eckloff BW, Wieben ED, Wu Y, Cunningham JM, Nagorney DM, Gilbert JA, Ames MM, Beutler AS.

J Clin Invest. 2013 Jun;123(6):2502-8. doi: 10.1172/JCI67963. Epub 2013 May 15.


Natriuretic peptide receptor-3 gene (NPR3): nonsynonymous polymorphism results in significant reduction in protein expression because of accelerated degradation.

Pereira NL, Lin D, Pelleymounter L, Moon I, Stilling G, Eckloff BW, Wieben ED, Redfield MM, Burnett JC Jr, Yee VC, Weinshilboum RM.

Circ Cardiovasc Genet. 2013 Apr;6(2):201-10. doi: 10.1161/CIRCGENETICS.112.964742. Epub 2013 Mar 14.


Multi-platform analysis of microRNA expression measurements in RNA from fresh frozen and FFPE tissues.

Kolbert CP, Feddersen RM, Rakhshan F, Grill DE, Simon G, Middha S, Jang JS, Simon V, Schultz DA, Zschunke M, Lingle W, Carr JM, Thompson EA, Oberg AL, Eckloff BW, Wieben ED, Li P, Yang P, Jen J.

PLoS One. 2013;8(1):e52517. doi: 10.1371/journal.pone.0052517. Epub 2013 Jan 31. Erratum in: PLoS One. 2014;9(1). doi:10.1371/annotation/7d397301-705d-46bb-92cc-ce725975273a.


FKBP5 genetic variation: association with selective serotonin reuptake inhibitor treatment outcomes in major depressive disorder.

Ellsworth KA, Moon I, Eckloff BW, Fridley BL, Jenkins GD, Batzler A, Biernacka JM, Abo R, Brisbin A, Ji Y, Hebbring S, Wieben ED, Mrazek DA, Weinshilboum RM, Wang L.

Pharmacogenet Genomics. 2013 Mar;23(3):156-66. doi: 10.1097/FPC.0b013e32835dc133.


A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.

Wieben ED, Aleff RA, Tosakulwong N, Butz ML, Highsmith WE, Edwards AO, Baratz KH.

PLoS One. 2012;7(11):e49083. doi: 10.1371/journal.pone.0049083. Epub 2012 Nov 21.


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.


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.


Gemcitabine metabolic pathway genetic polymorphisms and response in patients with non-small cell lung cancer.

Li L, Schaid DJ, Fridley BL, Kalari KR, Jenkins GD, Abo RP, Batzler A, Moon I, Pelleymounter L, Eckloff BW, Wieben ED, Sun Z, Yang P, Wang L.

Pharmacogenet Genomics. 2012 Feb;22(2):105-16. doi: 10.1097/FPC.0b013e32834dd7e2.


Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.

Theis JL, Sharpe KM, Matsumoto ME, Chai HS, Nair AA, Theis JD, de Andrade M, Wieben ED, Michels VV, Olson TM.

Circ Cardiovasc Genet. 2011 Dec;4(6):585-94. doi: 10.1161/CIRCGENETICS.111.961052. Epub 2011 Sep 30.


Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families.

Shekunov J, de Groen PC, Lindor NM, Klee GG, Aleff RA, Wieben ED, Mohney BG.

J AAPOS. 2011 Aug;15(4):356-61. doi: 10.1016/j.jaapos.2011.03.020.


Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.

McWilliams RR, Wieben ED, Rabe KG, Pedersen KS, Wu Y, Sicotte H, Petersen GM.

Eur J Hum Genet. 2011 Apr;19(4):472-8. doi: 10.1038/ejhg.2010.198. Epub 2010 Dec 8.


Discovery of recurrent t(6;7)(p25.3;q32.3) translocations in ALK-negative anaplastic large cell lymphomas by massively parallel genomic sequencing.

Feldman AL, Dogan A, Smith DI, Law ME, Ansell SM, Johnson SH, Porcher JC, Ozsan N, Wieben ED, Eckloff BW, Vasmatzis G.

Blood. 2011 Jan 20;117(3):915-9. doi: 10.1182/blood-2010-08-303305. Epub 2010 Oct 28.


Pharmacogenetics of the mycophenolic acid targets inosine monophosphate dehydrogenases IMPDH1 and IMPDH2: gene sequence variation and functional genomics.

Wu TY, Peng Y, Pelleymounter LL, Moon I, Eckloff BW, Wieben ED, Yee VC, Weinshilboum RM.

Br J Pharmacol. 2010 Dec;161(7):1584-98. doi: 10.1111/j.1476-5381.2010.00987.x.


Natriuretic peptide pharmacogenetics: membrane metallo-endopeptidase (MME): common gene sequence variation, functional characterization and degradation.

Pereira NL, Aksoy P, Moon I, Peng Y, Redfield MM, Burnett JC Jr, Wieben ED, Yee VC, Weinshilboum RM.

J Mol Cell Cardiol. 2010 Nov;49(5):864-74. doi: 10.1016/j.yjmcc.2010.07.020. Epub 2010 Aug 6.


Myosin individualized: single nucleotide polymorphisms in energy transduction.

Burghardt TP, Neff KL, Wieben ED, Ajtai K.

BMC Genomics. 2010 Mar 15;11:172. doi: 10.1186/1471-2164-11-172.


Functional genetic polymorphisms in the aromatase gene CYP19 vary the response of breast cancer patients to neoadjuvant therapy with aromatase inhibitors.

Wang L, Ellsworth KA, Moon I, Pelleymounter LL, Eckloff BW, Martin YN, Fridley BL, Jenkins GD, Batzler A, Suman VJ, Ravi S, Dixon JM, Miller WR, Wieben ED, Buzdar A, Weinshilboum RM, Ingle JN.

Cancer Res. 2010 Jan 1;70(1):319-28. doi: 10.1158/0008-5472.CAN-09-3224.


3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer.

Asmann YW, Klee EW, Thompson EA, Perez EA, Middha S, Oberg AL, Therneau TM, Smith DI, Poland GA, Wieben ED, Kocher JP.

BMC Genomics. 2009 Nov 16;10:531. doi: 10.1186/1471-2164-10-531.


Cytosolic 5'-nucleotidase III (NT5C3): gene sequence variation and functional genomics.

Aksoy P, Zhu MJ, Kalari KR, Moon I, Pelleymounter LL, Eckloff BW, Wieben ED, Yee VC, Weinshilboum RM, Wang L.

Pharmacogenet Genomics. 2009 Aug;19(8):567-76. doi: 10.1097/FPC.0b013e32832c14b8.

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