OpenURL Connection Search

Select item for more details and to access through your institution.

P3‐098: REDUCED GENOMIC DIVERSITY AS A RISK FACTOR FOR NONFAMILIAL YOUNG ONSET ALZHEIMER'S DISEASE.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P1104, doi. 10.1016/j.jalz.2018.06.1454
By:
- Caselli, Richard J.;
- Woodruff, Bryan K.;
- Lindor, Noralane M.;
- Wieben, Eric D.;
- Piras, Ignazio;
- Huentelman, Matthew J.;
- Liu, Li
Publication type:
Article
The genomic landscape of small intestine neuroendocrine tumors.
Published in:
2013
By:
- Banck, Michaela S;
- Kanwar, Rahul;
- Kulkarni, Amit A;
- Boora, Ganesh K;
- Metge, Franziska;
- Kipp, Benjamin R;
- Zhang, Lizhi;
- Thorland, Erik C;
- Minn, Kay T;
- Tentu, Ramesh;
- Eckloff, Bruce W;
- Wieben, Eric D;
- Wu, Yanhong;
- Cunningham, Julie M;
- Nagorney, David M;
- Gilbert, Judith A;
- Ames, Matthew M;
- Beutler, Andreas S
Publication type:
journal article
The genomic landscape of small intestine neuroendocrine tumors.
Published in:
Journal of Clinical Investigation, 2013, v. 123, n. 6, p. 2502, doi. 10.1172/JCI67963
By:
- Banck, Michaela S.;
- Kanwar, Rahul;
- Kulkarni, Amit A.;
- Boora, Ganesh K.;
- Metge, Franziska;
- Kipp, Benjamin R.;
- Lizhi Zhang;
- Thorland, Erik C.;
- Minn, Kay T.;
- Tentu, Ramesh;
- Eckloff, Bruce W.;
- Wieben, Eric D.;
- Yanhong Wu;
- Cunningham, Julie M.;
- Nagorney, David M.;
- Gilbert, Judith A.;
- Ames, Matthew M.;
- Beutler, Andreas S.
Publication type:
Article
Human estrogen sulfotransferase (SULT1E1) pharmacogenomics: gene resequencing and functional genomics.
Published in:
2003
By:
- Adjei, Araba A.;
- Thomae, Bianca A.;
- Prondzinski, Janel L.;
- Eckloff, Bruce W.;
- Wieben, Eric D.;
- Weinshilboum, Richard M.
Publication type:
journal article
Promoter-proximal transcription factor binding is transcriptionally active when coupled with nucleosome repositioning in immediate vicinity.
Published in:
Nucleic Acids Research, 2014, v. 42, n. 15, p. 9602, doi. 10.1093/nar/gku596
By:
- Yadav, Vinod Kumar;
- Thakur, Ram Krishna;
- Eckloff, Bruce;
- Baral, Aradhita;
- Singh, Ankita;
- Halder, Rashi;
- Akinchan Kumar;
- Mohammad Parwez Alam;
- Kundu, Tapas K.;
- Pandita, Raj;
- Pandita, Tej K.;
- Wieben, Eric D.;
- Chowdhury, Shantanu
Publication type:
Article
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2356, doi. 10.1002/ajmg.a.36621
By:
- Dhamija, Radhika;
- Kirmani, Salman;
- Wang, Xiangling;
- Ferber, Matthew J.;
- Wieben, Eric D.;
- Lazaridis, Konstantinos N.;
- Babovic‐Vuksanovic, Dusica
Publication type:
Article
Contribution of <i>FKBP5</i> Genetic Variation to Gemcitabine Treatment and Survival in Pancreatic Adenocarcinoma.
Published in:
PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0070216
By:
- Ellsworth, Katarzyna A.;
- Eckloff, Bruce W.;
- Li, Liang;
- Moon, Irene;
- Fridley, Brooke L.;
- Jenkins, Gregory D.;
- Carlson, Erin;
- Brisbin, Abra;
- Abo, Ryan;
- Bamlet, William;
- Petersen, Gloria;
- Wieben, Eric D.;
- Wang, Liewei
Publication type:
Article
Multi-Platform Analysis of MicroRNA Expression Measurements in RNA from Fresh Frozen and FFPE Tissues.
Published in:
PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0052517
By:
- Kolbert, Christopher P.;
- Feddersen, Rod M.;
- Rakhshan, Fariborz;
- Grill, Diane E.;
- Simon, Gyorgy;
- Middha, Sumit;
- Jin Sung Jang;
- Simon, Vernadette;
- Schultz, Debra A.;
- Zschunke, Michael;
- Lingle, Wilma;
- Carr, Jennifer M.;
- Thompson, E. Aubrey;
- Oberg, Ann L.;
- Eckloff, Bruce W.;
- Wieben, Eric D.;
- Li, Peter;
- Ping Yang;
- Jin Jen
Publication type:
Article
A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy.
Published in:
PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049083
By:
- Wieben, Eric D.;
- Aleff, Ross A.;
- Tosakulwong, Nirubol;
- Butz, Malinda L.;
- Highsmith, W. Edward;
- Edwards, Albert O.;
- Baratz, Keith H.
Publication type:
Article
Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21.
Published in:
2018
By:
- Martinez‐Thompson, Jennifer M.;
- Niu, Zhiyv;
- Tracy, Jennifer A.;
- Moore, Steven A.;
- Swenson, Andrea;
- Wieben, Eric D.;
- Milone, Margherita;
- Martinez-Thompson, Jennifer M
Publication type:
journal article
Human glucocorticoid receptor alpha gene (NR3C1) pharmacogenomics: gene resequencing and functional genomics.
Published in:
2009
By:
- Niu, Nifang;
- Manickam, Venkatraman;
- Kalari, Krishna R;
- Moon, Irene;
- Pelleymounter, Linda L;
- Eckloff, Bruce W;
- Wieben, Eric D;
- Schaid, Daniel J;
- Wang, Liewei
Publication type:
journal article
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Published in:
Frontiers in Genetics, 2015, p. 1, doi. 10.3389/fgene.2015.00244
By:
- Middha, Sumit;
- Lindor, Noralane M.;
- McDonnell, Shannon K.;
- Olson, Janet E.;
- Johnson, Kiley J.;
- Wieben, Eric D.;
- Farrugia, Gianrico;
- Cerhan, James R.;
- Thibodeau, Stephen N.
Publication type:
Article
Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 4, p. 472, doi. 10.1038/ejhg.2010.198
By:
- McWilliams, Robert R.;
- Wieben, Eric D.;
- Rabe, Kari G.;
- Pedersen, Katrina S.;
- Yanhong Wu;
- Sicotte, Hugues;
- Petersen, Gloria M.
Publication type:
Article
Comparison of TCF4 repeat expansion length in corneal endothelium and leukocytes of patients with Fuchs endothelial corneal dystrophy.
Published in:
PLoS ONE, 2021, v. 16, n. 12, p. 1, doi. 10.1371/journal.pone.0260837
By:
- Wieben, Eric D.;
- Aleff, Ross A.;
- Rinkoski, Tommy A.;
- Baratz, Keith H.;
- Basu, Shubham;
- Patel, Sanjay V.;
- Maguire, Leo J.;
- Fautsch, Michael P.
Publication type:
Article
Characterization of a dual media system for culturing primary normal and Fuchs endothelial corneal dystrophy (FECD) endothelial cells.
Published in:
PLoS ONE, 2021, v. 16, n. 9, p. 1, doi. 10.1371/journal.pone.0258006
By:
- Rinkoski, Tommy A.;
- Bahler, Cindy K.;
- Pacheco, Johann M.;
- Khanna, Maya L.;
- Holmes, David M.;
- Roy Chowdhury, Uttio;
- Baratz, Keith H.;
- Patel, Sanjay V.;
- Maguire, Leo J.;
- Wieben, Eric D.;
- Fautsch, Michael P.
Publication type:
Article
3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer.
Published in:
BMC Genomics, 2009, v. 10, p. 531, doi. 10.1186/1471-2164-10-531
By:
- Asmann, Yan W.;
- Klee, Eric W.;
- Thompson, E. Aubrey;
- Perez, Edith A.;
- Middha, Sumit;
- Oberg, Ann L.;
- Therneau, Terry M.;
- Smith, David I.;
- Poland, Gregory A.;
- Wieben, Eric D.;
- Kocher, Jean-Pierre A.
Publication type:
Article
Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy.
Published in:
Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00736
By:
- Kendig, Katherine I.;
- Baheti, Saurabh;
- Bockol, Matthew A.;
- Drucker, Travis M.;
- Hart, Steven N.;
- Heldenbrand, Jacob R.;
- Hernaez, Mikel;
- Hudson, Matthew E.;
- Kalmbach, Michael T.;
- Klee, Eric W.;
- Mattson, Nathan R.;
- Ross, Christian A.;
- Taschuk, Morgan;
- Wieben, Eric D.;
- Wiepert, Mathieu;
- Wildman, Derek E.;
- Mainzer, Liudmila S.
Publication type:
Article
Conserved recurrent gene mutations correlate with pathway deregulation and clinical outcomes of lung adenocarcinoma in never-smokers.
Published in:
BMC Medical Genomics, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8794-7-32
By:
- Sun, Zhifu;
- Wang, Liang;
- Eckloff, Bruce W.;
- Bo Deng;
- Yi Wang;
- Wampfler, Jason A.;
- Jang, JinSung;
- Wieben, Eric D.;
- Jen, Jin;
- You, Ming;
- Yang, Ping
Publication type:
Article
Correction to: Recommendations for performance optimizations when using GATK3.8 and GATK4.
Published in:
2019
By:
- Heldenbrand, Jacob R.;
- Baheti, Saurabh;
- Bockol, Matthew A.;
- Drucker, Travis M.;
- Hart, Steven N.;
- Hudson, Matthew E.;
- Iyer, Ravishankar K.;
- Kalmbach, Michael T.;
- Kendig, Katherine I.;
- Klee, Eric W.;
- Mattson, Nathan R.;
- Wieben, Eric D.;
- Wiepert, Mathieu;
- Wildman, Derek E.;
- Mainzer, Liudmila S.
Publication type:
Correction Notice
Recommendations for performance optimizations when using GATK3.8 and GATK4.
Published in:
BMC Bioinformatics, 2019, v. 20, p. 1, doi. 10.1186/s12859-019-3169-7
By:
- Heldenbrand, Jacob R;
- Baheti, Saurabh;
- Bockol, Matthew A;
- Drucker, Travis M;
- Hart, Steven N;
- Hudson, Matthew E;
- Iyer, Ravishankar K;
- Kalmbach, Michael T;
- Kendig, Katherine I;
- Klee, Eric W;
- Mattson, Nathan R;
- Wieben, Eric D;
- Wiepert, Mathieu;
- Wildman, Derek E;
- Mainzer, Liudmila S
Publication type:
Article
PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations.
Published in:
PLoS Computational Biology, 2014, v. 10, n. 1, p. 1, doi. 10.1371/journal.pcbi.1003440
By:
- Bendl, Jaroslav;
- Stourac, Jan;
- Salanda, Ondrej;
- Pavelka, Antonin;
- Wieben, Eric D.;
- Zendulka, Jaroslav;
- Brezovsky, Jan;
- Damborsky, Jiri
Publication type:
Article
ϵγ-Thalassemia, a New Hemoglobinopathy Category.
Published in:
Clinical Chemistry, 2023, v. 69, n. 7, p. 711, doi. 10.1093/clinchem/hvad038
By:
- Oliveira, Jennifer L.;
- Thompson, Christineil H.;
- Saravanaperumal, Siva Arumugam;
- Koganti, Tejaswi;
- Jenkinson, Garrett;
- Hein, Molly S.;
- Kohorst, Mira A.;
- Hasadsri, Linda;
- Nguyen, Phuong L.;
- Matern, Dietrich;
- Kipp, Benjamin R.;
- Klee, Eric W.;
- Wieben, Eric D.;
- Hoyer, James D.;
- Rangan, Aruna
Publication type:
Article
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.
Published in:
Journal of Clinical Immunology, 2018, v. 38, n. 3, p. 307, doi. 10.1007/s10875-018-0499-6
By:
- Cousin, Margot A.;
- Smith, Matthew J.;
- Sigafoos, Ashley N.;
- Jin, Jay J.;
- Murphree, Marine I.;
- Boczek, Nicole J.;
- Blackburn, Patrick R.;
- Oliver, Gavin R.;
- Aleff, Ross A.;
- Clark, Karl J.;
- Wieben, Eric D.;
- Joshi, Avni Y.;
- Pichurin, Pavel N.;
- Abraham, Roshini S.;
- Klee, Eric W.
Publication type:
Article
Dok-7 myasthenia: Phenotypic and molecular genetic studies in 16 patients.
Published in:
Annals of Neurology, 2008, v. 64, n. 1, p. 71, doi. 10.1002/ana.21408
By:
- Selcen, Duygu;
- Milone, Margherita;
- Shen, Xin-Ming;
- Harper, C. Michel;
- Stans, Anthony A.;
- Wieben, Eric D.;
- Engel, Andrew G.
Publication type:
Article
Serine hydroxymethyltransferase 1 and 2: gene sequence variation and functional genomic characterization.
Published in:
Journal of Neurochemistry, 2012, v. 120, n. 6, p. 881, doi. 10.1111/j.1471-4159.2012.07646.x
By:
- Hebbring, Scott J.;
- Chai, Yubo;
- Ji, Yuan;
- Abo, Ryan P.;
- Jenkins, Gregory D.;
- Fridley, Brooke;
- Zhang, Jianping;
- Eckloff, Bruce W.;
- Wieben, Eric D.;
- Weinshilboum, Richard M.
Publication type:
Article
Human S-adenosylhomocysteine hydrolase: common gene sequence variation and functional genomic characterization.
Published in:
Journal of Neurochemistry, 2009, v. 110, n. 6, p. 1806, doi. 10.1111/j.1471-4159.2009.06276.x
By:
- Qiping Feng;
- Keshtgarpour, Mani;
- Pelleymounter, Linda L.;
- Moon, Irene;
- Kalari, Krishna R.;
- Eckloff, Bruce W.;
- Wieben, Eric D.;
- Weinshilboum, Richard M.
Publication type:
Article
TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 21, p. 5793, doi. 10.1093/hmg/ddu297
By:
- Theis, Jeanne L.;
- Zimmermann, Michael T.;
- Larsen, Brandon T.;
- Rybakova, Inna N.;
- Long, Pamela A.;
- Evans, Jared M.;
- Middha, Sumit;
- de Andrade, Mariza;
- Moss, Richard L.;
- Wieben, Eric D.;
- Michels, Virginia V.;
- Olson, Timothy M.
Publication type:
Article
Mutational Landscapes of Sequential Prostate Metastases and Matched Patient Derived Xenografts during Enzalutamide Therapy.
Published in:
PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0145176
By:
- Kohli, Manish;
- Wang, Liguo;
- Xie, Fang;
- Sicotte, Hugues;
- Yin, Ping;
- Dehm, Scott M.;
- Hart, Steven N.;
- Vedell, Peter T.;
- Barman, Poulami;
- Qin, Rui;
- Mahoney, Douglas W.;
- Carlson, Rachel E.;
- Eckel-Passow, Jeanette E.;
- Atwell, Thomas D.;
- Eiken, Patrick W.;
- McMenomy, Brendan P.;
- Wieben, Eric D.;
- Jha, Gautam;
- Jimenez, Rafael E.;
- Weinshilboum, Richard
Publication type:
Article
Identification of Possible Risk Variants of Familial Strabismus Using Exome Sequencing Analysis.
Published in:
Genes, 2021, v. 12, n. 1, p. 75, doi. 10.3390/genes12010075
By:
- An, Joon-Yong;
- Jung, Jae Ho;
- Choi, Leejee;
- Wieben, Eric D.;
- Mohney, Brian G.
Publication type:
Article
Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy.
Published in:
PLoS ONE, 2019, v. 14, n. 7, p. 1, doi. 10.1371/journal.pone.0219446
By:
- Wieben, Eric D.;
- Aleff, Ross A.;
- Basu, Shubham;
- Sarangi, Vivekananda;
- Bowman, Brett;
- McLaughlin, Ian J.;
- Mills, John R.;
- Butz, Malinda L.;
- Highsmith, Edward W.;
- Ida, Cristiane M.;
- Ekholm, Jenny M.;
- Baratz, Keith H.;
- Fautsch, Michael P.
Publication type:
Article
Gene expression in the corneal endothelium of Fuchs endothelial corneal dystrophy patients with and without expansion of a trinucleotide repeat in TCF4.
Published in:
PLoS ONE, 2018, v. 13, n. 7, p. 1, doi. 10.1371/journal.pone.0200005
By:
- Wieben, Eric D.;
- Aleff, Ross A.;
- Tang, Xiaojia;
- Kalari, Krishna R.;
- Maguire, Leo J.;
- Patel, Sanjay V.;
- Baratz, Keith H.;
- Fautsch, Michael P.
Publication type:
Article
Human phenylethanolamine N-methyltransferase pharmacogenomics: gene re-sequencing and functional genomics.
Published in:
Journal of Neurochemistry, 2005, v. 95, n. 6, p. 1766, doi. 10.1111/j.1471-4159.2005.03453.x
By:
- Yuan Ji;
- Salavaggione, Oreste E.;
- Liewei Wang;
- Adjei, Araba A.;
- Eckloff, Bruce;
- Wieben, Eric D.;
- Weinshilboum, Richard M.
Publication type:
Article
Human catecholamine sulfotransferase (SULT1A3) pharmacogenetics: functional genetic polymorphism.
Published in:
Journal of Neurochemistry, 2003, v. 87, n. 4, p. 809, doi. 10.1046/j.1471-4159.2003.02027.x
By:
- Thomae, Bianca A.;
- Rifki, Oktay F.;
- Theobald, Michelle A.;
- Eckloff, Bruce W.;
- Wieben, Eric D.;
- Weinshilboum, Richard M.
Publication type:
Article
Myosin individualized: single nucleotidepolymorphisms in energy transduction.
Published in:
BMC Genomics, 2010, v. 11, p. 172, doi. 10.1186/1471-2164-11-172
By:
- Burghardt, Thomas P.;
- Neff, Kevin L.;
- Wieben, Eric D.;
- Ajtai, Katalin
Publication type:
Article

Found: 34