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Journal Article
The 1000 Genomes Project: data management and community access., Clarke, Laura, Zheng-Bradley Xiangqun, Smith Richard, Kulesha Eugene, Xiao Chunlin, Toneva Iliana, Vaughan Brendan, Preuss Don, Leinonen Rasko, Shumway Martin, et al. , Nature methods, 2012 May, Volume 9, Issue 5, p.459-62, (2012) Abstract
130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus., Timms, K. M., Lu F., Shen Y., Pierson C. A., Muzny D. M., Gu Y., Nelson D. L., and Gibbs R. A. , Genome research, 1995 Aug, Volume 5, Issue 1, p.71-8, (1995) Abstract
28-way vertebrate alignment and conservation track in the UCSC Genome Browser., Miller, Webb, Rosenbloom Kate, Hardison Ross C., Hou Minmei, Taylor James, Raney Brian, Burhans Richard, King David C., Baertsch Robert, Blankenberg Daniel, et al. , Genome research, 2007 Dec, Volume 17, Issue 12, p.1797-808, (2007) Abstract
The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer., Pomerantz, Mark M., Ahmadiyeh Nasim, Jia Li, Herman Paula, Verzi Michael P., Doddapaneni Harshavardhan, Beckwith Christine A., Chan Jennifer A., Hills Adam, Davis Matt, et al. , Nature genetics, 2009 Aug, Volume 41, Issue 8, p.882-4, (2009) Abstract
Advances in translational bioinformatics facilitate revealing the landscape of complex disease mechanisms., Yang, Jack Y., Dunker A., Liu Jun S., Qin Xiang, Arabnia Hamid R., Yang William, Niemierko Andrzej, Chen Zhongxue, Luo Zuojie, Wang Liangjiang, et al. , BMC bioinformatics, 2014, Volume 15 Suppl 17, p.I1, (2014) Abstract
Adverse outcomes in clear cell renal cell carcinoma with mutations of 3p21 epigenetic regulators BAP1 and SETD2: a report by MSKCC and the KIRC TCGA research network., Hakimi, Ari A., Ostrovnaya Irina, Reva Boris, Schultz Nikolaus, Chen Ying-Bei, Gonen Mithat, Liu Han, Takeda Shugaku, Voss Martin H., Tickoo Satish K., et al. , Clinical cancer research : an official journal of the American Association for Cancer Research, 2013 Jun 15, Volume 19, Issue 12, p.3259-67, (2013) Abstract
Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome., Naves, Luciana A., Daly Adrian F., Dias Luiz Augusto, Yuan Bo, Zakir Juliano Coelho Oliveira, Barra Gustavo Barcellos, Palmeira Leonor, Villa Chiara, Trivellin Giampaolo, Júnior Armindo Jreige, et al. , Endocrine, 2015 Nov 25, (2015) Abstract
An allylic/acyclic adenosine nucleoside triphosphate for termination of DNA synthesis by DNA template-dependent polymerases., Martinez, C. I., Thoresen L. H., Gibbs R. A., and Burgess K. , Nucleic acids research, 1999 Mar 1, Volume 27, Issue 5, p.1271-4, (1999) Abstract
Altered neuronal network and rescue in a human MECP2 duplication model., Nageshappa, S., Carromeu C., Trujillo C. A., Mesci P., Espuny-Camacho I., Pasciuto E., Vanderhaeghen P., Verfaillie C. M., Raitano S., Kumar A., et al. , Molecular psychiatry, 2015 Sep 8, (2015) Abstract
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency., Zhang, Y., Dipple K. M., Vilain E., Huang B. L., Finlayson G., Therrell B. L., Worley K., Deininger P., and McCabe E. R. , Human mutation, 2000, Volume 15, Issue 4, p.316-23, (2000) Abstract
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome., Margulies, Elliott H., Cooper Gregory M., Asimenos George, Thomas Daryl J., Dewey Colin N., Siepel Adam, Birney Ewan, Keefe Damian, Schwartz Ariel S., Hou Minmei, et al. , Genome research, 2007 Jun, Volume 17, Issue 6, p.760-74, (2007) Abstract
Androgen receptor promotes tamoxifen agonist activity by activation of EGFR in ERα-positive breast cancer., Ciupek, Andrew, Rechoum Yassine, Gu Guowei, Gelsomino Luca, Beyer Amanda R., Brusco Lauren, Covington Kyle R., Tsimelzon Anna, and Fuqua Suzanne A. W. , Breast cancer research and treatment, 2015 Oct 20, (2015) Abstract
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes., Appadurai, Vivek, DeBarber Andrea, Chiang Pei-Wen, Patel Shailendra B., Steiner Robert D., Tyler Charles, and Bonnen Penelope E. , Molecular genetics and metabolism, 2015 Oct 26, (2015) Abstract
Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species., Bradnam, Keith R., Fass Joseph N., Alexandrov Anton, Baranay Paul, Bechner Michael, Birol Inanç, Boisvert Sébastien, Chapman Jarrod A., Chapuis Guillaume, Chikhi Rayan, et al. , GigaScience, 2013 Jul 22, Volume 2, Issue 1, p.10, (2013) Abstract
Association between somatostatin receptor 5 gene polymorphisms and pancreatic cancer risk and survival., Li, Donghui, Tanaka Motofumi, Brunicardi Charles F., Fisher William E., Gibbs Richard A., and Gingras Marie-Claude , Cancer, 2011 Jul 1, Volume 117, Issue 13, p.2863-72, (2011) Abstract
Association of exome sequences with plasma C-reactive protein levels in >9000 participants, Schick, U. M., Auer P. L., Bis J. C., Lin H., Wei P., Pankratz N., Lange L. A., Brody J., Stitziel N. O., Kim D. S., et al. , Human Molecular Genetics, (2014)
Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies., Yu, Bing, Barbalic Maja, Brautbar Ariel, Nambi Vijay, Hoogeveen Ron C., Tang Weihong, Mosley Thomas H., Rotter Jerome I., deFilippi Christopher R., O'Donnell Christopher J., et al. , Circulation. Cardiovascular genetics, 2013 Feb, Volume 6, Issue 1, p.82-8, (2013) Abstract
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks., Peloso, Gina M., Auer Paul L., Bis Joshua C., Voorman Arend, Morrison Alanna C., Stitziel Nathan O., Brody Jennifer A., Khetarpal Sumeet A., Crosby Jacy R., Fornage Myriam, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.223-32, (2014) Abstract
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease., Ueda, Hironori, Howson Joanna M. M., Esposito Laura, Heward Joanne, Snook Hywel, Chamberlain Giselle, Rainbow Daniel B., Hunter Kara M. D., Smith Annabel N., Di Genova Gianfranco, et al. , Nature, 2003 May 29, Volume 423, Issue 6939, p.506-11, (2003) Abstract
A BAC-based physical map of the major autosomes of Drosophila melanogaster., Hoskins, R. A., Nelson C. R., Berman B. P., Laverty T. R., George R. A., Ciesiolka L., Naeemuddin M., Arenson A. D., Durbin J., David R. G., et al. , Science (New York, N.Y.), 2000 Mar 24, Volume 287, Issue 5461, p.2271-4, (2000) Abstract
Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium., Grove, Megan L., Yu Bing, Cochran Barbara J., Haritunians Talin, Bis Joshua C., Taylor Kent D., Hansen Mark, Borecki Ingrid B., Cupples Adrienne L., Fornage Myriam, et al. , PloS one, 2013, Volume 8, Issue 7, p.e68095, (2013) Abstract
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability., Stray-Pedersen, Asbjørg, Cobben Jan-Maarten, Prescott Trine E., Lee Sora, Cang Chunlei, Aranda Kimberly, Ahmed Sohnee, Alders Marielle, Gerstner Thorsten, Aslaksen Kathinka, et al. , American journal of human genetics, 2015 Dec 16, (2015) Abstract
The Cancer Genome Atlas Pan-Cancer analysis project., Chang, Kyle, Creighton Chad J., Davis Caleb F., Donehower Lawrence, Drummond Jennifer, Wheeler David, Ally Adrian, Balasundaram Miruna, Birol Inanc, Butterfield Yaron S. N., et al. , Nature genetics, 2013 Sep 26, Volume 45, Issue 10, p.1113-20, (2013)
A catalog of reference genomes from the human microbiome., Nelson, Karen E., Weinstock George M., Highlander Sarah K., Worley Kim C., Creasy Heather Huot, Wortman Jennifer Russo, Rusch Douglas B., Mitreva Makedonka, Sodergren Erica, Chinwalla Asif T., et al. , Science (New York, N.Y.), 2010 May 21, Volume 328, Issue 5981, p.994-9, (2010) Abstract
Characterization of cryptic flagellin genes in Shigella boydii and Shigella dysenteriae., Tominaga, A., Mahmoud M. A., Al Mamun A. A., and Mukaihara T. , Genes & genetic systems, 2001 Apr, Volume 76, Issue 2, p.111-20, (2001) Abstract

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