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Publications

2012
SINE retrotransposons cause epigenetic reprogramming of adjacent gene promoters., Estécio, Marcos R. H., Gallegos Juan, Dekmezian Mhair, Lu Yue, Liang Shoudan, and Issa Jean-Pierre J. , Molecular cancer research : MCR, 2012 Oct, Volume 10, Issue 10, p.1332-42, (2012) Abstract
Identical genomic organization of two hemichordate hox clusters., Freeman, Robert, Ikuta Tetsuro, Wu Michael, Koyanagi Ryo, Kawashima Takeshi, Tagawa Kunifumi, Humphreys Tom, Fang Guang-Chen, Fujiyama Asao, Saiga Hidetoshi, et al. , Current biology : CB, 2012 Nov 6, Volume 22, Issue 21, p.2053-8, (2012) Abstract
Atypical angiopoietin-like protein that regulates ANGPTL3., Quagliarini, Fabiana, Wang Yan, Kozlitina Julia, Grishin Nick V., Hyde Rhonda, Boerwinkle Eric, Valenzuela David M., Murphy Andrew J., Cohen Jonathan C., and Hobbs Helen H. , Proceedings of the National Academy of Sciences of the United States of America, 2012 Nov 27, Volume 109, Issue 48, p.19751-6, (2012) Abstract
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes., Biankin, Andrew V., Waddell Nicola, Kassahn Karin S., Gingras Marie-Claude, Muthuswamy Lakshmi B., Johns Amber L., Miller David K., Wilson Peter J., Patch Ann-Marie, Wu Jianmin, et al. , Nature, 2012 Nov 15, Volume 491, Issue 7424, p.399-405, (2012) Abstract
An integrated map of genetic variation from 1,092 human genomes., Abecasis, Goncalo R., Auton Adam, Brooks Lisa D., DePristo Mark A., Durbin Richard M., Handsaker Robert E., Kang Hyun Min, Marth Gabor T., and McVean Gil A. , Nature, 2012 Nov 1, Volume 491, Issue 7422, p.56-65, (2012) Abstract
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms., Campeau, Philippe M., Lu James T., Dawson Brian C., Fokkema Ivo F. A. C., Robertson Stephen P., Gibbs Richard A., and Lee Brendan H. , Human mutation, 2012 Nov, Volume 33, Issue 11, p.1520-5, (2012) Abstract
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm., Doyle, Alexander J., Doyle Jefferson J., Bessling Seneca L., Maragh Samantha, Lindsay Mark E., Schepers Dorien, Gillis Elisabeth, Mortier Geert, Homfray Tessa, Sauls Kimberly, et al. , Nature genetics, 2012 Nov, Volume 44, Issue 11, p.1249-54, (2012) Abstract
WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype., Bacino, Carlos A., Dhar Shweta U., Brunetti-Pierri Nicola, Lee Brendan, and Bonnen Penelope E. , American journal of medical genetics. Part A, 2012 Nov, Volume 158A, Issue 11, p.2917-24, (2012) Abstract
Patterns and rates of exonic de novo mutations in autism spectrum disorders., Neale, Benjamin M., Kou Yan, Liu Li, Ma'ayan Avi, Samocha Kaitlin E., Sabo Aniko, Lin Chiao-Feng, Stevens Christine, Wang Li-San, Makarov Vladimir, et al. , Nature, 2012 May 10, Volume 485, Issue 7397, p.242-5, (2012) Abstract
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
Biological characterization and next-generation genome sequencing of the unclassified Cotia virus SPAn232 (Poxviridae)., Afonso, Priscila P., Silva Patrícia M., Schnellrath Laila C., Jesus Desyreé M., Hu Jianhong, Yang Yajie, Renne Rolf, Attias Marcia, Condit Richard C., Moussatché Nissin, et al. , Journal of virology, 2012 May, Volume 86, Issue 9, p.5039-54, (2012) Abstract
Genomics: Gorilla gorilla gorilla., Gibbs, Richard A., and Rogers Jeffrey , Nature, 2012 Mar 8, Volume 483, Issue 7388, p.164-5, (2012)
Leptin mediates tumor-stromal interactions that promote the invasive growth of breast cancer cells., Barone, Ines, Catalano Stefania, Gelsomino Luca, Marsico Stefania, Giordano Cinzia, Panza Salvatore, Bonofiglio Daniela, Bossi Gianluca, Covington Kyle R., Fuqua Suzanne A. W., et al. , Cancer research, 2012 Mar 15, Volume 72, Issue 6, p.1416-27, (2012) Abstract
Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes., Hughes, Jennifer F., Skaletsky Helen, Brown Laura G., Pyntikova Tatyana, Graves Tina, Fulton Robert S., Dugan Shannon, Ding Yan, Buhay Christian J., Kremitzki Colin, et al. , Nature, 2012 Mar 1, Volume 483, Issue 7387, p.82-6, (2012) Abstract
Genomic sequencing of key genes in mouse pancreatic cancer cells., Wang, Y., Zhang Y., Yang J., Ni X., Liu S., Li Z., Hodges S. E., Fisher W. E., Brunicardi F. C., Gibbs R. A., et al. , Current molecular medicine, 2012 Mar, Volume 12, Issue 3, p.331-41, (2012) Abstract
WDR62 missense mutation in a consanguineous family with primary microcephaly., Bacino, Carlos A., Arriola Luis A., Wiszniewska Joanna, and Bonnen Penelope E. , American journal of medical genetics. Part A, 2012 Mar, Volume 158A, Issue 3, p.622-5, (2012) Abstract
A framework for human microbiome research., , Nature, 2012 Jun 14, Volume 486, Issue 7402, p.215-21, (2012) Abstract
Structure, function and diversity of the healthy human microbiome., , Nature, 2012 Jun 14, Volume 486, Issue 7402, p.207-14, (2012) Abstract
Genetic contributions to the midsagittal area of the corpus callosum., Phillips, Kimberley A., Rogers Jeffrey, Barrett Elizabeth A., Glahn David C., and Kochunov Peter , Twin research and human genetics : the official journal of the International Society for Twin Studies, 2012 Jun, Volume 15, Issue 3, p.315-23, (2012) Abstract
Genome-wide single nucleotide polymorphism arrays as a diagnostic tool in patients with synchronous endometrial and ovarian cancer., Ikeda, Yuji, Oda Katsutoshi, Nakagawa Shunsuke, Murayama-Hosokawa Satsuki, Yamamoto Shogo, Ishikawa Shumpei, Wang Linghua, Takazawa Yutaka, Maeda Daichi, Wada-Hiraike Osamu, et al. , International journal of gynecological cancer : official journal of the International Gynecological Cancer Society, 2012 Jun, Volume 22, Issue 5, p.725-31, (2012) Abstract
High throughput sequencing methods for microbiome profiling: application to food animal systems., Highlander, Sarah K. , Animal health research reviews / Conference of Research Workers in Animal Diseases, 2012 Jun, Volume 13, Issue 1, p.40-53, (2012) Abstract
Comprehensive molecular characterization of human colon and rectal cancer., Shinbrot, Eve , Nature, 2012 Jul 19, Volume 487, Issue 7407, p.330-7, (2012) Abstract
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura., Lotta, Luca A., Wu Haifeng M., Mackie Ian J., Noris Marina, Veyradier Agnes, Scully Marie A., Remuzzi Giuseppe, Coppo Paul, Liesner Ri, Donadelli Roberta, et al. , Blood, 2012 Jul 12, Volume 120, Issue 2, p.440-8, (2012) Abstract
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions., Bamshad, Michael J., Shendure Jay A., Valle David, Hamosh Ada, Lupski James R., Gibbs Richard A., Boerwinkle Eric, Lifton Richard P., Gerstein Mark, Gunel Murat, et al. , American journal of medical genetics. Part A, 2012 Jul, Volume 158A, Issue 7, p.1523-5, (2012) Abstract


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