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Publications

2012
Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence., Cejková, Darina, Zobaníková Marie, Chen Lei, Pospíšilová Petra, Strouhal Michal, Qin Xiang, Mikalová Lenka, Norris Steven J., Muzny Donna M., Gibbs Richard A., et al. , PLoS neglected tropical diseases, 2012 Jan, Volume 6, Issue 1, p.e1471, (2012) Abstract
The Drosophila melanogaster Genetic Reference Panel., Mackay, Trudy F. C., Richards Stephen, Stone Eric A., Barbadilla Antonio, Ayroles Julien F., Zhu Dianhui, Casillas Sònia, Han Yi, Magwire Michael M., Cridland Julie M., et al. , Nature, 2012 Feb 9, Volume 482, Issue 7384, p.173-8, (2012) Abstract
Cyanophora paradoxa genome elucidates origin of photosynthesis in algae and plants., Price, Dana C., Chan Cheong Xin, Yoon Hwan Su, Yang Eun Chan, Qiu Huan, Weber Andreas P. M., Schwacke Rainer, Gross Jeferson, Blouin Nicolas A., Lane Chris, et al. , Science (New York, N.Y.), 2012 Feb 17, Volume 335, Issue 6070, p.843-7, (2012) Abstract
A systematic survey of loss-of-function variants in human protein-coding genes., MacArthur, Daniel G., Balasubramanian Suganthi, Frankish Adam, Huang Ni, Morris James, Walter Klaudia, Jostins Luke, Habegger Lukas, Pickrell Joseph K., Montgomery Stephen B., et al. , Science (New York, N.Y.), 2012 Feb 17, Volume 335, Issue 6070, p.823-8, (2012) Abstract
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome., Campeau, Philippe M., Kim Jaeseung C., Lu James T., Schwartzentruber Jeremy A., Abdul-Rahman Omar A., Schlaubitz Silke, Murdock David M., Jiang Ming-Ming, Lammer Edward J., Enns Gregory M., et al. , American journal of human genetics, 2012 Feb 10, Volume 90, Issue 2, p.282-9, (2012) Abstract
Androgen receptor CAG repeat polymorphism in males of six non-human primate species., Mubiru, James N., Cavazos Nicole, Hemmat Peggah, Garcia-Forey Magdalena, Shade Robert E., and Rogers Jeffrey , Journal of medical primatology, 2012 Feb, Volume 41, Issue 1, p.67-70, (2012) Abstract
Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency., Wang, Linghua, Tsutsumi Shuichi, Kawaguchi Tokuichi, Nagasaki Koichi, Tatsuno Kenji, Yamamoto Shogo, Sang Fei, Sonoda Kohtaro, Sugawara Minoru, Saiura Akio, et al. , Genome research, 2012 Feb, Volume 22, Issue 2, p.208-19, (2012) Abstract
Deep sequencing of systematic combinatorial libraries reveals β-lactamase sequence constraints at high resolution., Deng, Zhifeng, Huang Wanzhi, Bakkalbasi Erol, Brown Nicholas G., Adamski Carolyn J., Rice Kacie, Muzny Donna, Gibbs Richard A., and Palzkill Timothy , Journal of molecular biology, 2012 Dec 7, Volume 424, Issue 3-4, p.150-67, (2012) Abstract
Identity and function of a large gene network underlying mutagenic repair of DNA breaks., Al Mamun, Abu Amar M., Lombardo Mary-Jane, Shee Chandan, Lisewski Andreas M., Gonzalez Caleb, Lin Dongxu, Nehring Ralf B., Saint-Ruf Claude, Gibson Janet L., Frisch Ryan L., et al. , Science (New York, N.Y.), 2012 Dec 7, Volume 338, Issue 6112, p.1344-8, (2012) Abstract
Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing., Powell, Bradford C., Jiang Lichun, Muzny Donna M., Treviño Lisa R., Dreyer Zoann E., Strong Louise C., Wheeler David A., Gibbs Richard A., and Plon Sharon E. , Pediatric blood & cancer, 2012 Dec 19, (2012) Abstract
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling., Chaki, Moumita, Airik Rannar, Ghosh Amiya K., Giles Rachel H., Chen Rui, Slaats Gisela G., Wang Hui, Hurd Toby W., Zhou Weibin, Cluckey Andrew, et al. , Cell, 2012 Aug 3, Volume 150, Issue 3, p.533-48, (2012) Abstract
Landscape of somatic retrotransposition in human cancers., Lee, Eunjung, Iskow Rebecca, Yang Lixing, Gokcumen Omer, Haseley Psalm, Luquette Lovelace J., Lohr Jens G., Harris Christopher C., Ding Li, Wilson Richard K., et al. , Science (New York, N.Y.), 2012 Aug 24, Volume 337, Issue 6097, p.967-71, (2012) Abstract
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm., Lindsay, Mark E., Schepers Dorien, Bolar Nikhita Ajit, Doyle Jefferson J., Gallo Elena, Fert-Bober Justyna, Kempers Marlies J. E., Fishman Elliot K., Chen Yichun, Myers Loretha, et al. , Nature genetics, 2012 Aug, Volume 44, Issue 8, p.922-7, (2012) Abstract
Microarray-based capture of novel expressed cell type-specific transfrags (CoNECT) to annotate tissue-specific transcription in Drosophila melanogaster., Hong, X., Doddapaneni H., Comeron J. M., Rodesch M. J., Halvensleben H. A., Nien C. Y., Bolei F., Metpally R., Richmond T. A., Albert T. J., et al. , G3 (Bethesda, Md.), 2012 Aug, Volume 2, Issue 8, p.873-82, (2012) Abstract
Population-based risk factors for elevated alanine aminotransferase in a South Texas Mexican-American population., Qu, Hui-Qi, Li Quan, Grove Megan L., Lu Yang, Pan Jen-Jung, Rentfro Anne R., Bickel Perry E., Fallon Michael B., Hanis Craig L., Boerwinkle Eric, et al. , Archives of medical research, 2012 Aug, Volume 43, Issue 6, p.482-8, (2012) Abstract
Comparative genomics of Ceriporiopsis subvermispora and Phanerochaete chrysosporium provide insight into selective ligninolysis., Fernandez-Fueyo, Elena, Ruiz-Dueñas Francisco J., Ferreira Patricia, Floudas Dimitrios, Hibbett David S., Canessa Paulo, Larrondo Luis F., James Tim Y., Seelenfreund Daniela, Lobos Sergio, et al. , Proceedings of the National Academy of Sciences of the United States of America, 2012 Apr 3, Volume 109, Issue 14, p.5458-63, (2012) Abstract
Serum prostate specific antigen changes in cynomolgus monkeys (Macaca fascicularis) on a high sugar high fat diet., Mubiru, James N., Garcia-Forey Magdalena, Cavazos Nicole, Hemmat Peggah, Dick Edward J., Owston Michael A., Bauer Cassondra A., Shade Robert E., and Rogers Jeffrey , The Prostate, 2012 Apr, Volume 72, Issue 5, p.469-75, (2012) Abstract
Ago HITS-CLIP expands understanding of Kaposi's sarcoma-associated herpesvirus miRNA function in primary effusion lymphomas., Haecker, Irina, Gay Lauren A., Yang Yajie, Hu Jianhong, Morse Alison M., McIntyre Lauren M., and Renne Rolf , PLoS pathogens, 2012, Volume 8, Issue 8, p.e1002884, (2012) Abstract
Analysis of microsatellite variation in Drosophila melanogaster with population-scale genome sequencing., Fondon, John W., Martin Andy, Richards Stephen, Gibbs Richard A., and Mittelman David , PloS one, 2012, Volume 7, Issue 3, p.e33036, (2012) Abstract
Atlas2 Cloud: a framework for personal genome analysis in the cloud., Evani, Uday S., Challis Danny, Yu Jin, Jackson Andrew R., Paithankar Sameer, Bainbridge Matthew N., Jakkamsetti Adinarayana, Pham Peter, Coarfa Cristian, Milosavljevic Aleksandar, et al. , BMC genomics, 2012, Volume 13 Suppl 6, p.S19, (2012) Abstract
Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms., Lu, James T., Wang Yi, Gibbs Richard A., and Yu Fuli , Genome biology, 2012, Volume 13, Issue 2, p.R15, (2012) Abstract
Complete genome sequence of Enterococcus faecium strain TX16 and comparative genomic analysis of Enterococcus faecium genomes., Qin, Xiang, Galloway-Peña Jessica R., Sillanpaa Jouko, Roh Jung Hyeob, Nallapareddy Sreedhar R., Chowdhury Shahreen, Bourgogne Agathe, Choudhury Tina, Muzny Donna M., Buhay Christian J., et al. , BMC microbiology, 2012, Volume 12, p.135, (2012) Abstract
Genomic and SNP analyses demonstrate a distant separation of the hospital and community-associated clades of Enterococcus faecium., Galloway-Peña, Jessica, Roh Jung Hyeob, Latorre Mauricio, Qin Xiang, and Murray Barbara E. , PloS one, 2012, Volume 7, Issue 1, p.e30187, (2012) Abstract
Human genome sequencing in health and disease., Gonzaga-Jauregui, Claudia, Lupski James R., and Gibbs Richard A. , Annual review of medicine, 2012, Volume 63, p.35-61, (2012) Abstract


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