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2012
Genome sequence of the button mushroom Agaricus bisporus reveals mechanisms governing adaptation to a humic-rich ecological niche., Morin, Emmanuelle, Kohler Annegret, Baker Adam R., Foulongne-Oriol Marie, Lombard Vincent, Nagy Laszlo G., Ohm Robin A., Patyshakuliyeva Aleksandrina, Brun Annick, Aerts Andrea L., et al. , Proceedings of the National Academy of Sciences of the United States of America, 2012 Oct 23, Volume 109, Issue 43, p.17501-6, (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
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
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
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
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
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
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
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
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
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
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
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
PDX-1 is a therapeutic target for pancreatic cancer, insulinoma and islet neoplasia using a novel RNA interference platform., Liu, Shi-He, Rao Donald D., Nemunaitis John, Senzer Neil, Zhou Guisheng, Dawson David, Gingras Marie-Claude, Wang Zhaohui, Gibbs Richard, Norman Michael, et al. , PloS one, 2012, Volume 7, Issue 8, p.e40452, (2012) Abstract
2011
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria., Murdock, David R., Clark Gary D., Bainbridge Matthew N., Newsham Irene, Wu Yuan-Qing, Muzny Donna M., Cheung Sau Wai, Gibbs Richard A., and Ramocki Melissa B. , American journal of medical genetics. Part A, 2011 Sep, Volume 155A, Issue 9, p.2071-7, (2011) Abstract
A high-resolution map of human evolutionary constraint using 29 mammals., Lindblad-Toh, Kerstin, Garber Manuel, Zuk Or, Lin Michael F., Parker Brian J., Washietl Stefan, Kheradpour Pouya, Ernst Jason, Jordan Gregory, Mauceli Evan, et al. , Nature, 2011 Oct 27, Volume 478, Issue 7370, p.476-82, (2011) Abstract
Interaction of folate intake and the paraoxonase Q192R polymorphism with risk of incident coronary heart disease and ischemic stroke: the atherosclerosis risk in communities study., Luu, Hung N., Kingah Pascal L., North Kari, Boerwinkle Eric, and Volcik Kelly A. , Annals of epidemiology, 2011 Nov, Volume 21, Issue 11, p.815-23, (2011) Abstract
Minimum information about a marker gene sequence (MIMARKS) and minimum information about any (x) sequence (MIxS) specifications., Yilmaz, Pelin, Kottmann Renzo, Field Dawn, Knight Rob, Cole James R., Amaral-Zettler Linda, Gilbert Jack A., Karsch-Mizrachi Ilene, Johnston Anjanette, Cochrane Guy, et al. , Nature biotechnology, 2011 May, Volume 29, Issue 5, p.415-20, (2011) Abstract
Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase., Sun, Tingting, Aceto Nicola, Meerbrey Kristen L., Kessler Jessica D., Zhou Chunshui, Migliaccio Ilenia, Nguyen Don X., Pavlova Natalya N., Botero Maria, Huang Jian, et al. , Cell, 2011 Mar 4, Volume 144, Issue 5, p.703-18, (2011) Abstract
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum., Davis, Erica E., Zhang Qi, Liu Qin, Diplas Bill H., Davey Lisa M., Hartley Jane, Stoetzel Corinne, Szymanska Katarzyna, Ramaswami Gokul, Logan Clare V., et al. , Nature genetics, 2011 Mar, Volume 43, Issue 3, p.189-96, (2011) Abstract
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy., Klassen, Tara, Davis Caleb F., Goldman Alica, Burgess Dan, Chen Tim, Wheeler David, McPherson John, Bourquin Traci, Lewis Lora, Villasana Donna, et al. , Cell, 2011 Jun 24, Volume 145, Issue 7, p.1036-48, (2011) Abstract


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