Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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Material Type: Artigo
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Mammalian Y chromosomes retain widely expressed dosage-sensitive regulatorsBellott, Daniel W ; Hughes, Jennifer F ; Skaletsky, Helen ; Brown, Laura G ; Pyntikova, Tatyana ; Cho, Ting-Jan ; Koutseva, Natalia ; Zaghlul, Sara ; Graves, Tina ; Rock, Susie ; Kremitzki, Colin ; Fulton, Robert S ; Dugan, Shannon ; Ding, Yan ; Morton, Donna ; Khan, Ziad ; Lewis, Lora ; Buhay, Christian ; Wang, Qiaoyan ; Watt, Jennifer ; Holder, Michael ; Lee, Sandy ; Nazareth, Lynne ; Alföldi, Jessica ; Rozen, Steve ; Muzny, Donna M ; Warren, Wesley C ; Gibbs, Richard A ; Wilson, Richard K ; Page, David CNature (London), 2014-04, Vol.508 (7497), p.494-499 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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2 |
Material Type: Artigo
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Pancreatic cancer genomes reveal aberrations in axon guidance pathway genesBIANKIN, Andrew V ; WADDELL, Nicola ; CHANG, David K ; COWLEY, Mark J ; GARDINER, Brooke B ; SONG, Sarah ; HARLIWONG, Ivon ; IDRISOGLU, Senel ; NOURSE, Craig ; NOURBAKHSH, Ehsan ; MANNING, Suzanne ; WANI, Shivangi ; KASSAHN, Karin S ; GONGORA, Milena ; PAJIC, Marina ; SCARIETT, Christopher J ; GILL, Anthony J ; PINHO, Andreia V ; ROOMAN, Ilse ; ANDERSON, Matthew ; HOMES, Oliver ; LEONARD, Conrad ; TAYLOR, Darrin ; GINGRAS, Marie-Claude ; WOOD, Scott ; QINYING XU ; NONES, Katia ; FINK, J. Lynn ; CHRIST, Angelika ; BRUXNER, Tim ; CLOONAN, Nicole ; KOLLE, Gabriel ; NEWELL, Felicity ; PINESE, Mark ; MUTHUSWAMY, Lakshmi B ; MEAD, R. Scott ; HUMPHRIS, Jeremy L ; KAPLAN, Warren ; JONES, Marc D ; COLVIN, Emily K ; NAGRIAL, Adnan M ; HUMPHREY, Emily S ; CHOU, Angela ; CHIN, Venessa T ; CHANTRILL, Lorraine A ; JOHNS, Amber L ; MAWSON, Amanda ; SAMRA, Jaswinder S ; KENCH, James G ; LOVELL, Jessica A ; DALY, Roger J ; MERRETT, Neil D ; TOON, Christopher ; EPARI, Krishna ; NGUYEN, Nam Q ; BARBOUR, Andrew ; MILLER, David K ; WILSON, Peter J ; PATCH, Ann-Marie ; JIANMIN WUNature (London), 2012-11, Vol.491 (7424), p.399-405 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel linesHuang, Wen ; Massouras, Andreas ; Inoue, Yutaka ; Peiffer, Jason ; Ràmia, Miquel ; Tarone, Aaron M ; Turlapati, Lavanya ; Zichner, Thomas ; Zhu, Dianhui ; Lyman, Richard F ; Magwire, Michael M ; Blankenburg, Kerstin ; Carbone, Mary Anna ; Chang, Kyle ; Ellis, Lisa L ; Fernandez, Sonia ; Han, Yi ; Highnam, Gareth ; Hjelmen, Carl E ; Jack, John R ; Javaid, Mehwish ; Jayaseelan, Joy ; Kalra, Divya ; Lee, Sandy ; Lewis, Lora ; Munidasa, Mala ; Ongeri, Fiona ; Patel, Shohba ; Perales, Lora ; Perez, Agapito ; Pu, LingLing ; Rollmann, Stephanie M ; Ruth, Robert ; Saada, Nehad ; Warner, Crystal ; Williams, Aneisa ; Wu, Yuan-Qing ; Yamamoto, Akihiko ; Zhang, Yiqing ; Zhu, Yiming ; Anholt, Robert R H ; Korbel, Jan O ; Mittelman, David ; Muzny, Donna M ; Gibbs, Richard A ; Barbadilla, Antonio ; Johnston, J Spencer ; Stone, Eric A ; Richards, Stephen ; Deplancke, Bart ; Mackay, Trudy F CGenome research, 2014-07, Vol.24 (7), p.1193-1208 [Periódico revisado por pares]United States: Cold Spring Harbor Laboratory PressTexto completo disponível |
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Material Type: Artigo
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Patterns and rates of exonic de novo mutations in autism spectrum disordersNEALE, Benjamin M ; YAN KOU ; POLAK, Paz ; YOON, Seungtai ; MAGUIRE, Jared ; CRAWFORD, Emily L ; CAMPBELL, Nicholas G ; GEHER, Evan T ; VALLADARES, Otto ; SCHAFER, Chad ; LIUL, Han ; TUO ZHAO ; LI LIU ; GUIQING CAI ; LIHM, Jayon ; DANNENFELSER, Ruth ; JABADO, Omar ; PERALTA, Zuleyma ; NAGASWAMY, Uma ; MUZNY, Donna ; REID, Jeffrey G ; NEWSHAM, Irene ; YUANQING WU ; MA'AYAN, Avi ; LEWIS, Lora ; YI HAN ; VOIGHT, Benjamin F ; LIM, Elaine ; ROSSIN, Elizabeth ; KIRBY, Andrew ; FLANNICK, Jason ; FROMER, Menachem ; SHAKIR, Khalid ; FENNELL, Tim ; SAMOCHA, Kaitlin E ; GARIMELLA, Kiran ; BANKS, Eric ; POPLIN, Ryan ; GABRIEL, Stacey ; DEPRISTO, Mark ; WIMBISH, Jack R ; BOONE, Braden E ; LEVY, Shawn E ; BETANCUR, Catalina ; SUNYAEV, Shamil ; SABO, Aniko ; BOERWINKLE, Eric ; BUXBAUM, Joseph D ; COOK, Edwin H ; DEVLIN, Bernie ; GIBBS, Richard A ; ROEDER, Kathryn ; SCHELLENBERG, Gerard D ; SUTCLIFFE, James S ; DALY, Mark J ; LIN, Chiao-Feng ; STEVENS, Christine ; WANG, Li-San ; MAKAROV, VladimirNature (London), 2012-05, Vol.485 (7397), p.242-245 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Novel somatic and germline mutations in intracranial germ cell tumoursWang, Linghua ; Yamaguchi, Shigeru ; Burstein, Matthew D ; Terashima, Keita ; Chang, Kyle ; Ng, Ho-Keung ; Nakamura, Hideo ; He, Zongxiao ; Doddapaneni, Harshavardhan ; Lewis, Lora ; Wang, Mark ; Suzuki, Tomonari ; Nishikawa, Ryo ; Natsume, Atsushi ; Terasaka, Shunsuke ; Dauser, Robert ; Whitehead, William ; Adekunle, Adesina ; Sun, Jiayi ; Qiao, Yi ; Marth, Gábor ; Muzny, Donna M ; Gibbs, Richard A ; Leal, Suzanne M ; Wheeler, David A ; Lau, Ching CNature (London), 2014-07, Vol.511 (7508), p.241-245 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genesLotta, Luca A ; Wang, Mark ; Yu, Jin ; Martinelli, Ida ; Yu, Fuli ; Passamonti, Serena M ; Consonni, Dario ; Pappalardo, Emanuela ; Menegatti, Marzia ; Scherer, Steven E ; Lewis, Lora L ; Akbar, Humeira ; Wu, Yuanqing ; Bainbridge, Matthew N ; Muzny, Donna M ; Mannucci, Pier M ; Gibbs, Richard A ; Peyvandi, FloraBMC medical genomics, 2012-02, Vol.5 (1), p.7-7, Article 7 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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7 |
Material Type: Artigo
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Germline mutations in shelterin complex genes are associated with familial gliomaBainbridge, Matthew N ; Armstrong, Georgina N ; Gramatges, M Monica ; Bertuch, Alison A ; Jhangiani, Shalini N ; Doddapaneni, Harsha ; Lewis, Lora ; Tombrello, Joseph ; Tsavachidis, Spyros ; Liu, Yanhong ; Jalali, Ali ; Plon, Sharon E ; Lau, Ching C ; Parsons, Donald W ; Claus, Elizabeth B ; Barnholtz-Sloan, Jill ; Il'yasova, Dora ; Schildkraut, Joellen ; Ali-Osman, Francis ; Sadetzki, Siegal ; Johansen, Christoffer ; Houlston, Richard S ; Jenkins, Robert B ; Lachance, Daniel ; Olson, Sara H ; Bernstein, Jonine L ; Merrell, Ryan T ; Wrensch, Margaret R ; Walsh, Kyle M ; Davis, Faith G ; Lai, Rose ; Shete, Sanjay ; Aldape, Kenneth ; Amos, Christopher I ; Thompson, Patricia A ; Muzny, Donna M ; Gibbs, Richard A ; Melin, Beatrice S ; Bondy, Melissa LJNCI : Journal of the National Cancer Institute, 2015-01, Vol.107 (1), p.384-384 [Periódico revisado por pares]United States: Oxford Publishing Limited (England)Texto completo disponível |
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8 |
Material Type: Artigo
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Hemichordate genomes and deuterostome originsSimakov, Oleg ; Kawashima, Takeshi ; Marlétaz, Ferdinand ; Jenkins, Jerry ; Koyanagi, Ryo ; Mitros, Therese ; Hisata, Kanako ; Bredeson, Jessen ; Shoguchi, Eiichi ; Gyoja, Fuki ; Yue, Jia-Xing ; Chen, Yi-Chih ; Freeman, Jr, Robert M ; Sasaki, Akane ; Hikosaka-Katayama, Tomoe ; Sato, Atsuko ; Fujie, Manabu ; Baughman, Kenneth W ; Levine, Judith ; Gonzalez, Paul ; Cameron, Christopher ; Fritzenwanker, Jens H ; Pani, Ariel M ; Goto, Hiroki ; Kanda, Miyuki ; Arakaki, Nana ; Yamasaki, Shinichi ; Qu, Jiaxin ; Cree, Andrew ; Ding, Yan ; Dinh, Huyen H ; Dugan, Shannon ; Holder, Michael ; Jhangiani, Shalini N ; Kovar, Christie L ; Lee, Sandra L ; Lewis, Lora R ; Morton, Donna ; Nazareth, Lynne V ; Okwuonu, Geoffrey ; Santibanez, Jireh ; Chen, Rui ; Richards, Stephen ; Muzny, Donna M ; Gillis, Andrew ; Peshkin, Leonid ; Wu, Michael ; Humphreys, Tom ; Su, Yi-Hsien ; Putnam, Nicholas H ; Schmutz, Jeremy ; Fujiyama, Asao ; Yu, Jr-Kai ; Tagawa, Kunifumi ; Worley, Kim C ; Gibbs, Richard A ; Kirschner, Marc W ; Lowe, Christopher J ; Satoh, Noriyuki ; Rokhsar, Daniel S ; Gerhart, JohnNature (London), 2015-11, Vol.527 (7579), p.459-465 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Oligogenic heterozygosity in individuals with high-functioning autism spectrum disordersSchaaf, Christian P ; Sabo, Aniko ; Sakai, Yasunari ; Crosby, Jacy ; Muzny, Donna ; Hawes, Alicia ; Lewis, Lora ; Akbar, Humeira ; Varghese, Robin ; Boerwinkle, Eric ; Gibbs, Richard A ; Zoghbi, Huda YHuman molecular genetics, 2011-09, Vol.20 (17), p.3366-3375 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumKatsanis, Nicholas ; Davis, Erica E ; Zhang, Qi ; Liu, Qin ; Diplas, Bill H ; Davey, Lisa M ; Hartley, Jane ; Stoetzel, Corinne ; Szymanska, Katarzyna ; Ramaswami, Gokul ; Logan, Clare V ; Muzny, Donna M ; Young, Alice C ; Wheeler, David A ; Cruz, Pedro ; Morgan, Margaret ; Lewis, Lora R ; Cherukuri, Praveen ; Maskeri, Baishali ; Hansen, Nancy F ; Mullikin, James C ; Blakesley, Robert W ; Bouffard, Gerard G ; Gyapay, Gabor ; Rieger, Susanne ; Tönshoff, Burkhard ; Kern, Ilse ; Soliman, Neveen A ; Neuhaus, Thomas J ; Swoboda, Kathryn J ; Kayserili, Hulya ; Gallagher, Tomas E ; Lewis, Richard A ; Bergmann, Carsten ; Otto, Edgar A ; Saunier, Sophie ; Scambler, Peter J ; Beales, Philip L ; Gleeson, Joseph G ; Maher, Eamonn R ; Attié-Bitach, Tania ; Dollfus, Hélène ; Johnson, Colin A ; Green, Eric D ; Gibbs, Richard A ; Hildebrandt, Friedhelm ; Pierce, Eric ANature genetics, 2011-03, Vol.43 (3), p.189-196 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |