检索结果 - Lewis, Lora

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders 由 Schaaf, 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 Y.

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Exome sequencing of ion channel genes reveals complex variant profiles confounding personal risk assessment in epilepsy 由 Klassen, Tara, Davis, Caleb, Goldman, Alica, Burgess, Dan, Chen, Tim, Wheeler, David, McPherson, John, Bourquin, Traci, Lewis, Lora, Villasana, Donna, Morgan, Margaret, Muzny, Donna, Gibbs, Richard, Noebels, Jeffrey

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Identification of Genetic Susceptibility to Childhood Cancer through Analysis of Genes in Parallel 由 Plon, Sharon E., Wheeler, David A., Strong, Louise C., Tomlinson, Gail E., Pirics, Michael, Meng, Qingchang, Cheung, Hannah C., Begin, Phyllis R., Muzny, Donna M., Lewis, Lora, Biegel, Jaclyn A., Gibbs, Richard A.

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Deep Resequencing and Association Analysis of Schizophrenia Candidate Genes 由 Crowley, James J., Hilliard, Christopher E., Kim, Yunjung, Morgan, Margaret B., Lewis, Lora R., Muzny, Donna M., Hawes, Alicia C., Sabo, Aniko, Wheeler, David A., Lieberman, Jeffrey A., Sullivan, Patrick F., Gibbs, Richard A.

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Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRα gene in the X chromosome pseudoautosomal region 1 由 Martinez-Moczygemba, Margarita, Doan, Minh L., Elidemir, Okan, Fan, Leland L., Cheung, Sau Wai, Lei, Jonathan T., Moore, James P., Tavana, Ghamartaj, Lewis, Lora R., Zhu, Yiming, Muzny, Donna M., Gibbs, Richard A., Huston, David P.

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Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes 由 Lotta, 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, Flora

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Genomic profiling of pediatric acute myeloid leukemia reveals a changing mutational landscape from disease diagnosis to relapse 由 Farrar, Jason E., Schuback, Heather L., Ries, Rhonda E., Wai, Daniel, Hampton, Oliver A., Trevino, Lisa R., Alonzo, Todd A., Guidry Auvil, Jaime M., Davidsen, Tanja M., Gesuwan, Patee, Hermida, Leandro, Muzny, Donna M., Dewal, Ninad, Rustagi, Navin, Lewis, Lora R., Gamis, Alan S., Wheeler, David A., Smith, Malcolm A., Gerhard, Daniela S., Meshinchi, Soheil

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Novel somatic and germline mutations in intracranial germ cell tumors 由 Wang, 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 C.

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Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators 由 Bellott, 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 C.

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Deep resequencing reveals excess rare recent variants consistent with explosive population growth 由 Coventry, Alex, Bull-Otterson, Lara M., Liu, Xiaoming, Clark, Andrew G., Maxwell, Taylor J., Crosby, Jacy, Hixson, James E., Rea, Thomas J., Muzny, Donna M., Lewis, Lora R., Wheeler, David A., Sabo, Aniko, Lusk, Christine, Weiss, Kenneth G., Akbar, Humeira, Cree, Andrew, Hawes, Alicia C., Newsham, Irene, Varghese, Robin T., Villasana, Donna, Gross, Shannon, Joshi, Vandita, Santibanez, Jireh, Morgan, Margaret, Chang, Kyle, IV, Walker Hale, Templeton, Alan R., Boerwinkle, Eric, Gibbs, Richard, Sing, Charles F.

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Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls 由 Liu, Li, Sabo, Aniko, Neale, Benjamin M., Nagaswamy, Uma, Stevens, Christine, Lim, Elaine, Bodea, Corneliu A., Muzny, Donna, Reid, Jeffrey G., Banks, Eric, Coon, Hillary, DePristo, Mark, Dinh, Huyen, Fennel, Tim, Flannick, Jason, Gabriel, Stacey, Garimella, Kiran, Gross, Shannon, Hawes, Alicia, Lewis, Lora, Makarov, Vladimir, Maguire, Jared, Newsham, Irene, Poplin, Ryan, Ripke, Stephan, Shakir, Khalid, Samocha, Kaitlin E., Wu, Yuanqing, Boerwinkle, Eric, Buxbaum, Joseph D., Cook, Edwin H., Devlin, Bernie, Schellenberg, Gerard D., Sutcliffe, James S., Daly, Mark J., Gibbs, Richard A., Roeder, Kathryn

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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies 由 Khanna, Hemant, Davis, Erica E., Murga-Zamalloa, Carlos A., Estrada, Alejandro, Lopez, Irma, den Hollander, Anneke I., Zonneveld, Marijke N., Othman, Mohammad I., Waseem, Naushin, Chakarova, Christina F., Maubaret, Cecilia, Diaz-Font, Anna, MacDonald, Ian, Muzny, Donna M., Wheeler, David A., Morgan, Margaret, Lewis, Lora R., Logan, Clare V., Tan, Perciliz L., Beer, Michael A., Inglehearn, Chris F., Lewis, Richard A., Jacobson, Samuel G., Bergmann, Carsten, Beales, Philip L., Attié-Bitach, Tania, Johnson, Colin A., Otto, Edgar A., Bhattacharya, Shomi S., Hildebrandt, Friedhelm, Gibbs, Richard A., Koenekoop, Robert K., Swaroop, Anand, Katsanis, Nicholas

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Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders 由 Lim, Elaine T., Raychaudhuri, Soumya, Sanders, Stephan J., Stevens, Christine, Sabo, Aniko, MacArthur, Daniel G., Neale, Benjamin M., Kirby, Andrew, Ruderfer, Douglas M., Fromer, Menachem, Lek, Monkol, Liu, Li, Flannick, Jason, Ripke, Stephan, Nagaswamy, Uma, Muzny, Donna, Reid, Jeffrey G., Hawes, Alicia, Newsham, Irene, Wu, Yuanqing, Lewis, Lora, Dinh, Huyen, Gross, Shannon, Wang, Li-San, Lin, Chiao-Feng, Valladares, Otto, Gabriel, Stacey B., dePristo, Mark, Altshuler, David M., Purcell, Shaun M., State, Matthew W., Boerwinkle, Eric, Buxbaum, Joseph D., Cook, Edwin H., Gibbs, Richard A., Schellenberg, Gerard D., Sutcliffe, James S., Devlin, Bernie, Roeder, Kathryn, Daly, Mark J.

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Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma 由 Bainbridge, 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 L.

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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum 由 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, Reiger, 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 A., Katsanis, Nicholas

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Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines 由 Huang, 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.C.

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Patterns and rates of exonic de novo mutations in autism spectrum disorders 由 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, Polak, Paz, Yoon, Seungtai, Maguire, Jared, Crawford, Emily L., Campbell, Nicholas G., Geller, Evan T., Valladares, Otto, Shafer, Chad, Liu, Han, Zhao, Tuo, Cai, Guiqing, Lihm, Jayon, Dannenfelser, Ruth, Jabado, Omar, Peralta, Zuleyma, Nagaswamy, Uma, Muzny, Donna, Reid, Jeffrey G., Newsham, Irene, Wu, Yuanqing, Lewis, Lora, Han, Yi, Voight, Benjamin F., Lim, Elaine, Rossin, Elizabeth, Kirby, Andrew, Flannick, Jason, Fromer, Menachem, Shakir, Khalid, Fennell, Tim, Garimella, Kiran, Banks, Eric, Poplin, Ryan, Gabriel, Stacey, DePristo, Mark, Wimbish, Jack R., Boone, Braden E., Levy, Shawn E., Betancur, Catalina, Sunyaev, Shamil, Boerwinkle, Eric, Buxbaum, Joseph D., Cook, Edwin H., Devlin, Bernie, Gibbs, Richard A., Roeder, Kathryn, Schellenberg, Gerard D., Sutcliffe, James S., Daly, Mark J.

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Somatic mutations affect key pathways in lung adenocarcinoma 由 Ding, Li, Getz, Gad, Wheeler, David A., Mardis, Elaine R., McLellan, Michael D., Cibulskis, Kristian, Sougnez, Carrie, Greulich, Heidi, Muzny, Donna M., Morgan, Margaret B., Fulton, Lucinda, Fulton, Robert S., Zhang, Qunyuan, Wendl, Michael C., Lawrence, Michael S., Larson, David E., Chen, Ken, Dooling, David J., Sabo, Aniko, Hawes, Alicia C., Shen, Hua, Jhangiani, Shalini N., Lewis, Lora R., Hall, Otis, Zhu, Yiming, Mathew, Tittu, Ren, Yanru, Yao, Jiqiang, Scherer, Steven E., Clerc, Kerstin, Metcalf, Ginger A., Ng, Brian, Milosavljevic, Aleksandar, Gonzalez-Garay, Manuel L., Osborne, John R., Meyer, Rick, Shi, Xiaoqi, Tang, Yuzhu, Koboldt, Daniel C., Lin, Ling, Abbott, Rachel, Miner, Tracie L., Pohl, Craig, Fewell, Ginger, Haipek, Carrie, Schmidt, Heather, Dunford-Shore, Brian H., Kraja, Aldi, Crosby, Seth D., Sawyer, Christopher S., Vickery, Tammi, Sander, Sacha, Robinson, Jody, Winckler, Wendy, Baldwin, Jennifer, Chirieac, Lucian R., Dutt, Amit, Fennell, Tim, Hanna, Megan, Johnson, Bruce E., Onofrio, Robert C., Thomas, Roman K., Tonon, Giovanni, Weir, Barbara A., Zhao, Xiaojun, Ziaugra, Liuda, Zody, Michael C., Giordano, Thomas, Orringer, Mark B., Roth, Jack A., Spitz, Margaret R., Wistuba, Ignacio I., Ozenberger, Bradley, Good, Peter J., Chang, Andrew C., Beer, David G., Watson, Mark A., Ladanyi, Marc, Broderick, Stephen, Yoshizawa, Akihiko, Travis, William D., Pao, William, Province, Michael A., Weinstock, George M., Varmus, Harold E., Gabriel, Stacey B., Lander, Eric S., Gibbs, Richard A., Meyerson, Matthew, Wilson, Richard K.

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Gibbon genome and the fast karyotype evolution of small apes 由 Carbone, Lucia, Alan Harris, R., Gnerre, Sante, Veeramah, Krishna R., Lorente-Galdos, Belen, Huddleston, John, Meyer, Thomas J., Herrero, Javier, Roos, Christian, Aken, Bronwen, Anaclerio, Fabio, Archidiacono, Nicoletta, Baker, Carl, Barrell, Daniel, Batzer, Mark A., Beal, Kathryn, Blancher, Antoine, Bohrson, Craig L., Brameier, Markus, Campbell, Michael S., Capozzi, Oronzo, Casola, Claudio, Chiatante, Giorgia, Cree, Andrew, Damert, Annette, de Jong, Pieter J., Dumas, Laura, Fernandez-Callejo, Marcos, Flicek, Paul, Fuchs, Nina V., Gut, Ivo, Gut, Marta, Hahn, Matthew W., Hernandez-Rodriguez, Jessica, Hillier, LaDeana W., Hubley, Robert, Ianc, Bianca, Izsvák, Zsuzsanna, Jablonski, Nina G., Johnstone, Laurel M., Karimpour-Fard, Anis, Konkel, Miriam K., Kostka, Dennis, Lazar, Nathan H., Lee, Sandra L., Lewis, Lora R., Liu, Yue, Locke, Devin P., Mallick, Swapan, Mendez, Fernando L., Muffato, Matthieu, Nazareth, Lynne V., Nevonen, Kimberly A., O’Bleness, Majesta, Ochis, Cornelia, Odom, Duncan T., Pollard, Katherine S., Quilez, Javier, Reich, David, Rocchi, Mariano, Schumann, Gerald G., Searle, Stephen, Sikela, James M., Skollar, Gabriella, Smit, Arian, Sonmez, Kemal, Hallers, Boudewijn ten, Terhune, Elizabeth, Thomas, Gregg W. C., Ullmer, Brygg, Ventura, Mario, Walker, Jerilyn A., Wall, Jeffrey D., Walter, Lutz, Ward, Michelle C., Wheelan, Sarah J., Whelan, Christopher W., White, Simon, Wilhelm, Larry J., Woerner, August E., Yandell, Mark, Zhu, Baoli, Hammer, Michael F., Marques-Bonet, Tomas, Eichler, Evan E., Fulton, Lucinda, Fronick, Catrina, Muzny, Donna M., Warren, Wesley C., Worley, Kim C., Rogers, Jeffrey, Wilson, Richard K., Gibbs, Richard A.

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Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development 由 Renfree, Marilyn B, Papenfuss, Anthony T, Deakin, Janine E, Lindsay, James, Heider, Thomas, Belov, Katherine, Rens, Willem, Waters, Paul D, Pharo, Elizabeth A, Shaw, Geoff, Wong, Emily SW, Lefèvre, Christophe M, Nicholas, Kevin R, Kuroki, Yoko, Wakefield, Matthew J, Zenger, Kyall R, Wang, Chenwei, Ferguson-Smith, Malcolm, Nicholas, Frank W, Hickford, Danielle, Yu, Hongshi, Short, Kirsty R, Siddle, Hannah V, Frankenberg, Stephen R, Chew, Keng Yih, Menzies, Brandon R, Stringer, Jessica M, Suzuki, Shunsuke, Hore, Timothy A, Delbridge, Margaret L, Mohammadi, Amir, Schneider, Nanette Y, Hu, Yanqiu, O'Hara, William, Al Nadaf, Shafagh, Wu, Chen, Feng, Zhi-Ping, Cocks, Benjamin G, Wang, Jianghui, Flicek, Paul, Searle, Stephen MJ, Fairley, Susan, Beal, Kathryn, Herrero, Javier, Carone, Dawn M, Suzuki, Yutaka, Sugano, Sumio, Toyoda, Atsushi, Sakaki, Yoshiyuki, Kondo, Shinji, Nishida, Yuichiro, Tatsumoto, Shoji, Mandiou, Ion, Hsu, Arthur, McColl, Kaighin A, Lansdell, Benjamin, Weinstock, George, Kuczek, Elizabeth, McGrath, Annette, Wilson, Peter, Men, Artem, Hazar-Rethinam, Mehlika, Hall, Allison, Davis, John, Wood, David, Williams, Sarah, Sundaravadanam, Yogi, Muzny, Donna M, Jhangiani, Shalini N, Lewis, Lora R, Morgan, Margaret B, Okwuonu, Geoffrey O, Ruiz, San Juana, Santibanez, Jireh, Nazareth, Lynne, Cree, Andrew, Fowler, Gerald, Kovar, Christie L, Dinh, Huyen H, Joshi, Vandita, Jing, Chyn, Lara, Fremiet, Thornton, Rebecca, Chen, Lei, Deng, Jixin, Liu, Yue, Shen, Joshua Y, Song, Xing-Zhi, Edson, Janette, Troon, Carmen, Thomas, Daniel, Stephens, Amber, Yapa, Lankesha, Levchenko, Tanya, Gibbs, Richard A, Cooper, Desmond W, Speed, Terence P, Fujiyama, Asao, M Graves, Jennifer A, O'Neill, Rachel J, Pask, Andrew J, Forrest, Susan M, Worley, Kim C

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