17,550 results for Whole+Exome+Sequencing

17,550 results for Whole+Exome+Sequencing

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    Author / Creator:Wei, Jing ; Wu, Boyang Jason ; Daoud, Sayed S
    Publisher:MDPI AG
    Journal title:Genes, 2024-03, Vol.15 (3)
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    Author / Creator:Retterer, Kyle ; Juusola, Jane ; Cho, Megan T. ; Vitazka, Patrik ; Millan, Francisca ; Gibellini, Federica ; Vertino-Bell, Annette ; Smaoui, Nizar ; Neidich, Julie ; Monaghan, Kristin G. ; McKnight, Dianalee ; Bai, Renkui ; Suchy, Sharon ; Friedman, Bethany ; Tahiliani, Jackie ; Pineda-Alvarez, Daniel ; Richard, Gabriele ; Brandt, Tracy ; Haverfield, Eden ; Chung, Wendy K. ; Bale, Sherri
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2016-07, Vol.18 (7), p.696-704
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    Author / Creator:Yang, Yaping ; Muzny, Donna M ; Reid, Jeffrey G ; Bainbridge, Matthew N ; Willis, Alecia ; Ward, Patricia A ; Braxton, Alicia ; Beuten, Joke ; Xia, Fan ; Niu, Zhiyv ; Hardison, Matthew ; Person, Richard ; Bekheirnia, Mir Reza ; Leduc, Magalie S ; Kirby, Amelia ; Pham, Peter ; Scull, Jennifer ; Wang, Min ; Ding, Yan ; Plon, Sharon E ; Lupski, James R ; Beaudet, Arthur L ; Gibbs, Richard A ; Eng, Christine M
    Publisher:United States: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2013-10, Vol.369 (16), p.1502-1511
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    Author / Creator:Sanders, Stephan J. ; Murtha, Michael T. ; Gupta, Abha R. ; Murdoch, John D. ; Raubeson, Melanie J. ; Willsey, A. Jeremy ; Ercan-Sencicek, A. Gulhan ; DiLullo, Nicholas M. ; Parikshak, Neelroop N. ; Stein, Jason L. ; Walker, Michael F. ; Ober, Gordon T. ; Teran, Nicole A. ; Song, Youeun ; El-Fishawy, Paul ; Murtha, Ryan C. ; Choi, Murim ; Overton, John D. ; Bjornson, Robert D. ; Carriero, Nicholas J. ; Meyer, Kyle A. ; Bilguvar, Kaya ; Mane, Shrikant M. ; Šestan, Nenad ; Lifton, Richard P. ; Günel, Murat ; Roeder, Kathryn ; Geschwind, Daniel H. ; Devlin, Bernie ; State, Matthew W.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature (London), 2012-05, Vol.485 (7397), p.237-241
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    Author / Creator:Pronicka, Ewa ; Piekutowska-Abramczuk, Dorota ; Ciara, Elżbieta ; Trubicka, Joanna ; Rokicki, Dariusz ; Karkucińska-Więckowska, Agnieszka ; Pajdowska, Magdalena ; Jurkiewicz, Elżbieta ; Halat, Paulina ; Kosińska, Joanna ; Pollak, Agnieszka ; Rydzanicz, Małgorzata ; Stawinski, Piotr ; Pronicki, Maciej ; Krajewska-Walasek, Małgorzata ; Płoski, Rafał
    Publisher:England: BioMed Central Ltd
    Journal title:Journal of translational medicine, 2016-06, Vol.14 (1), p.174-174, Article 174
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    Author / Creator:Yu, Timothy W. ; Chahrour, Maria H. ; Coulter, Michael E. ; Jiralerspong, Sarn ; Okamura-Ikeda, Kazuko ; Ataman, Bulent ; Schmitz-Abe, Klaus ; Harmin, David A. ; Adli, Mazhar ; Malik, Athar N. ; D’Gama, Alissa M. ; Lim, Elaine T. ; Sanders, Stephan J. ; Mochida, Ganesh H. ; Partlow, Jennifer N. ; Sunu, Christine M. ; Felie, Jillian M. ; Rodriguez, Jacqueline ; Nasir, Ramzi H. ; Ware, Janice ; Joseph, Robert M. ; Hill, R. Sean ; Kwan, Benjamin Y. ; Al-Saffar, Muna ; Mukaddes, Nahit M. ; Hashmi, Asif ; Balkhy, Soher ; Gascon, Generoso G. ; Hisama, Fuki M. ; LeClair, Elaine ; Poduri, Annapurna ; Oner, Ozgur ; Al-Saad, Samira ; Al-Awadi, Sadika A. ; Bastaki, Laila ; Ben-Omran, Tawfeg ; Teebi, Ahmad S. ; Al-Gazali, Lihadh ; Eapen, Valsamma ; Stevens, Christine R. ; Rappaport, Leonard ; Gabriel, Stacey B. ; Markianos, Kyriacos ; State, Matthew W. ; Greenberg, Michael E. ; Taniguchi, Hisaaki ; Braverman, Nancy E. ; Morrow, Eric M. ; Walsh, Christopher A.
    Publisher:United States: Elsevier Inc
    Journal title:Neuron (Cambridge, Mass.), 2013-01, Vol.77 (2), p.259-273
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    Author / Creator:Lohr, Jens G ; Adalsteinsson, Viktor A ; Cibulskis, Kristian ; Choudhury, Atish D ; Rosenberg, Mara ; Cruz-Gordillo, Peter ; Francis, Joshua M ; Zhang, Cheng-Zhong ; Shalek, Alex K ; Satija, Rahul ; Trombetta, John J ; Lu, Diana ; Tallapragada, Naren ; Tahirova, Narmin ; Kim, Sora ; Blumenstiel, Brendan ; Sougnez, Carrie ; Lowe, Alarice ; Wong, Bang ; Auclair, Daniel ; Van Allen, Eliezer M ; Nakabayashi, Mari ; Lis, Rosina T ; Lee, Gwo-Shu M ; Li, Tiantian ; Chabot, Matthew S ; Ly, Amy ; Taplin, Mary-Ellen ; Clancy, Thomas E ; Loda, Massimo ; Regev, Aviv ; Meyerson, Matthew ; Hahn, William C ; Kantoff, Philip W ; Golub, Todd R ; Getz, Gad ; Boehm, Jesse S ; Love, J Christopher
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature biotechnology, 2014-05, Vol.32 (5), p.479-484
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    Author / Creator:Bis, Joshua C. ; Jian, Xueqiu ; Kunkle, Brian W. ; Chen, Yuning ; Hamilton-Nelson, Kara L. ; Bush, William S. ; Salerno, William J. ; Lancour, Daniel ; Ma, Yiyi ; Renton, Alan E. ; Marcora, Edoardo ; Farrell, John J. ; Zhao, Yi ; Qu, Liming ; Ahmad, Shahzad ; Amin, Najaf ; Amouyel, Philippe ; Beecham, Gary W. ; Below, Jennifer E. ; Campion, Dominique ; Cantwell, Laura ; Charbonnier, Camille ; Chung, Jaeyoon ; Crane, Paul K. ; Cruchaga, Carlos ; Cupples, L. Adrienne ; Dartigues, Jean-François ; Debette, Stéphanie ; Deleuze, Jean-François ; Fulton, Lucinda ; Gabriel, Stacey B. ; Genin, Emmanuelle ; Gibbs, Richard A. ; Goate, Alison ; Grenier-Boley, Benjamin ; Gupta, Namrata ; Haines, Jonathan L. ; Havulinna, Aki S. ; Helisalmi, Seppo ; Hiltunen, Mikko ; Howrigan, Daniel P. ; Ikram, M. Arfan ; Kaprio, Jaakko ; Konrad, Jan ; Kuzma, Amanda ; Lander, Eric S. ; Lathrop, Mark ; Lehtimäki, Terho ; Lin, Honghuang ; Mattila, Kari ; Mayeux, Richard ; Muzny, Donna M. ; Nasser, Waleed ; Neale, Benjamin ; Nho, Kwangsik ; Nicolas, Gaël ; Patel, Devanshi ; Pericak-Vance, Margaret A. ; Perola, Markus ; Psaty, Bruce M. ; Quenez, Olivier ; Rajabli, Farid ; Redon, Richard ; Reitz, Christiane ; Remes, Anne M. ; Salomaa, Veikko ; Sarnowski, Chloe ; Schmidt, Helena ; Schmidt, Michael ; Schmidt, Reinhold ; Soininen, Hilkka ; Thornton, Timothy A. ; Tosto, Giuseppe ; Tzourio, Christophe ; van der Lee, Sven J. ; van Duijn, Cornelia M. ; Valladares, Otto ; Vardarajan, Badri ; Wang, Li-San ; Wang, Weixin ; Wijsman, Ellen ; Wilson, Richard K. ; Witten, Daniela ; Worley, Kim C. ; Zhang, Xiaoling ; Bellenguez, Celine ; Lambert, Jean-Charles ; Kurki, Mitja I. ; Palotie, Aarno ; Daly, Mark ; Boerwinkle, Eric ; Lunetta, Kathryn L. ; Destefano, Anita L. ; Dupuis, Josée ; Martin, Eden R. ; Schellenberg, Gerard D. ; Seshadri, Sudha ; Naj, Adam C. ; Fornage, Myriam ; Farrer, Lindsay A.
    Publisher:London: Nature Publishing Group UK
    Journal title:Molecular psychiatry, 2020-08, Vol.25 (8), p.1859-1875
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    Author / Creator:Stephens, Philip J ; Davies, Helen R ; Mitani, Yoshitsugu ; Van Loo, Peter ; Shlien, Adam ; Tarpey, Patrick S ; Papaemmanuil, Elli ; Cheverton, Angela ; Bignell, Graham R ; Butler, Adam P ; Gamble, John ; Gamble, Stephen ; Hardy, Claire ; Hinton, Jonathan ; Jia, Mingming ; Jayakumar, Alagu ; Jones, David ; Latimer, Calli ; McLaren, Stuart ; McBride, David J ; Menzies, Andrew ; Mudie, Laura ; Maddison, Mark ; Raine, Keiran ; Nik-Zainal, Serena ; O'Meara, Sarah ; Teague, Jon W ; Varela, Ignacio ; Wedge, David C ; Whitmore, Ian ; Lippman, Scott M ; McDermott, Ultan ; Stratton, Michael R ; Campbell, Peter J ; El-Naggar, Adel K ; Futreal, P Andrew
    Publisher:United States: American Society for Clinical Investigation
    Journal title:The Journal of clinical investigation, 2013-07, Vol.123 (7), p.2965-2968
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    Author / Creator:Li, Maolan ; Liu, Fatao ; Zhang, Fei ; Zhou, Weiping ; Jiang, Xiaoqing ; Yang, Yuan ; Qu, Kai ; Wang, Yueqi ; Ma, Qiang ; Wang, Ting ; Bai, Lu ; Wang, Zheng ; Song, Xiaoling ; Zhu, Yidi ; Yuan, Ruiyan ; Gao, Yuan ; Liu, Yongchen ; Jin, Yunpeng ; Li, Huaifeng ; Xiang, Shanshan ; Ye, Yuanyuan ; Zhang, Yijian ; Jiang, Lin ; Hu, Yunping ; Hao, Yajuan ; Lu, Wei ; Chen, Shili ; Gu, Jun ; Zhou, Jian ; Gong, Wei ; Zhang, Yong ; Wang, Xuefeng ; Liu, Xiyong ; Liu, Chang ; Liu, Houbao ; Liu, Yun ; Liu, Yingbin
    Publisher:England: BMJ Publishing Group LTD
    Journal title:Gut, 2019-06, Vol.68 (6), p.1024-1033
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    Author / Creator:Chmielecki, Juliann ; Crago, Aimee M ; Rosenberg, Mara ; O'Connor, Rachael ; Walker, Sarah R ; Ambrogio, Lauren ; Auclair, Daniel ; McKenna, Aaron ; Heinrich, Michael C ; Frank, David A ; Meyerson, Matthew
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2013-02, Vol.45 (2), p.131-132
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    Author / Creator:Zhu, Xiaolin ; Petrovski, Slavé ; Xie, Pingxing ; Ruzzo, Elizabeth K. ; Lu, Yi-Fan ; McSweeney, K. Melodi ; Ben-Zeev, Bruria ; Nissenkorn, Andreea ; Anikster, Yair ; Oz-Levi, Danit ; Dhindsa, Ryan S. ; Hitomi, Yuki ; Schoch, Kelly ; Spillmann, Rebecca C. ; Heimer, Gali ; Marek-Yagel, Dina ; Tzadok, Michal ; Han, Yujun ; Worley, Gordon ; Goldstein, Jennifer ; Jiang, Yong-Hui ; Lancet, Doron ; Pras, Elon ; Shashi, Vandana ; McHale, Duncan ; Need, Anna C. ; Goldstein, David B.
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2015-10, Vol.17 (10), p.774-781
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    Author / Creator:Chen, Jintong ; Huang, Yanni ; Chen, Huaning ; Yang, Qinyu ; Zheng, Weiwei ; Lin, Yanjun ; Xue, Mengli ; Wang, Chengdang
    Publisher:Hoboken: Hindawi
    Journal title:Human mutation, 2024-02, Vol.2024, p.1-11
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    Author / Creator:Petrovski, Slavé ; Aggarwal, Vimla ; Giordano, Jessica L ; Stosic, Melissa ; Wou, Karen ; Bier, Louise ; Spiegel, Erica ; Brennan, Kelly ; Stong, Nicholas ; Jobanputra, Vaidehi ; Ren, Zhong ; Zhu, Xiaolin ; Mebane, Caroline ; Nahum, Odelia ; Wang, Quanli ; Kamalakaran, Sitharthan ; Malone, Colin ; Anyane-Yeboa, Kwame ; Miller, Russell ; Levy, Brynn ; Goldstein, David B ; Wapner, Ronald J
    Publisher:England: Elsevier Ltd
    Journal title:The Lancet (British edition), 2019-02, Vol.393 (10173), p.758-767
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    Author / Creator:Cao, Xiaolong ; Zhang, Yeting ; Abdulkadir, Mohamed ; Deng, Li ; Fernandez, Thomas V. ; Garcia-Delgar, Blanca ; Hagstrøm, Julie ; Hoekstra, Pieter J. ; King, Robert A. ; Koesterich, Justin ; Kuperman, Samuel ; Morer, Astrid ; Nasello, Cara ; Plessen, Kerstin J. ; Thackray, Joshua K. ; Zhou, Lisheng ; Dietrich, Andrea ; Tischfield, Jay A. ; Heiman, Gary A. ; Xing, Jinchuan
    Publisher:London: Nature Publishing Group UK
    Journal title:Molecular psychiatry, 2021-11, Vol.26 (11), p.6937-6951
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    Author / Creator:Adalsteinsson, Viktor A. ; Ha, Gavin ; Freeman, Samuel S. ; Choudhury, Atish D. ; Stover, Daniel G. ; Parsons, Heather A. ; Gydush, Gregory ; Reed, Sarah C. ; Rotem, Denisse ; Rhoades, Justin ; Loginov, Denis ; Livitz, Dimitri ; Rosebrock, Daniel ; Leshchiner, Ignaty ; Kim, Jaegil ; Stewart, Chip ; Rosenberg, Mara ; Francis, Joshua M. ; Zhang, Cheng-Zhong ; Cohen, Ofir ; Oh, Coyin ; Ding, Huiming ; Polak, Paz ; Lloyd, Max ; Mahmud, Sairah ; Helvie, Karla ; Merrill, Margaret S. ; Santiago, Rebecca A. ; O’Connor, Edward P. ; Jeong, Seong H. ; Leeson, Rachel ; Barry, Rachel M. ; Kramkowski, Joseph F. ; Zhang, Zhenwei ; Polacek, Laura ; Lohr, Jens G. ; Schleicher, Molly ; Lipscomb, Emily ; Saltzman, Andrea ; Oliver, Nelly M. ; Marini, Lori ; Waks, Adrienne G. ; Harshman, Lauren C. ; Tolaney, Sara M. ; Van Allen, Eliezer M. ; Winer, Eric P. ; Lin, Nancy U. ; Nakabayashi, Mari ; Taplin, Mary-Ellen ; Johannessen, Cory M. ; Garraway, Levi A. ; Golub, Todd R. ; Boehm, Jesse S. ; Wagle, Nikhil ; Getz, Gad ; Love, J. Christopher ; Meyerson, Matthew
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2017-11, Vol.8 (1), p.1324-13, Article 1324
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    Author / Creator:Posey, Jennifer E. ; Rosenfeld, Jill A. ; James, Regis A. ; Bainbridge, Matthew ; Niu, Zhiyv ; Wang, Xia ; Dhar, Shweta ; Wiszniewski, Wojciech ; Akdemir, Zeynep H.C. ; Gambin, Tomasz ; Xia, Fan ; Person, Richard E. ; Walkiewicz, Magdalena ; Shaw, Chad A. ; Sutton, V. Reid ; Beaudet, Arthur L. ; Muzny, Donna ; Eng, Christine M. ; Yang, Yaping ; Gibbs, Richard A. ; Lupski, James R. ; Boerwinkle, Eric ; Plon, Sharon E.
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2016-07, Vol.18 (7), p.678-685
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    Author / Creator:Shi, Hubing ; Moriceau, Gatien ; Kong, Xiangju ; Lee, Mi-Kyung ; Lee, Hane ; Koya, Richard C. ; Ng, Charles ; Chodon, Thinle ; Scolyer, Richard A. ; Dahlman, Kimberly B. ; Sosman, Jeffrey A. ; Kefford, Richard F. ; Long, Georgina V. ; Nelson, Stanley F. ; Ribas, Antoni ; Lo, Roger S.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2012-03, Vol.3 (1), p.724-724, Article 724
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    Author / Creator:Fakhro, Khalid A ; Elbardisi, Haitham ; Arafa, Mohamed ; Robay, Amal ; Rodriguez-Flores, Juan L ; Al-Shakaki, Alya ; Syed, Najeeb ; Mezey, Jason G ; Abi Khalil, Charbel ; Malek, Joel A ; Al-Ansari, Abdulla ; Al Said, Sami ; Crystal, Ronald G
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2018-11, Vol.20 (11), p.1365-1373
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    Author / Creator:Zheng, Hong ; Dai, Wei ; Cheung, Arthur Kwok Leung ; Ko, Josephine Mun Yee ; Kan, Rebecca ; Wong, Bonnie Wing Yan ; Leong, Merrin Man Long ; Deng, Mingdan ; Kwok, Tommy Chin Tung ; Chan, Jimmy Yu-Wai ; Kwong, Dora Lai-Wan ; Lee, Anne Wing-Mui ; Ng, Wai Tong ; Ngan, Roger Kai Cheong ; Yau, Chun Chung ; Tung, Stewart ; Lee, Victor Ho-fun ; Lam, Ka-On ; Kwan, Chung Kong ; Li, Wing Sum ; Yau, Stephen ; Chan, Kwok-Wah ; Lung, Maria Li
    Publisher:United States: National Academy of Sciences
    Journal title:Proceedings of the National Academy of Sciences - PNAS, 2016-10, Vol.113 (40), p.11283-11288
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