28,372 results for Exome

28,372 results for Exome

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    Author / Creator:Groopman, Emily E ; Marasa, Maddalena ; Cameron-Christie, Sophia ; Petrovski, Slavé ; Aggarwal, Vimla S ; Milo-Rasouly, Hila ; Li, Yifu ; Zhang, Junying ; Nestor, Jordan ; Krithivasan, Priya ; Lam, Wan Yee ; Mitrotti, Adele ; Piva, Stacy ; Kil, Byum H ; Chatterjee, Debanjana ; Reingold, Rachel ; Bradbury, Drew ; DiVecchia, Michael ; Snyder, Holly ; Mu, Xueru ; Mehl, Karla ; Balderes, Olivia ; Fasel, David A ; Weng, Chunhua ; Radhakrishnan, Jai ; Canetta, Pietro ; Appel, Gerald B ; Bomback, Andrew S ; Ahn, Wooin ; Uy, Natalie S ; Alam, Shumyle ; Cohen, David J ; Crew, Russell J ; Dube, Geoffrey K ; Rao, Maya K ; Kamalakaran, Sitharthan ; Copeland, Brett ; Ren, Zhong ; Bridgers, Joshua ; Malone, Colin D ; Mebane, Caroline M ; Dagaonkar, Neha ; Fellström, Bengt C ; Haefliger, Carolina ; Mohan, Sumit ; Sanna-Cherchi, Simone ; Kiryluk, Krzysztof ; Fleckner, Jan ; March, Ruth ; Platt, Adam ; Goldstein, David B ; Gharavi, Ali G
    Publisher:United States: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2019-01, Vol.380 (2), p.142-151
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    Author / Creator:Biesecker, Leslie G ; Green, Robert C
    Publisher:Waltham, MA: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2014-06, Vol.370 (25), p.2418-2425
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    Author / Creator:Zech, Michael ; Jech, Robert ; Boesch, Sylvia ; Škorvánek, Matej ; Weber, Sandrina ; Wagner, Matias ; Zhao, Chen ; Jochim, Angela ; Necpál, Ján ; Vill, Katharina ; Stoklosa, Malgorzata ; Krenn, Martin ; Grunwald, Stephan ; Bock-Bierbaum, Tobias ; Fečíková, Anna ; Roth, Jan ; Příhodová, Iva ; Adamovičová, Miriam ; Ulmanová, Olga ; Bechyně, Karel ; Danhofer, Pavlína ; Veselý, Branislav ; Haň, Vladimír ; Gdovinová, Zuzana ; Mantel, Tobias ; Meindl, Tobias ; Sitzberger, Alexandra ; Schröder, Sebastian ; Blaschek, Astrid ; Roser, Timo ; Bonfert, Michaela V ; Haberlandt, Edda ; Plecko, Barbara ; Berweck, Steffen ; Herberhold, Thomas ; Langguth, Berthold ; Švantnerová, Jana ; Minár, Michal ; Ramos-Rivera, Gonzalo Alonso ; Wojcik, Monica H ; Pajusalu, Sander ; Õunap, Katrin ; Pölsler, Laura ; Milenkovic, Ivan ; Laccone, Franco ; Pilshofer, Veronika ; Colombo, Roberto ; Patzer, Steffi ; Iuso, Arcangela ; Vera, Julia ; Troncoso, Monica ; Fang, Fang ; Wilbert, Friederike ; Eckenweiler, Matthias ; Graf, Elisabeth ; Westphal, Dominik S ; Riedhammer, Korbinian M ; Alhaddad, Bader ; Berutti, Riccardo ; Strom, Tim M ; Hecht, Martin ; Baumann, Matthias ; Wolf, Marc ; Telegrafi, Aida ; Person, Richard E ; Zamora, Francisca Millan ; Henderson, Lindsay B ; Musacchio, Thomas ; Volkmann, Jens ; Szuto, Anna ; Becker, Jessica ; Cremer, Kirsten ; Sycha, Thomas ; Zimprich, Fritz ; Kraus, Verena ; Makowski, Christine ; Gonzalez-Alegre, Pedro ; Bardakjian, Tanya M ; Ozelius, Laurie J ; Vetro, Annalisa ; Guerrini, Renzo ; Maier, Esther ; Borggraefe, Ingo ; Kuster, Alice ; Hackenberg, Annette ; Steinfeld, Robert ; Assmann, Birgit ; Staufner, Christian ; Opladen, Thomas ; Růžička, Evžen ; Cohn, Ronald D ; Dyment, David ; Chung, Wendy K ; Engels, Hartmut ; Ploski, Rafal ; Daumke, Oliver ; Haslinger, Bernhard ; Mall, Volker ; Oexle, Konrad ; Winkelmann, Juliane
    Publisher:England: Elsevier Ltd
    Journal title:Lancet neurology, 2020-11, Vol.19 (11), p.908-918
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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:Brand, Harrison ; Whelan, Christopher W. ; Duyzend, Michael ; Lemanski, John ; Salani, Monica ; Hao, Stephanie P. ; Wong, Isaac ; Valkanas, Elise ; Cusick, Caroline ; Genetti, Casie ; Dobson, Lori ; Studwell, Courtney ; Gianforcaro, Kathleen ; Wilkins-Haug, Louise ; Guseh, Stephanie ; Currall, Benjamin ; Gray, Kathryn ; Talkowski, Michael E.
    Publisher:United States: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2023-11, Vol.389 (21), p.2014-2016
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    Author / Creator:Clark, Michael J ; Chen, Rui ; Lam, Hugo Y K ; Karczewski, Konrad J ; Chen, Rong ; Euskirchen, Ghia ; Butte, Atul J ; Snyder, Michael
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature biotechnology, 2011-10, Vol.29 (10), p.908-914
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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: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:Sparks, Teresa N ; Lianoglou, Billie R ; Adami, Rebecca R ; Pluym, Ilina D ; Holliman, Kerry ; Duffy, Jennifer ; Downum, Sarah L ; Patel, Sachi ; Faubel, Amanda ; Boe, Nina M ; Field, Nancy T ; Murphy, Aisling ; Laurent, Louise C ; Jolley, Jennifer ; Uy, Cherry ; Slavotinek, Anne M ; Devine, Patrick ; Hodoglugil, Ugur ; Van Ziffle, Jessica ; Sanders, Stephan J ; MacKenzie, Tippi C ; Norton, Mary E
    Publisher:United States: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2020-10, Vol.383 (18), p.1746-1756
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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:de Ligt, Joep ; Willemsen, Marjolein H ; van Bon, Bregje W.M ; Kleefstra, Tjitske ; Yntema, Helger G ; Kroes, Thessa ; Vulto-van Silfhout, Anneke T ; Koolen, David A ; de Vries, Petra ; Gilissen, Christian ; del Rosario, Marisol ; Hoischen, Alexander ; Scheffer, Hans ; de Vries, Bert B.A ; Brunner, Han G ; Veltman, Joris A ; Vissers, Lisenka E.L.M
    Publisher:Waltham, MA: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2012-11, Vol.367 (20), p.1921-1929
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    Author / Creator:Gilissen, Christian ; Hoischen, Alexander ; Brunner, Han G ; Veltman, Joris A
    Publisher:Basingstoke: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2012-05, Vol.20 (5), p.490-497
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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:Van Hout, Cristopher V. ; Tachmazidou, Ioanna ; Backman, Joshua D. ; Hoffman, Joshua D. ; Liu, Daren ; Pandey, Ashutosh K. ; Gonzaga-Jauregui, Claudia ; Khalid, Shareef ; Ye, Bin ; Banerjee, Nilanjana ; Li, Alexander H. ; O’Dushlaine, Colm ; Marcketta, Anthony ; Staples, Jeffrey ; Schurmann, Claudia ; Hawes, Alicia ; Maxwell, Evan ; Barnard, Leland ; Lopez, Alexander ; Penn, John ; Habegger, Lukas ; Blumenfeld, Andrew L. ; Bai, Xiaodong ; O’Keeffe, Sean ; Yadav, Ashish ; Praveen, Kavita ; Jones, Marcus ; Salerno, William J. ; Chung, Wendy K. ; Surakka, Ida ; Willer, Cristen J. ; Hveem, Kristian ; Leader, Joseph B. ; Carey, David J. ; Ledbetter, David H. ; Cardon, Lon ; Yancopoulos, George D. ; Economides, Aris ; Coppola, Giovanni ; Shuldiner, Alan R. ; Balasubramanian, Suganthi ; Cantor, Michael ; Nelson, Matthew R. ; Whittaker, John ; Reid, Jeffrey G. ; Marchini, Jonathan ; Overton, John D. ; Scott, Robert A. ; Abecasis, Gonçalo R. ; Yerges-Armstrong, Laura ; Baras, Aris
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature (London), 2020-10, Vol.586 (7831), p.749-756
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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, Article 174
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    Author / Creator:Babadi, Mehrtash ; Fu, Jack M. ; Lee, Samuel K. ; Smirnov, Andrey N. ; Gauthier, Laura D. ; Walker, Mark ; Benjamin, David I. ; Zhao, Xuefang ; Karczewski, Konrad J. ; Wong, Isaac ; Collins, Ryan L. ; Sanchis-Juan, Alba ; Brand, Harrison ; Banks, Eric ; Talkowski, Michael E.
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2023-09, Vol.55 (9), p.1589-1597
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    Author / Creator:Li, Yvonne Y ; Chung, Grace T Y ; Lui, Vivian W Y ; To, Ka-fai ; Ma, Brigette B Y ; Chow, Chit ; Woo, John K S ; Yip, Kevin Y ; Seo, Jeongsun ; Hui, Edwin P ; Mak, Michael K F ; Rusan, Maria ; Chau, Nicole G ; Or, Yvonne Y Y ; Law, Marcus H N ; Law, Peggy P Y ; Liu, Zoey W Y ; Ngan, Hoi-lam ; Hau, Pok-man ; Verhoeft, Krista R ; Poon, Peony H Y ; Yoo, Seong-keun ; Shin, Jong-yeon ; Lee, Sau-dan ; Lun, Samantha W M ; Jia, Lin ; Chan, Anthony W H ; Chan, Jason Y K ; Lai, Paul B S ; Fung, Choi-yi ; Hung, Suet-ting ; Wang, Lin ; Chang, Ann Margaret V ; Chiosea, Simion I ; Hedberg, Matthew L ; Tsao, Sai-wah ; Van Hasselt, Andrew C ; Chan, Anthony T C ; Grandis, Jennifer R ; Hammerman, Peter S ; Lo, Kwok-wai
    Publisher:London: Nature Publishing Group
    Journal title:Nature communications, 2017-01, Vol.8, p.14121
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    Author / Creator:Deelen, Patrick ; van Dam, Sipko ; Herkert, Johanna C. ; Karjalainen, Juha M. ; Brugge, Harm ; Abbott, Kristin M. ; van Diemen, Cleo C. ; van der Zwaag, Paul A. ; Gerkes, Erica H. ; Zonneveld-Huijssoon, Evelien ; Boer-Bergsma, Jelkje J. ; Folkertsma, Pytrik ; Gillett, Tessa ; van der Velde, K. Joeri ; Kanninga, Roan ; van den Akker, Peter C. ; Jan, Sabrina Z. ; Hoorntje, Edgar T. ; te Rijdt, Wouter P. ; Vos, Yvonne J. ; Jongbloed, Jan D. H. ; van Ravenswaaij-Arts, Conny M. A. ; Sinke, Richard ; Sikkema-Raddatz, Birgit ; Kerstjens-Frederikse, Wilhelmina S. ; Swertz, Morris A. ; Franke, Lude
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2019-06, Vol.10 (1), p.2837-13, Article 2837
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