학술논문
'학술논문'
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1~10
Academic Journal
Pena, Loren; Shashi, Vandana; Schoch, Kelly; Sullivan, Jennifer A.; Acosta, Maria T.; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F.; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bivona, Stephanie; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Carrasquillo, Olveen; Peter Chang, Ta Chen; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Dasari, Surendra; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Friedman, Noah D.; Gahl, William A.; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gourdine, Jean-Philippe F.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Frances; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Kelley, Emily G.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lam, Byron; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Morava-Kozicz, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nath, Avi; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pak, Stephen; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Renteri, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rowley, Robb K.; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shields, Kathleen; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sweetser, David A.; Tamburro, Cecelia P.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Wegner, Daniel; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Woods, Jeremy D.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, John; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; Gahl, William; Johnson, Brett V.; Kumar, Raman; Oishi, Sabrina; Alexander, Suzy; Kasherman, Maria; Vega, Michelle Sanchez; Ivancevic, Atma; Gardner, Alison; Domingo, Deepti; Corbett, Mark; Parnell, Euan; Yoon, Sehyoun; Oh, Tracey; Lines, Matthew; Lefroy, Henrietta; Kini, Usha; Van Allen, Margot; Grønborg, Sabine; Mercier, Sandra; Küry, Sébastien; Bézieau, Stéphane; Pasquier, Laurent; Raynaud, Martine; Afenjar, Alexandra; Billette de Villemeur, Thierry; Keren, Boris; Désir, Julie; Van Maldergem, Lionel; Marangoni, Martina; Dikow, Nicola; Koolen, David A.; VanHasselt, Peter M.; Weiss, Marjan; Zwijnenburg, Petra; Sa, Joaquim; Reis, Claudia Falcao; López-Otín, Carlos; Santiago-Fernández, Olaya; Fernández-Jaén, Alberto; Rauch, Anita; Steindl, Katharina; Joset, Pascal; Goldstein, Amy; Madan-Khetarpal, Suneeta; Infante, Elena; Zackai, Elaine; Mcdougall, Carey; Narayanan, Vinodh; Ramsey, Keri; Mercimek-Andrews, Saadet; Pinto e Vairo, Filippo; Pichurin, Pavel N.; Ewing, Sarah A.; Barnett, Sarah S.; Klee, Eric W.; Perry, M. Scott; Koenig, Mary Kay; Keegan, Catherine E.; Schuette, Jane L.; Asher, Stephanie; Perilla-Young, Yezmin; Smith, Laurie D.; Bhoj, Elizabeth; Kaplan, Paige; Li, Dong; Oegema, Renske; van Binsbergen, Ellen; van der Zwaag, Bert; Smeland, Marie Falkenberg; Cutcutache, Ioana; Page, Matthew; Armstrong, Martin; Lin, Angela E.; Steeves, Marcie A.; Hollander, Nicolette den; Hoffer, Mariëtte J.V.; Reijnders, Margot R.F.; Demirdas, Serwet; Koboldt, Daniel C.; Bartholomew, Dennis; Mosher, Theresa Mihalic; Hickey, Scott E.; Shieh, Christine; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Tezcan, Kamer; Schaefer, G.B.; Danylchuk, Noelle R.; Asamoah, Alexander; Jackson, Kelly E.; Yachelevich, Naomi; Au, Margaret; Pérez-Jurado, Luis A.; Kleefstra, Tjitske; Penzes, Peter; Wood, Stephen A.; Burne, Thomas; Pierson, Tyler Mark; Piper, Michael; Gécz, Jozef; Jolly, Lachlan A.
In Biological Psychiatry 15 January 2020 87(2):100-112
Academic Journal
Sheppard, Sarah E; Campbell, Ian M; Harr, Margaret H; Gold, Nina; Li, Dong; Bjornsson, Hans T; Cohen, Julie S; Fahrner, Jill A; Fatemi, Ali; Harris, Jacqueline R; Nowak, Catherine; Stevens, Cathy A; Grand, Katheryn; Au, Margaret; Graham, John M; Sanchez‐Lara, Pedro A; Del Campo, Miguel; Jones, Marilyn C; Abdul‐Rahman, Omar; Alkuraya, Fowzan S; Bassetti, Jennifer A; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie D; Derar, Nada; Gripp, Karen W; Hauser, Natalie; Innes, A Micheil; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata J; Rahbeeni, Zuhair; Ben‐Shachar, Shay; Shieh, Joseph T; Slavotinek, Anne; Sobering, Andrew K; Abbott, Mary‐Alice; Allain, Dawn C; Amlie‐Wolf, Louise; Au, Ping Yee Billie; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan A; Cytrynbaum, Cheryl; Chung, Brian Hon‐Yin; Donoghue, Sarah; Dorrani, Naghmeh; Eaton, Alison; Flores‐Daboub, Josue A; Dubbs, Holly; Felix, Carolyn A; Fong, Chin‐To; Fung, Jasmine Lee Fong; Gangaram, Balram; Goldstein, Amy; Greenberg, Rotem; Ha, Thoa K; Hersh, Joseph; Izumi, Kosuke; Kallish, Staci; Kravets, Elijah; Kwok, Pui‐Yan; Jobling, Rebekah K; Johnson, Amy E Knight; Kushner, Jessica; Lee, Bo Hoon; Levin, Brooke; Lindstrom, Kristin; Manickam, Kandamurugu; Mardach, Rebecca; McCormick, Elizabeth; McLeod, D Ross; Mentch, Frank D; Minks, Kelly; Muraresku, Colleen; Nelson, Stanley F; Porazzi, Patrizia; Pichurin, Pavel N; Powell‐Hamilton, Nina N; Powis, Zoe; Ritter, Alyssa; Rogers, Caleb; Rohena, Luis; Ronspies, Carey; Schroeder, Audrey; Stark, Zornitza; Starr, Lois; Stoler, Joan; Suwannarat, Pim; Velinov, Milen; Weksberg, Rosanna; Wilnai, Yael; Zadeh, Neda; Zand, Dina J; Falk, Marni J
American Journal of Medical Genetics Part A. 185(6)
Academic Journal
Ma, Kris Pui Kwan; Mollis, Brenda L.; Rolfes, Jennifer; Au, Margaret; Crocker, Abigail; Scholle, Sarah H.; Kessler, Rodger; Baldwin, Laura-Mae; Stephens, Kari A.
Translational Behavioral Medicine. August 2022, Vol. 12 Issue 8, p878, 6 p.
Academic Journal
Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y; Silva, Ana PG; Lee, Hane; Douine, Emilie D; Otero, Maria G; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P; Delgado, Mauricio R; Hajianpour, MJ; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W; Vergano, Samantha A; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E; Challman, Thomas D; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren DM; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A; Hurst, Jane; Fitzpatrick, David R; Morton, Jenny EV; Cox, Helen; Venkateswaran, Sunita; Young, Juan I; Marsh, Eric D; Nelson, Stanley F; Martinez, Julian A; Graham, John M; Kini, Usha; Mackay, Joel P; Pierson, Tyler Mark
Genetics in Medicine. 22(5)
Academic Journal
Johnson, Brett V; Kumar, Raman; Oishi, Sabrina; Alexander, Suzy; Kasherman, Maria; Vega, Michelle Sanchez; Ivancevic, Atma; Gardner, Alison; Domingo, Deepti; Corbett, Mark; Parnell, Euan; Yoon, Sehyoun; Oh, Tracey; Lines, Matthew; Lefroy, Henrietta; Kini, Usha; Van Allen, Margot; Grønborg, Sabine; Mercier, Sandra; Küry, Sébastien; Bézieau, Stéphane; Pasquier, Laurent; Raynaud, Martine; Afenjar, Alexandra; Billette de Villemeur, Thierry; Keren, Boris; Désir, Julie; Van Maldergem, Lionel; Marangoni, Martina; Dikow, Nicola; Koolen, David A; VanHasselt, Peter M; Weiss, Marjan; Zwijnenburg, Petra; Sa, Joaquim; Reis, Claudia Falcao; López-Otín, Carlos; Santiago-Fernández, Olaya; Fernández-Jaén, Alberto; Rauch, Anita; Steindl, Katharina; Joset, Pascal; Goldstein, Amy; Madan-Khetarpal, Suneeta; Infante, Elena; Zackai, Elaine; Mcdougall, Carey; Narayanan, Vinodh; Ramsey, Keri; Mercimek-Andrews, Saadet; Pena, Loren; Shashi, Vandana; Undiagnosed Diseases Network; Schoch, Kelly; Sullivan, Jennifer A; Pinto E Vairo, Filippo; Pichurin, Pavel N; Ewing, Sarah A; Barnett, Sarah S; Klee, Eric W; Perry, M Scott; Koenig, Mary Kay; Keegan, Catherine E; Schuette, Jane L; Asher, Stephanie; Perilla-Young, Yezmin; Smith, Laurie D; Rosenfeld, Jill A; Bhoj, Elizabeth; Kaplan, Paige; Li, Dong; Oegema, Renske; van Binsbergen, Ellen; van der Zwaag, Bert; Smeland, Marie Falkenberg; Cutcutache, Ioana; Page, Matthew; Armstrong, Martin; Lin, Angela E; Steeves, Marcie A; Hollander, Nicolette den; Hoffer, Mariëtte JV; Reijnders, Margot RF; Demirdas, Serwet; Koboldt, Daniel C; Bartholomew, Dennis; Mosher, Theresa Mihalic; Hickey, Scott E; Shieh, Christine; Sanchez-Lara, Pedro A; Graham, John M; Tezcan, Kamer; Schaefer, GB; Danylchuk, Noelle R; Asamoah, Alexander; Jackson, Kelly E; Yachelevich, Naomi; Au, Margaret; Pérez-Jurado, Luis A; Kleefstra, Tjitske
Biological psychiatry. 87(2)
Academic Journal
Bell, Scott; Rousseau, Justine; Peng, Huashan; Aouabed, Zahia; Priam, Pierre; Theroux, Jean-Francois; Jefri, Malvin; Tanti, Arnaud; Wu, Hanrong; Kolobova, Ilaria; Silviera, Heika; Manzano-Vargas, Karla; Ehresmann, Sophie; Hamdan, Fadi; Hettige, Nuwan; Zhang, Xin; Antonyan, Lilit; Nassif, Christina; Ghaloul-Gonzalez, Lina; Sebastian, Jessica; Vockley, Jerry; Begtrup, Amber; Wentzensen, Ingrid; Crunk, Amy; Nicholls, Robert; Deignan, Joshua; Al-Hertani, Walla; Efthymiou, Stephanie; Salpietro, Vincenzo; Miyake, Noriko; Makita, Yoshio; Matsumoto, Naomichi; Østern, Rune; Houge, Gunnar; Hafström, Maria; Fassi, Emily; Houlden, Henry; Klein Wassink-Ruiter, Jolien; Nelson, Dominic; Goldstein, Amy; Dabir, Tabib; van Gils, Julien; Bourgeron, Thomas; Delorme, Richard; Cooper, Gregory; Martinez, Jose; Finnila, Candice; Carmant, Lionel; Lortie, Anne; Oegema, Renske; van Gassen, Koen; Mehta, Sarju; Huhle, Dagmar; Abou Jamra, Rami; Martin, Sonja; Brunner, Han; Lindhout, Dick; Au, Margaret; Graham, John; Coubes, Christine; Turecki, Gustavo; Gravel, Simon; Mechawar, Naguib; Rossignol, Elsa; Michaud, Jacques; Lessard, Julie; Ernst, Carl; Campeau, Philippe; Herman, Kristin
American Journal of Human Genetics. 104(5)
Academic Journal
Stephens, Kari; (Pui Kwan) Ma, Kris; Ying Zhang; Prado, Maria; Au, Margaret; Geyer, Rachel; Mollis, Brenda; Zbikowski, Susan; Waters, Deanna; Masterson, Jo
Woods, Jeremy D.; Payton, Kurlen S.E.; Sanchez-Lara, Pedro A.; Au, Margaret; Simmons, Charles F.; Graham, John M., Jr.
In The Journal of Pediatrics August 2019 211:207-210
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function
Academic Journal
Chen, Wenjuan; Shieh, Christine; Swanger, Sharon A; Tankovic, Anel; Au, Margaret; McGuire, Marianne; Tagliati, Michele; Graham, John M; Madan-Khetarpal, Suneeta; Traynelis, Stephen F; Yuan, Hongjie; Pierson, Tyler Mark
Journal of Human Genetics. 62(6)
Academic Journal
Sheppard, Sarah E.; Bryant, Laura; Wickramasekara, Rochelle N.; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J.; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M. Celeste; de la Cruz, Xavier; Padilla, Natalia; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Da Silva, Renata Pellegrino; Li, Dong; March, Michael; Diaz-Rosado, Abdias; de Barcelos, Isabella Peixoto; Choa, Zhao Xiang; Lim, Chin Yan; Dubourg, Christele; Journel, Hubert; Demurger, Florence; Mulhern, Maureen; Akman, Cigdem; Lippa, Natalle; Andrews, Marisa; Baldridge, Dustin; Constantino, John; Rauch, Anita; van Haeingen, Arie; Snoeck-Streef, Irina; Chow, Penny; Hing, Anne; Graham, John M., Jr.; Au, Margaret; Falvre, Laurence; Shen, Wel; Mao, Rong; Palumbos, Janice; Viskochil, David; Gahl, William; Tifft, Cynthia; Macnamara, Ellen; Hauser, Natalie; Miller, Rebecca; Maffeo, Jessica; Afenjar, Alexandra; Doummar, Diane; Keren, Boris; Arn, Pamela; Mackllin-Mantla, Sarah; Meerschaut, Ilse; Callewaert, Bert; Rels, Andre; Zweler, Christiane; Brewer, Carole; Saggar, Anand; Smeland, Marie F.; Kumar, Ajith; Elmslie, Frances; Deshpande, Charu; Nizon, Mathilde; Cogne, Benjamin; van Ierland, Yvette; Wilke, Martina; van Slegtenhorst, Marjon; Koudijs, Suzanne; Chen, Jin Yun; Dredge, David; Pler, Danielle; Wortmann, Saskia; Kamsteeg, Erik-Jann; Koch, Johannes; Haynes, Devon; Pollack, Lynda; Titheradge, Hannah; Ranguin, Kara; Denomme-Pichon, Anne-Sophie; Weber, Sacha; de la Fuente, Ruben Perez; del Pozo, Jaime Sanchez; Rosales, Jose Miguel Lezana; Joset, Pascal; Steindl, Katharina; Rauch, Ani; Mei, Davide; Mari, Francesco; Guerrini, Renzo; Lespinasse, James; Mau-Then, Frederic Tran; Philippe, Christophe; Dauriat, Benjamin; Raymond, Laure; Moutton, Sebastien; Cueto-Gonzalez, Anna M.; Tan, Tiong Yang; Mignot, Cyril; Grotto, Sarah; Renaldo, Florence; Drivas, Theodore G.; Hennessy, Laura; Raper, Anna; Parenti, Ilaria; Kaiser, Frank J.; Kuechler, Alma; Busk, Oyvind L.; Islam, Lily; Siedlik, Jacob A.; Henderson, Lindsay B.; Juusola, Jane; Person, Richard; Schnur, Rhonda E.; Vitobello, Antonio; Banka, Siddharth; Bhoj, Elizabeth J.; Stessman, Holly A. F.
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