학술논문
'학술논문'
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1~10
Academic Journal
Chen, Yuyang; Dawes, Ruebena; Kim, Hyung; Ljungdahl, Alicia; Stenton, Sarah; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra; Ganesh, Vijay; Ma, Jialan; Ellingford, Jamie; Delage, Erwan; DSouza, Elston; Dong, Shan; Adams, David; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin; Berger, Seth; Bernstein, Jonathan; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha; Burrage, Lindsay; Chapman, Kimberly; Coman, David; Compton, Alison; Cunningham, Chloe; DSouza, Precilla; Danecek, Petr; Délot, Emmanuèle; Dias, Kerith-Rae; Elias, Ellen; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie; Gallacher, Lyndon; Genetti, Casie; Goriely, Anne; Grant, Christina; Haack, Tobias; Higgs, Jenny; Hinch, Anjali; Hurles, Matthew; Kuechler, Alma; Lachlan, Katherine; Lalani, Seema; Lecoquierre, François; Leitão, Elsa; Fevre, Anna; Leventer, Richard; Liebelt, Jan; Lindsay, Sarah; Lockhart, Paul; Ma, Alan; Macnamara, Ellen; Mansour, Sahar; Maurer, Taylor; Mendez, Hector; Metcalfe, Kay; Montgomery, Stephen; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; ODonoghue, Michael; OLeary, Melanie; Palmer, Elizabeth; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi; Reuter, Chloe; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill; Sachdev, Rani; Shaw-Smith, Charles; Simons, Cas; Sisodiya, Sanjay; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen; Tan, Tiong; Tan, Natalie; Temple, Suzanna; Thorburn, David; Tifft, Cynthia; Uebergang, Eloise; VanNoy, Grace; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David
Nature: New biology. 632(8026)
Academic Journal
Früh, Simon; Boudkkazi, Sami; Koppensteiner, Peter; Sereikaite, Vita; Chen, Li-Yuan; Fernandez-Fernandez, Diego; Rem, Pascal; Ulrich, Daniel; Schwenk, Jochen; Chen, Ziyang; Le Monnier, Elodie; Fritzius, Thorsten; Innocenti, Sabrina; Besseyrias, Valérie; Trovò, Luca; Stawarski, Michal; Argilli, Emanuela; Sherr, Elliott; van Bon, Bregje; Kamsteeg, Erik-Jan; Iascone, Maria; Pilotta, Alba; Cutrì, Maria; Azamian, Mahshid; Hernández-García, Andrés; Lalani, Seema; Rosenfeld, Jill; Zhao, Xiaonan; Vogel, Tiphanie; Ona, Herda; Scott, Daryl; Scheiffele, Peter; Strømgaard, Kristian; Tafti, Mehdi; Gassmann, Martin; Fakler, Bernd; Shigemoto, Ryuichi; Bettler, Bernhard
Science Advances. 10(28)
Academic Journal
Lu, Xiaona; Ng, Kim; Pinto e Vairo, Filippo; Collins, James; Cohn, Ronald; Riley, Kacie; Agre, Katherine; Gavrilova, Ralitza; Klee, Eric W.; Rosenfeld, Jill A.; Jiang, Yong-hui
European Journal of Human Genetics. 32(7):879-883
Academic Journal
Dohrn, Maike F.; Bademci, Guney; Rebelo, Adriana P.; Jeanne, Médéric; Borja, Nicholas A.; Beijer, Danique; Danzi, Matt C.; Bivona, Stephanie A.; Gueguen, Paul; Zafeer, Mohammad F.; Tekin, Mustafa; Züchner, Stephan; Acosta, Maria T.; Adams, David R.; Afzali, Ben; Allworth, Aimee; Alvarez, Raquel L.; Alvey, Justin; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak‐Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Borja, Nicholas; Botto, Lorenzo; Briere, Lauren C.; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Cassini, Thomas; Chanprasert, Sirisak; Chao, Hsiao‐Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corner, Brian; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Delgado, Margaret; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; D' Souza, Precilla; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Ezell, Kimberly; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Fu, Jiayu; Gahl, William A.; Glass, Ian; Goddard, Page C.; Godfrey, Rena A.; Gonzalez, Joanna M.; Gropman, Andrea; Halley, Meghan C.; Hamid, Rizwan; Hanchard, Neil; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike‐Pyne, Martha; Huang, Yan; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Izumi, Kosuke; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean‐Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latchman, Kumarie; Leblanc, Kimberly; Lee, Brendan H.; Lewis, Richard A.; Liu, Pengfei; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; Macrae, Calum A.; Maduro, Valerie V.; Maghiro, Audreystephannie C.; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez‐Agosto, Julian A.; Marwaha, Shruti; Mcconkie‐Rosell, Allyn; Mccray, Alexa T.; Mcgee, Elisabeth; Might, Matthew; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Nakano‐Okuno, Mariko; Nelson, Stanley F.; Neumann, Serena; Nieves‐Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Papp, Jeanette C.; Parker, Neil H.; Peart, Léshon; Petcharet, Leoyklang; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Swerdzewski, Barbara N. Pusey; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Rebelo, Adriana; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sampson, Jacinda B.; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Sharma, Prashant; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Carson A.; Smith, Kevin S.; Solnica‐Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.‐G.; Tan, Amelia L.M.; Tarakad, Arjun; Taylor, Herman; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Yamamoto, Shinya; Zhang, Zhe
Annals of Clinical and Translational Neurology. April, 2024, Vol. 11 Issue 4, p1075, 1079 p.
Academic Journal
Guo, Long; Salian, Smrithi; Xue, Jing-Yi; Rath, Nicola; Rousseau, Justine; Kim, Hyunyun; Ehresmann, Sophie; Moosa, Shahida; Nakagawa, Norio; Kuroda, Hiroshi; Clayton-Smith, Jill; Wang, Juan; Wang, Zheng; Banka, Siddharth; Jackson, Adam; Zhang, Yan-Min; Wei, Zhen-Jie; Hüning, Irina; Brunet, Theresa; Ohashi, Hirofumi; Thomas, Molly; Bupp, Caleb; Miyake, Noriko; Matsumoto, Naomichi; Mendoza-Londono, Roberto; Costain, Gregory; Hahn, Gabriele; Di Donato, Nataliya; Yigit, Gökhan; Yamada, Takahiro; Nishimura, Gen; Ansel, Karl; Wollnik, Bernd; Hrabě de Angelis, Martin; Mégarbané, André; Rosenfeld, Jill; Heissmeyer, Vigo; Ikegawa, Shiro; Campeau, Philippe
American Journal of Human Genetics. 110(7)
Academic Journal
Accogli, Andrea; Zaki, Maha S; Al-Owain, Mohammed; Otaif, Mansour Y; Jackson, Adam; Argilli, Emanuela; Chandler, Kate E; De Goede, Christian GEL; Cora, Tülün; Alvi, Javeria Raza; Eslahi, Atieh; Asl Mohajeri, Mahsa Sadat; Ashtiani, Setareh; Au, PY Billie; Scocchia, Alicia; Alakurtti, Kirsi; Pagnamenta, Alistair T; Toosi, Mehran Beiraghi; Ghayoor Karimiani, Ehsan; Mojarrad, Majid; Arab, Fatemeh; Duymuş, Fahrettin; Scantlebury, Morris H; Yeşil, Gözde; Rosenfeld, Jill Anne; Türkyılmaz, Ayberk; Sağer, Safiye Güneş; Sultan, Tipu; Ashrafzadeh, Farah; Zahra, Tatheer; Rahman, Fatima; Maqbool, Shazia; Abdel-Hamid, Mohamed S; Issa, Mahmoud; Efthymiou, Stephanie; Bauer, Peter; Zifarelli, Giovanni; Salpietro, Vincenzo; Al-Hassnan, Zuhair; Banka, Siddharth; Sherr, Elliot H; Gleeson, Joseph G; Striano, Pasquale; Houlden, Henry; Severino, Mariasavina; Maroofian, Reza
Academic Journal
Donkervoort, Sandra; Mohassel, Payam; O'Leary, Melanie; Bonner, Devon E.; Hartley, Taila; Acquaye, Nicole; Brull, Astrid; Mozaffar, Tahseen; Saporta, Mario A.; Dyment, David A.; Sampson, Jacinda B.; Pajusalu, Sander; Austin‐Tse, Christina; Hurth, Kyle; Cohen, Julie S.; Mcwalter, Kirsty; Warman‐Chardon, Jodi; Crunk, Amy; Foley, A. Reghan; Acosta, Maria T.; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Allworth, Aimee; Andrews, Ashley; Ashley, Euan A.; Afzali, Ben; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak‐Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Cassini, Thomas; Chanprasert, Sirisak; Chao, Hsiao‐Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D' Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Delgado, Margaret; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Fu, Jiayu; Gahl, William A.; Glass, Ian; Goddard, Page C.; Godfrey, Rena A.; Gropman, Andrea; Halley, Meghan C.; Hamid, Rizwan; Hanchard, Neal; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike‐Pyne, Martha; Huang, Alden; Huang, Yan; Hutchison, Sarah; Introne, Wendy; Izumi, Kosuke; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean‐Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Leblanc, Kimberly; Lee, Brendan H.; Lewis, Richard A.; Liu, Pengfei; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; Macrae, Calum A.; Maduro, Valerie V.; Maghiro, Audreystephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez‐Agosto, Julian A.; Marwaha, Shruti; Mcconkie‐Rosell, Allyn; Mccray, Alexa T.; Mcgee, Elisabeth; Might, Matthew; Mikati, Mohamad; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Nakano‐Okuno, Mariko; Nelson, Stanley F.; Nieves‐Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Papp, Jeanette C.; Parker, Neil H.; Petcharet, Leoyklang; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Swerdzewski, Barbara N. Pusey; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Sharma, Prashant; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Kevin S.; Solnica‐Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.‐G.; Amelia, L.M. Tan; Tarakad, Arjun; Taylor, Herman; Tekin, Mustafa; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee‐Kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan; Mammen, Andrew L.; O'Donnell‐Luria, Anne; Bönnemann, Carsten G.
Annals of Clinical and Translational Neurology. March, 2024, Vol. 11 Issue 3, p629, 640 p.
Academic Journal
LaFlamme, Christy W.; Rastin, Cassandra; Sengupta, Soham; Pennington, Helen E.; Russ-Hall, Sophie J.; Schneider, Amy L.; Bonkowski, Emily S.; Almanza Fuerte, Edith P.; Allan, Talia J.; Zalusky, Miranda Perez-Galey; Goffena, Joy; Gibson, Sophia B.; Nyaga, Denis M.; Lieffering, Nico; Hebbar, Malavika; Walker, Emily V.; Darnell, Daniel; Olsen, Scott R.; Kolekar, Pandurang; Djekidel, Mohamed Nadhir; Rosikiewicz, Wojciech; McConkey, Haley; Kerkhof, Jennifer; Levy, Michael A.; Relator, Raissa; Lev, Dorit; Lerman-Sagie, Tally; Park, Kristen L.; Alders, Marielle; Cappuccio, Gerarda; Chatron, Nicolas; Demain, Leigh; Genevieve, David; Lesca, Gaetan; Roscioli, Tony; Sanlaville, Damien; Tedder, Matthew L.; Gupta, Sachin; Jones, Elizabeth A.; Weisz-Hubshman, Monika; Ketkar, Shamika; Dai, Hongzheng; Worley, Kim C.; Rosenfeld, Jill A.; Chao, Hsiao-Tuan; Neale, Geoffrey; Carvill, Gemma L.; Wang, Zhaoming; Berkovic, Samuel F.; Sadleir, Lynette G.; Miller, Danny E.; Scheffer, Ingrid E.; Sadikovic, Bekim; Mefford, Heather C.
Nature Communications. 15(1)
Academic Journal
Accogli, Andrea; Shakya, Saurabh; Yang, Taewoo; Insinna, Christine; Kim, Soo Yeon; Bell, David; Butov, Kirill R.; Severino, Mariasavina; Niceta, Marcello; Scala, Marcello; Lee, Hyun Sik; Yoo, Taekyeong; Stauffer, Jimmy; Zhao, Huijie; Fiorillo, Chiara; Pedemonte, Marina; Diana, Maria C.; Baldassari, Simona; Zakharova, Viktoria; Shcherbina, Anna; Rodina, Yulia; Fagerberg, Christina; Roos, Laura Sønderberg; Wierzba, Jolanta; Dobosz, Artur; Gerard, Amanda; Potocki, Lorraine; Rosenfeld, Jill A.; Lalani, Seema R.; Scott, Tiana M.; Scott, Daryl; Azamian, Mahshid S.; Louie, Raymond; Moore, Hannah W.; Champaigne, Neena L.; Hollingsworth, Grace; Torella, Annalaura; Nigro, Vincenzo; Ploski, Rafal; Salpietro, Vincenzo; Zara, Federico; Pizzi, Simone; Chillemi, Giovanni; Ognibene, Marzia; Cooney, Erin; Do, Jenny; Linnemann, Anders; Larsen, Martin J.; Specht, Suzanne; Walters, Kylie J.; Choi, Hee-Jung; Choi, Murim; Tartaglia, Marco; Youkharibache, Phillippe; Chae, Jong-Hee; Capra, Valeria; Park, Sung-Gyoo; Westlake, Christopher J.
Nature Communications. 15(1)
Academic Journal
Brooks, Daniel; Burke, Elizabeth; Lee, Sukyeong; Eble, Tanya N.; O’Leary, Melanie; Osei-Owusu, Ikeoluwa; Rehm, Heidi L.; Dhar, Shweta U.; Emrick, Lisa; Bick, David; Nehrebecky, Michelle; Macnamara, Ellen; Casas-Alba, Dídac; Armstrong, Judith; Prat, Carolina; Martínez-Monseny, Antonio F.; Palau, Francesc; Liu, Pengfei; Adams, David; Lalani, Seema; Rosenfeld, Jill A.; Burrage, Lindsay C.
Human Genetics. 143(3):279-291
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