학술논문
'학술논문'
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1~10
Academic Journal
Li, Jianqiao; Hojlo, Margaret A; Chennuri, Sampath; Gujral, Nitin; Paterson, Heather L; Shefchek, Kent A; Genetti, Casie A; Cohn, Emily L; Sewalk, Kara C; Garvey, Emily A; Buttermore, Elizabeth D; Anderson, Nickesha C; Beggs, Alan H; Agrawal, Pankaj B; Brownstein, John S; Haendel, Melissa A; Holm, Ingrid A; Gonzalez-Heydrich, Joseph; Brownstein, Catherine A
Journal of Medical Internet Research, Vol 23, Iss 3, p e21023 (2021)
Academic Journal
Shieh, Perry B ; Kuntz, Nancy L; Dowling, James J; Müller-Felber, Wolfgang; Bönnemann, Carsten G; Seferian, Andreea M; Servais, Laurent; Smith, Barbara K; Muntoni, Francesco; Blaschek, Astrid; Foley, A Reghan; Saade, Dimah N; Neuhaus, Sarah; Alfano, Lindsay N; Beggs, Alan H; Buj-Bello, Ana; Childers, Martin K; Duong, Tina; Graham, Robert J; Jain, Minal; Coats, Julie; MacBean, Vicky; James, Emma S; Lee, Jun; Mavilio, Fulvio; Miller, Weston; Varfaj, Fatbardha; Murtagh, Michael; Han, Cong; Noursalehi, Mojtaba; Lawlor, Michael W; Prasad, Suyash; Rico, Salvador
In The Lancet Neurology December 2023 22(12):1125-1139
Academic Journal
Bainbridge, Matthew N; Mazumder, Aloran; Ogasawara, Daisuke; Jamra, Rami Abou; Bernard, Geneviève; Bertini, Enrico; Burglen, Lydie; Cope, Heidi; Crawford, Ali; Derksen, Alexa; Dure, Leon; Gantz, Emily; Koch-Hogrebe, Margarete; Hurst, Anna CE; Mahida, Sonal; Marshall, Paige; Micalizzi, Alessia; Novelli, Antonio; Peng, Hongfan; Medicine, Rady Children's Institute for Genomic; Rodriguez, Diana; Robbins, Shira L; Rutledge, S Lane; Scalise, Roberta; Schließke, Sophia; Shashi, Vandana; Srivastava, Siddharth; Thiffault, Isabella; Topol, Sarah; Acosta, Maria T; Adam, Margaret; Adams, David R; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; 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; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Byers, Peter; Byrd, William E; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Coggins, Matthew; Cole, F Sessions; Colley, Heather A; Cooper, Cynthia M; Craigen, William J; Crouse, Andrew B; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G; Deardorff, Matthew; Dell’Angelica, Esteban C; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L; Douine, Emilie D; Duncan, Laura; Earl, Dawn
Brain. 145(10)
Academic Journal
Shankar, Suma P; Grimsrud, Kristin; Lanoue, Louise; Egense, Alena; Willis, Brandon; Hörberg, Johanna; AlAbdi; Mayer, Klaus; Ütkür, Koray; Monaghan, Kristin G; Krier, Joel; Stoler, Joan; Alnemer, Maha; Shankar, Prabhu R; Schaffrath, Raffael; Alkuraya, Fowzan S; Brinkmann, Ulrich; Eriksson, Leif A; Lloyd, Kent; Rauen, Katherine A; Network, Undiagnosed Diseases; Acosta, Maria T; Adam, Margaret; Adams, David R; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; 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; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Byers, Peter; Byrd, William E; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Coggins, Matthew; Cole, F Sessions; Colley, Heather A; Cooper, Cynthia M; Cope, Heidi; Craigen, William J; Crouse, Andrew B; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G; Deardorff, Matthew; Dell'Angelica, Esteban C; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L; Douine, Emilie D; Duncan, Laura; Earl, Dawn; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Fieg, Elizabeth L; Fisher, Paul G
Genetics in Medicine. 24(7)
Periodical
Perrin, Aurélien; Métay, Corinne; Savarese, Marco; Ben Yaou, Rabah; Demidov, German; Nelson, Isabelle; Solé, Guilhem; Péréon, Yann; Bertini, Enrico Silvio; Fattori, Fabiana; D'Amico, Adele; Ricci, Federica; Ginsberg, Mira; Seferian, Andreea; Boespflug-Tanguy, Odile; Servais, Laurent; Chapon, Francoise; Lagrange, Emmeline; Gaudon, Karen; Bloch, Adrien; Ghanem, Robin; Guyant-Maréchal, Lucie; Johari, Mridul; Van Goethem, Charles; Fardeau, Michel; Morales, Raul Juntas; Genetti, Casie A; Marttila, Minttu; Koenig, Michel; Beggs, Alan H; Udd, Bjarne; Bonne, Gisèle; Cossée, Mireille
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 4 p369-377, 9p
Academic Journal
McConkie‐Rosell, Allyn; Schoch, Kelly; Sullivan, Jennifer; Spillmann, Rebecca C; Cope, Heidi; Tan, Queenie K‐G; Palmer, Christina GS; Hooper, Stephen R; Shashi, Vandana; Acosta, Maria T; Adam, Margaret; Adams, David R; Agrawal, Pankaj B; Alejandro, Mercedes E; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak‐Toydemir, Pinar; Beck, Anita; Beggs, Alan H; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg‐Rood, Beverly; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Byers, Peter; Byrd, William E; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao‐Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Coggins, Matthew; Sessions Cole, F; Colley, Heather A; Cooper, Cynthia M; Craigen, William J; Crouse, Andrew B; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G; Deardorff, Matthew; Dell'Angelica, Esteban C; Dhar, Shweta U; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D; Draper, David D; Duncan, Laura; Earl, Dawn; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Esteves, Cecilia; Estwick, Tyra; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L; Findley, Laurie C; Fisher, Paul G; Fogel, Brent L; Forghani, Irman; Fresard, Laure; Gahl, William A; Glass, Ian; Godfrey, Rena A
Journal of Genetic Counseling. 31(1)
Academic Journal
Birgmeier, Johannes; Haeussler, Maximilian; Deisseroth, Cole A; Steinberg, Ethan H; Jagadeesh, Karthik A; Ratner, Alexander J; Guturu, Harendra; Wenger, Aaron M; Diekhans, Mark E; Stenson, Peter D; Cooper, David N; Ré, Christopher; Beggs, Alan H; Bernstein, Jonathan A; Bejerano, Gill
Science Translational Medicine. 12(544)
Academic Journal
Mackay, Zoë P; Dukhovny, Dmitry; Phillips, Kathryn A; Beggs, Alan H; Green, Robert C; Parad, Richard B; Christensen, Kurt D; Team, BabySeq Project; Agrawal, Pankaj B; Ceyhan-Birsoy, Ozge; Fayer, Shawn; Frankel, Leslie A; Genetti, Casie A; Gutierrez, Amanda M; Harden, Maegan; Holm, Ingrid A; Krier, Joel B; Lebo, Matthew S; Machini, Kalotina; McGuire, Amy L; Naik, Medha; Nguyen, Tiffany T; Pereira, Stacey; Ramanathan, Vivek; Rehm, Heidi L; Roberts, Amy; Robinson, Jill O; Roumiantsev, Sergei; Schwartz, Talia S; Truong, Tina K; VanNoy, Grace E; Waisbren, Susan E; Yu, Timothy W
Value in Health. 23(5)
Academic Journal
Accogli, Andrea; Calabretta, Sara; St-Onge, Judith; Boudrahem-Addour, Nassima; Dionne-Laporte, Alexandre; Joset, Pascal; Azzarello-Burri, Silvia; Rauch, Anita; Krier, Joel; Fieg, Elizabeth; Pallais, Juan C; Network, Undiagnosed Diseases; Acosta, Maria T; Adams, David R; Agrawal, Pankaj; Alejandro, Mercedes E; Allard, Patrick; Alvey, Justin; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Barbouth, Deborah; Batzli, Gabriel F; Bayrak-Toydemir, Pinar; Beggs, Alan H; Bejerano, Gill; Bellen, Hugo J; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bick, David P; Birch, Camille L; Bivona, Stephanie; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E; Bostwick, Bret L; Botto, Lorenzo; Briere, Lauren C; Brokamp, Elly; Brown, Donna M; Brush, Matthew; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; 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; Dayal, Jyoti G; Dell’Angelica, Esteban C; Dhar, Shweta U; Dorrani, Naghmeh; Dorset, Daniel C; Douine, Emilie D; Draper, David D; Duncan, Laura; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L; Fisher, Paul G; Fogel, Brent L; Forghani, Irman; Fresard, Laure; 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; Hayes, Nichole
American Journal of Human Genetics. 105(4)
Academic Journal
Shashi, Vandana; Geist, Janelle; Lee, Youngha; Yoo, Yongjin; Shin, Unbeom; Schoch, Kelly; Sullivan, Jennifer; Stong, Nicholas; Smith, Edward; Jasien, Joan; Kranz, Peter; Lee, Yoonsung; Shin, Yong Beom; Wright, Nathan T; Choi, Murim; Kontrogianni‐Konstantopoulos, Aikaterini; 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; Chang, Ta Chen Peter; 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
Human Mutation. 40(8)
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