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Academic Journal
Bacino, Carlos A.; Balasubramanyam, Ashok; Burrage, Lindsay C.; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Craigen, William J.; Dai, Hongzheng; Emrick, Lisa T.; Ketkar, Shamika; Lalani, Seema R.; Lee, Brendan H.; Lewis, Richard A.; Marom, Ronit; Orengo, James P.; Posey, Jennifer E.; Potocki, Lorraine; Rosenfeld, Jill A.; Seto, Elaine; Scott, Daryl A.; Tarakad, Arjun; Tran, Alyssa A.; Vogel, Tiphanie P.; Hubshman, Monika Weisz; Worley, Kim; Bellen, Hugo J.; Wangler, Michael F.; Yamamoto, Shinya; Kanca, Oguz; Eng, Christine M.; Liu, Pengfei; Ward, Patricia A.; Behrens, Edward; Falk, Marni; Hassey, Kelly; Izumi, Kosuke; Kilich, Gonench; Sullivan, Kathleen; Vanderver, Adeline; Zhang, Zhe; Raper, Anna; Jobanputra, Vaidehi; Mikati, Mohamad; McConkie-Rosell, Allyn; Schoch, Kelly; Shashi, Vandana; Spillmann, Rebecca C.; Tan, Queenie K.-G.; Walley, Nicole M.; Beggs, Alan H.; Berry, Gerard T.; Briere, Lauren C.; Cobban, Laurel A.; Coggins, Matthew; Fieg, Elizabeth L.; High, Frances; Holm, Ingrid A.; Korrick, Susan; Loscalzo, Joseph; Maas, Richard L.; MacRae, Calum A.; Pallais, J. Carl; Rao, Deepak A.; Rodan, Lance H.; Silverman, Edwin K.; Stoler, Joan M.; Sweetser, David A.; Walker, Melissa; Douglas, Jessica; Glanton, Emily; Kobren, Shilpa N.; Kohane, Isaac S.; LeBlanc, Kimberly; Maghiro, Audrey Stephannie C.; Mahoney, Rachel; McCray, Alexa T.; Tan, Amelia L.M.; Dasari, Surendra; Lanpher, Brendan C.; Lanza, Ian R.; Morava, Eva; Oglesbee, Devin; Bademci, Guney; Barbouth, Deborah; Bivona, Stephanie; Borja, Nicholas; Gonzalez, Joanna M.; Latchman, Kumarie; Peart, LéShon; Rebelo, Adriana; Smith, Carson A.; Tekin, Mustafa; Thorson, Willa; Zuchner, Stephan; Taylor, Herman; Colley, Heather A.; Dayal, Jyoti G.; Doss, Argenia L.; Eckstein, David J.; Hutchison, Sarah; Krasnewich, Donna M.; Mamounas, Laura A.; Manolio, Teri A.; Urv, Tiina K.; Acosta, Maria T.; D'Souza, Precilla; Gropman, Andrea; Macnamara, Ellen F.; Maduro, Valerie V.; Mulvihill, John J.; Novacic, Donna; Pusey Swerdzewski, Barbara N.; Toro, Camilo; Wahl, Colleen E.; Adams, David R.; Afzali, Ben; Burke, Elizabeth A.; Davis, Joie; Delgado, Margaret; Fu, Jiayu; Gahl, William A.; Hanchard, Neil; Huang, Yan; Introne, Wendy; Jean-Marie, Orpa; Malicdan, May Christine V.; Morimoto, Marie; Petcharet, Leoyklang; Rossignol, Francis; Sabaii, Marla; Solomon, Ben; Tifft, Cynthia J.; Wolfe, Lynne A.; Wood, Heidi; Allworth, Aimee; Bamshad, Michael; Beck, Anita; Bennett, Jimmy; Blue, Elizabeth; Byers, Peter; Chanprasert, Sirisak; Cunningham, Michael; Dipple, Katrina; Doherty, Daniel; Earl, Dawn; Glass, Ian; Hing, Anne; Hisama, Fuki M.; Horike-Pyne, Martha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Kaitryn, Emerald; Lam, Christina; Miller, Danny; Mirzaa, Ghayda; Raskind, Wendy; Rosenthal, Elizabeth; Shelkowitz, Emily; Sheppeard, Sam; Stergachis, Andrew; Sybert, Virginia; Wener, Mark; Wenger, Tara; Alvarez, Raquel L.; Bejerano, Gill; Bernstein, Jonathan A.; Bonner, Devon; Coakley, Terra R.; Fisher, Paul G.; Goddard, Page C.; Halley, Meghan C.; Hom, Jason; Kohler, Jennefer N.; Kravets, Elijah; Martin, Beth A.; Marwaha, Shruti; Reuter, Chloe M.; Ruzhnikov, Maura; Sampson, Jacinda B.; Smith, Kevin S.; Sutton, Shirley; Tabor, Holly K.; Ungar, Rachel A.; Wheeler, Matthew T.; Ashley, Euan A.; Byrd, William E.; Crouse, Andrew B.; Might, Matthew; Nakano-Okuno, Mariko; Whitlock, Jordan; Butte, Manish J.; Corona, Rosario; Dell'Angelica, Esteban C.; Dorrani, Naghmeh; Douine, Emilie D.; Fogel, Brent L.; Huang, Alden; Krakow, Deborah; Loo, Sandra K.; Martin, Martin G.; Martínez-Agosto, Julian A.; McGee, Elisabeth; Nelson, Stanley F.; Nieves-Rodriguez, Shirley; Papp, Jeanette C.; Parker, Neil H.; Renteria, Genecee; Sinsheimer, Janet S.; Wan, Jijun; Alvey, Justin; Andrews, Ashley; Bale, Jim; Bohnsack, John; Botto, Lorenzo; Carey, John; Longo, Nicola; Moretti, Paolo; Pace, Laura; Quinlan, Aaron; Velinder, Matt; Viskochil, Dave; Marth, Gabor; Bayrak-Toydemir, Pinar; Mao, Rong; Westerfield, Monte; Bican, Anna; Cassini, Thomas; Corner, Brian; Hamid, Rizwan; Neumann, Serena; Phillips, John A., III; Rives, Lynette; Robertson, Amy K.; Ezell, Kimberly; Cogan, Joy D.; Hayes, Nichole; Kiley, Dana; Sisco, Kathy; Wambach, Jennifer; Wegner, Daniel; Baldridge, Dustin; Cole, F. Sessions; Pak, Stephen; Schedl, Timothy; Shin, Jimann; Solnica-Krezel, Lilianna; Moulton, Matthew J.; Atala, Kristhen; Zheng, Yiming; Dutta, Debdeep; Grange, Dorothy K.; Lin, Wen-Wen; Wegner, Daniel J.; Wambach, Jennifer A.; Duker, Angela L.; Bober, Michael B.; Kratz, Lisa; Wise, Carol A.; Oxendine, Ila; Khanshour, Anas; Rios, Jonathan
In Genetics in Medicine May 2024
Academic Journal
Cortese, Andrea; Currò, Riccardo; Ronco, Riccardo; Blake, Julian; Rossor, Alex M.; Bugiardini, Enrico; Laurà, Matilde; Warner, Tom; Yousry, Tarek; Poh, Roy; Polke, James; Rebelo, Adriana; Dohrn, Maike F.; Saporta, Mario; Houlden, Henry; Zuchner, Stephan; Reilly, Mary M.
Periodical
Pellerin, David; Del Gobbo, Giulia F.; Couse, Madeline; Dolzhenko, Egor; Nageshwaran, Sathiji K.; Cheung, Warren A.; Xu, Isaac R. L.; Dicaire, Marie-Josée; Spurdens, Guinevere; Matos-Rodrigues, Gabriel; Stevanovski, Igor; Scriba, Carolin K.; Rebelo, Adriana; Roth, Virginie; Wandzel, Marion; Bonnet, Céline; Ashton, Catherine; Agarwal, Aman; Peter, Cyril; Hasson, Dan; Tsankova, Nadejda M.; Dewar, Ken; Lamont, Phillipa J.; Laing, Nigel G.; Renaud, Mathilde; Houlden, Henry; Synofzik, Matthis; Usdin, Karen; Nussenzweig, Andre; Napierala, Marek; Chen, Zhao; Jiang, Hong; Deveson, Ira W.; Ravenscroft, Gianina; Akbarian, Schahram; Eberle, Michael A.; Boycott, Kym M.; Pastinen, Tomi; Brais, Bernard; Zuchner, Stephan; Danzi, Matt C.
Nature Genetics; 20240101, Issue: Preprints p1-5, 5p
Academic Journal
Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Müller, Juliane S; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M; Alfares, Ahmed A; Zhu, Changlian; Uhrova Meszarosova, Anna; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T; Strom, Tim M; De Jonghe, Peter; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P; Portier, Ruben; Bergmann, Carsten; Ghasemi Firouzabadi, Saghar; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W; Tran Mau-Them, Frederic; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laëtitia; Schmitt, Emmanuelle; Lacaze, Elodie; Küpper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary JH; Grand, Katheryn; Graham, John M; Lewis, Richard A; Millan, Francisca; Duman, Özgür; Dündar, Nihal; Uyanik, Gökhan; Schöls, Ludger; Nürnberg, Peter; Nürnberg, Gudrun; Catala Bordes, Andrea; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Bouçanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S; Shamseldin, Hanan; Al Tala, Saeed; Rezazadeh Varaghchi, Jamileh; Najafi, Maryam; Deschner, Selina; Gläser, Dieter; Hüttel, Wolfgang; Kruer, Michael C; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Züchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schüle, Rebecca; Horvath, Rita
Brain. 144(5)
Academic Journal
Meister-Broekema, Melanie; Freilich, Rebecca; Jagadeesan, Chandhuru; Rauch, Jennifer N; Bengoechea, Rocio; Motley, William W; Kuiper, EF Elsiena; Minoia, Melania; Furtado, Gabriel V; van Waarde, Maria AWH; Bird, Shawn J; Rebelo, Adriana; Zuchner, Stephan; Pytel, Peter; Scherer, Steven S; Morelli, Federica F; Carra, Serena; Weihl, Conrad C; Bergink, Steven; Gestwicki, Jason E; Kampinga, Harm H
Nature communications. 9(1)
Academic Journal
Cortese, Andrea; Curro, Riccardo; Ronco, Riccardo; Blake, Julian; Rossor, Alex M.; Bugiardini, Enrico; Laura, Matilde; Warner, Tom; Yousry, Tarek; Poh, Roy; Polke, James; Rebelo, Adriana; Dohrn, Maike F.; Saporta, Mario; Houlden, Henry; Zuchner, Stephan; Reilly, Mary M.
Academic Journal
Beijer, Danique; Polavarapu, Kiran; Preethish-Kumar, Veeramani; Bardhan, Mainak; Dohrn, Maike F.; Rebelo, Adriana; Züchner, Stephan; Nalini, Atchayaram
Journal of Neuromuscular Diseases; 2022, Vol. 9 Issue 2, p347-351, 5p
Academic Journal
Abrams, Alexander J; Hufnagel, Robert B; Rebelo, Adriana; Zanna, Claudia; Patel, Neville; Gonzalez, Michael A; Campeanu, Ion J; Griffin, Laurie B; Groenewald, Saskia; Strickland, Alleene V; Tao, Feifei; Speziani, Fiorella; Abreu, Lisa; Schüle, Rebecca; Caporali, Leonardo; La Morgia, Chiara; Maresca, Alessandra; Liguori, Rocco; Lodi, Raffaele; Ahmed, Zubair M; Sund, Kristen L; Wang, Xinjian; Krueger, Laura A; Peng, Yanyan; Prada, Carlos E; Prows, Cynthia A; Schorry, Elizabeth K; Antonellis, Anthony; Zimmerman, Holly H; Abdul-Rahman, Omar A; Yang, Yaping; Downes, Susan M; Prince, Jeffery; Fontanesi, Flavia; Barrientos, Antonio; Németh, Andrea H; Carelli, Valerio; Huang, Taosheng; Zuchner, Stephan; Dallman, Julia E
Nature genetics. 47(8)
Periodical
Beijer, Danique; Polavarapu, Kiran; Preethish-Kumar, Veeramani; Bardhan, Mainak; Dohrn, Maike F.; Rebelo, Adriana; Züchner, Stephan; Nalini, Atchayaram
Journal of Neuromuscular Diseases; March 2022, Vol. 9 Issue: 2 p347-351, 5p
Academic Journal
Pellerin, David; Danzi, Matt C.; Wilke, Carlo; Renaud, Mathilde; Fazal, Sarah; Dicaire, Marie-Josee; Scriba, Carolin K.; Ashton, Catherine; Yanick, Christopher; Beijer, Danique; Rebelo, Adriana; Rocca, Clarissa; Jaunmuktane, Zane; Sonnen, Joshua A.; Lariviere, Roxanne; Genis, David; Porcel, Laura Molina; Choquet, Karine; Sakalla, Rawan; Provost, Sylvie; Robertson, Rebecca; Allard-Chamard, Xavier; Tetreault, Martine; Reiling, Sarah J.; Nagy, Sara; Nishadham, Vikas; Purushottam, Meera; Vengalil, Seena; Bardhan, Mainak; Nalini, Atchayaram; Chen, Zhongbo; Mathieu, Jean; Massie, Rami; Chalk, Colin H.; Lafontaine, Anne-Louise; Evoy, Francois; Rioux, Marie-France; Ragoussis, Jiannis; Boycott, Kym M.; Dube, Marie-Pierre; Duquette, Antoine; Houlden, Henry; Ravenscroft, Gianina; Laing, Nigel G.; Lamont, Phillipa J.; Saporta, Mario A.; Schuele, Rebecca; Schoels, Ludger; La Piana, Roberta; Synofzik, Matthis; Zuchner, Stephan; Brais, Bernard
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[AR] Rebelo, Adriana
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