학술논문
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'학술논문'
에서 검색결과 162건 | 목록
1~20
Academic Journal
Reetta Kälviäinen; Zakarya Hadj‐Allal; Jarkko Kirjavainen; Reina Roivainen; Tarja Linnankivi; Jukka Peltola; Kai Eriksson; Salla Lamusuo; Tuire Lähdesmäki; Johanna Annunen; Päivi Vieira; Virpi Tarkiainen; Leena Jutila; Anni Saarela; Leena Kämppi; Liisa Metsähonkala; Eija Gaily; Niina Lähde; Jaana Antinmaa; Sini Erme; Anna‐Leena Pirttisalo; Jari Virolainen; Milla Ylijoki; Laura Kela; Jonna Komulainen‐Ebrahim; Paula Sorjonen; Finnish Severe Epilepsy Coordination Group
Epilepsia Open
Epilepsia Open, Vol 10, Iss 1, Pp 177-185 (2025)
Epilepsia Open, Vol 10, Iss 1, Pp 177-185 (2025)
Academic Journal
Berkovic, Samuel F.; Neale, Benjamin M.; Zsurka, Gábor; Zizovic, Milena; Zimprich, Fritz; Zara, Federico; Zahnert, Felix; Zagaglia, Sara; Yücesan, Emrah; Yolken, Robert; Yis, Uluc; Yapıcı, Zuhal; Yamakawa, Kazuhiro; Wu, David; von Wrede, Randi; Wong, Isaac; Wolking, Stefan; Wolff, Markus; Wolf, Steven M.; Wiebe, Samuel; Widdess-Walsh, Peter; Weckhuysen, Sarah; Weber, Yvonne G.; Watts, Nick; Wagner, Ryan G.; von Spiczak, Sarah; von Brauchitsch, Sophie; Vlčková, Markéta; Vetro, Annalisa; Vari, Maria Stella; van Baalen, Andreas; Valton, Luc; Vaidiswaran, Priya; Utkus, Algirdas; Uğur-İşeri, Sibel; Turkdogan, Dilsad; Tumiene, Birute; Tsai, Meng-Han; Topaloglu, Pınar; Todaro, Marian; Tinuper, Paolo; Timpson, Nicholas John; Timonen, Oskari; Tanteles, George A.; Taneja, Randip S.; Talkowski, Michael E.; Talarico, Mariagrazia; Suzuki, Toshimitsu; Surges, Rainer; Strzelczyk, Adam; Striano, Pasquale; Stipa, Carlotta; Stewart, William C.; Štěrbová, Katalin; Stephani, Ulrich; Steinhoff, Bernhard J.; Stamberger, Hannah; Sperling, Michael R.; Sparks, Kathryn R.; Spalletta, Gianfranco; Solomonson, Matthew; Smoller, Jordan W.; Sisodiya, Sanjay M.; Sills, Graeme J.; Siena, S. Anthony; Shiedley, Beth R.; Sham, Pak C.; Shain, Catherine; Sedláčková, Lucie; Scudieri, Paolo; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schneider, Natascha; Scheffer, Ingrid E.; Schankin, Christoph J.; Schaller, André; Schachter, Steven; Scala, Marcello; Sammarra, Ilaria; Salpietro, Vincenzo; Salmon, Andrea; Salman, Barış; Sadleir, Lynette G.; Saarela, Anni; Ryvlin, Philippe; Rosenow, Felix; Rojas, Enrique; Riva, Antonella; Ring, Susan M.; Rheims, Sylvain; Reinthaler, Eva; Reif, Andreas; Regan, Brigid M.; Rees, Mark I.; Raynes, Hillary R.; Rau, Sarah; Ramirez-Hamouz, Byron; Ragona, Francesca; Rademacher, Annika; Privitera, Michael; Powell, Robert H. W.; Posthuma, Danielle; Pondrelli, Federica; Poduri, Annapurna; Piras, Federica; Piras, Fabrizio; Pippucci, Tommaso; Pinto, Dalila; Pinsky, Rebecca; Pickrell, William O.; Petrovski, Slavé; Pennell, Page B.; Pendziwiat, Manuela; Pato, Michele; Pato, Carlos; Parrini, Elena; Papacostas, Savvas S.; Palotie, Aarno; Özkara, Çiğdem; Owusu-Agyei, Seth; O’Brien, Terence J.; Novod, Sam; Northstone, Kate; Noebels, Jeffrey L.; Newton, Charles R. J. C.; Neubauer, Bernd A.; Neaves, Samuel; Nasreddine, Wassim; Najm, Imad M.; Müller-Schlüter, Karen; Muhle, Hiltrud; Muccioli, Lorenzo; Mostacci, Barbara; Montomoli, Martino; Minardi, Raffaella; Millichap, John J.; Michel, Véronique; Mei, Davide; Meador, Kimford J.; McQuillan, Andrew; McIntosh, Andrew; McGraw, Christopher M.; McGoldrick, Patricia; McCarroll, Steven M.; McArdle, Wendy; Mayer, Thomas; May, Patrick; Matthews, Abigail G.; Marson, Anthony G.; Marques, Paula; Marcuse, Lara; Maillard, Louis; Magri, Stefania; Madia, Francesca; Madeleyn, Rene; Macedo-Souza, Lucia Inês; Lui, Colin H. T.; Lubbers, Laura; Lowther, Chelsea; Lowenstein, Daniel H.; Lo, Warren; Linnankivi, Tarja; Lin, Kuang-Lin; Lin, Chih-Hsiang; Licchetta, Laura; Liao, Calwing; Li, Gloria Hoi-Yee; Lewis-Smith, David; Lewin, Naomi; Leu, Costin; Lesca, Gaetan; Lerche, Holger; Lemke, Johannes R.; Lehesjoki, Anna-Elina; Leech, Stephanie L.; Lawthom, Charlotte; Lauxmann, Stephan; Laššuthová, Petra; Lal, Dennis; Lacey, Austin; Labate, Angelo; Vega-Talbott, Maite La; Kwan, Patrick; Kuzniecky, Ruben I.; Kurlemann, Gerhard; Kunz, Wolfram S.; Krey, Ilona; Krestel, Heinz; Krenn, Martin; Krause, Roland; Kousiappa, Ioanna; Koupparis, Andreas; Korinthenberg, Rudolf; Korczyn, Amos D.; Kok, Fernando; Knake, Susanne; Kluger, Gerhard; Klein, Karl Martin; King, Chontelle; Khoury, Jean; Khoueiry-Zgheib, Nathalie; Kesim, Yeşim; Kegele, Josua; Kariuki, Symon M.; Kara, Bulent; Kanaan, Moien; Kälviäinen, Reetta; Johnstone, Mandy; Johnson, Michael R.; Jehi, Lara; Ishii, Atsushi; Inuzuka, Luciana Midori; Inoue, Yushi; Iacomino, Michele; Hung, Po-Chen; Hucks, Donald; Howrigan, Daniel P.; Hoeper, Olivia; Ho, Chen-Jui; Hirsch, Edouard; Hirose, Shinichi; Heyne, Henrike; Hengsbach, Christian; Helbig, Ingo; Heinzen, Erin L.; Hegde, Manu; Häusler, Martin; Haryanyan, Garen; Hakonarson, Hakon; Haas, Kevin; Gupta, Namrata; Gundogdu-Eken, Aslı; Guerrini, Renzo; Greenberg, David A.; Grant, Riley; Granata, Tiziana; Goldstein, David B.; Goldman, Alica; Goldberg, Ethan; Glauser, Tracy A.; Gili, Tommaso; Giangregorio, Tania; Gauthier, Laura; Gambardella, Antonio; Gagliardi, Monica; Gabriel, Stacey; Fu, Jack M.; Freri, Elena; French, Jacqueline A.; Franceschetti, Silvana; Fortunato, Francesco; Fonferko-Shadrach, Beata; Fitzgerald, Mark; Fields, Madeline C.; Feucht, Martha; Ferri, Lorenzo; Silva, Izabela Ferreira Da; Ferraro, Thomas N.; Ferguson, Lisa; Feng, Yen-Chen Anne; Faucon, Annika; Evans, Meghan; Epstein, Leon; Ellis, Colin A.; El-Naggar, Hany; Doherty, Colin P.; Doccini, Viola; Dlugos, Dennis J.; Dickerson, Faith; Vito, Lidia Di; Devinsky, Orrin; Derambure, Philippe; Depondt, Chantal; Dennig, Dieter; Delanty, Norman; Jonghe, Peter De; Davis, Lea K.; Daly, Mark J.; Cusick, Caroline; Cotsapas, Chris; Cossette, Patrick; Cosico, Mahgenn; Cole, Andrew J.; Clark, Peggy O.; Ciullo, Valentina; Churchhouse, Claire; Chung, Seo-Kyung; Chou, I-Jun; Cheung, Ching-Lung; Cherny, Stacey S.; Cherian, Christina; Chassoux, Francine; Cerrato, Felecia; Cavalleri, Gianpiero L.; Castellotti, Barbara; Canavati, Christina; Canafoglia, Laura; Caglayan, S. Hande; Busch, Robyn M.; Buono, Russell J.; Brockmann, Knut; Brand, Harrison; Braatz, Vera; Bosselmann, Christian; Borggräfe, Ingo; Blatt, Ilan; Blackwood, Douglas; Bisulli, Francesca; Bianchini, Claudia; Beydoun, Ahmad; Bennett, Caitlin A.; Becker, Felicitas; Bebek, Nerses; Baykan, Betül; Baumgartner, Tobias H.; Baum, Larry W.; Bass, Nick; Bartolomei, Fabrice; Barboza, Karen; Barba, Carmen; Banks, Eric; Balestrini, Simona; Balagura, Ganna; Baker, Mark D.; Bahlo, Melanie; Auce, Pauls; Arslan, Mutluay; Annesi, Grazia; Andrade, Danielle M.; Anderson, Joe; Anderson, Alison; Amadori, Elisabetta; Ali, Quratulain Zulfiqar; Afawi, Zaid; Abou-Khalil, Bassel W.; Chen, Siwei
Nature Neuroscience. 27(10):1864-1879
Academic Journal
In Epilepsy & Behavior June 2025 167
Academic Journal
Amadori, Elisabetta; Andrade, Danielle M.; Annesi, Grazia; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Barboza, Karen; Baumgartner, Tobias H.; Baykan, Betül; Bebek, Nerses; Becker, Felicitas; Bennett, Caitlin A.; Berkovic, Samuel F.; Beydoun, Ahmad; Bisulli, Francesca; Borggräfe, Ingo; Bosselmann, Christian; Busch, Robyn M.; Canafoglia, Laura; Castellotti, Barbara; Chou, I-Jun; Chung, Seo-Kyung; Cotsapas, Chris; Devinsky, Orrin; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; Ellis, Colin A.; El-Naggar, Hany; Evans, Meghan; Ferraro, Thomas N.; Fitzgerald, Mark; Fortunato, Francesco; French, Jacqueline A.; Freri, Elena; Gagliardi, Monica; Gambardella, Antonio; Goldman, Alica; Granata, Tiziana; Gupta, Namrata; Haas, Kevin; Hirose, Shinichi; Hoeper, Olivia; Hung, Po-Chen; Johnson, Michael R.; Khoueiry-Zgheib, Nathalie; Khoury, Jean; Klein, Karl Martin; Knake, Susanne; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Kunz, Wolfram S.; Kuzniecky, Ruben I.; Kwan, Patrick; Labate, Angelo; Lacey, Austin; Lal, Dennis; Lauxmann, Stephan; Lawthom, Charlotte; Lerche, Holger; Leu, Costin; Lewis-Smith, David; Liao, Calwing; Lin, Chih-Hsiang; Lin, Kuang-Lin; Linnankivi, Tarja; Lowenstein, Daniel H.; Lui, Colin H.T.; Madia, Francesca; Magri, Stefania; Maillard, Louis; Manna, Lorella; Marques, Paula; Mayer, Thomas; McGraw, Christopher M.; Meador, Kimford J.; Mei, Davide; Minardi, Raffaella; Mostacci, Barbara; Muccioli, Lorenzo; Müller-Schlüter, Karen; Nasreddine, Wassim; Neale, Benjamin M.; Neubauer, Bernd A.; Papacostas, Savvas S.; Parrini, Elena; Pendziwiat, Manuela; Petrovski, Slavé; Pickrell, William O.; Powell, Robert H.W.; Ragona, Francesca; Rees, Mark I.; Rheims, Sylvain; Riva, Antonella; Rosenow, Felix; Ryvlin, Philippe; Sadleir, Lynette G.; Salman, Barış; Salmon, Andrea; Sammarra, Ilaria; Scala, Marcello; Scheffer, Ingrid E.; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Shiedley, Beth R.; Sisodiya, Sanjay M.; Sperling, Michael R.; Steinhoff, Bernhard J.; Stephani, Ulrich; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Taneja, Randip S.; Tanteles, George A.; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; von Wrede, Randi; Wagner, Ryan G.; Weber, Yvonne G.; Weckhuysen, Sarah; Widdess-Walsh, Peter; Wiebe, Samuel; Wolking, Stefan; Yamakawa, Kazuhiro; Yapıcı, Zuhal; Zahnert, Felix; Zara, Federico; Zizovic, Milena; Zsurka, Gábor; Ali, Quratulain Zulfiqar; Auce, Pauls; Avbersek, Andreja; Balling, Rudi; Berghuis, Bianca; Borghei, Mojgansadat; Brodie, Martin J.; Campbell, Ellen; Cavalleri, Gianpiero L.; Chinthapalli, Krishna; Coppola, Antonietta; Craig, John; Delanty, Norman; Demurtas, Rita; Depondt, Chantal; Francis, Ben; Gudmundsson, Lárus J.; Heggeli, Kristin; Hengsbach, Christian; Hutton, Jane L.; Ingason, Andrés; Jorgensen, Andrea; Klein, Karl M.; Koeleman, Bobby P.C.; Krenn, Martin; Langley, Sarah R.; Marson, Anthony G.; McCormack, Mark; Møller, Rikke S.; Morris, Andrew; Muhle, Hiltrud; Nikanorova, Marina; O'Brien, Terence J.; Petrovski, Slave; Rau, Sarah; Rener-Primec, Zvonka; Sander, Josemir W.; Sargsyan, Narek; Schneider, Reinhard; Sills, Graeme J.; Speed, Doug; Srivastava, Prashant K.; Stefansson, Hreinn; Stefánsson, Kári; Todaro, Marian; Willis, Joseph; Zimprich, Fritz; Stevelink, Remi ; Custodio, Helena Martins ; Chen, Siwei ; Jonsson, Lina ; Unnsteinsdóttir, Unnur ; Jorgensen, Andrea L. ; Craig, John J. ; Hassanin, Emadeldin ; Omidvar, Maryam Erfanian ; Stefansson, Kari ; May, Patrick
In eBioMedicine May 2025 115
Academic Journal
Henna Jonsson; Eija Gaily; Susanna Stjerna; Tarja Joensuu; Mridul Johari; Anna‐Elina Lehesjoki; Tarja Linnankivi
Epilepsia Open, Vol 9, Iss 4, Pp 1393-1405 (2024)
Academic Journal
Yang, Fang ; Begemann, Anais ; Reichhart, Nadine ; Haeckel, Akvile ; Steindl, Katharina ; Schellenberger, Eyk ; Sturm, Ronja Fini ; Barth, Magalie ; Bassani, Sissy ; Boonsawat, Paranchai ; Courtin, Thomas ; Delobel, Bruno ; Gunning, Boudewijn ; Hardies, Katia ; Jennesson, Mélanie ; Legoff, Louis ; Linnankivi, Tarja ; Prouteau, Clément ; Smal, Noor ; Spodenkiewicz, Marta ; Toelle, Sandra P. ; Van Gassen, Koen ; Van Paesschen, Wim ; Verbeek, Nienke ; Ziegler, Alban ; Zweier, Markus ; Horn, Anselm H.C. ; Sticht, Heinrich ; Lerche, Holger ; Weckhuysen, Sarah ; Strauß, Olaf ; Rauch, Anita
In The American Journal of Human Genetics 6 June 2024 111(6):1184-1205
Academic Journal
Lyu, Hang ; Boßelmann, Christian M. ; Johannesen, Katrine M. ; Koko, Mahmoud ; Ortigoza-Escobar, Juan Dario ; Aguilera-Albesa, Sergio ; Garcia-Navas Núñez, Deyanira ; Linnankivi, Tarja ; Gaily, Eija ; van Ruiten, Henriette J.A. ; Richardson, Ruth ; Betzler, Cornelia ; Horvath, Gabriella ; Brilstra, Eva ; Geerdink, Niels ; Orsucci, Daniele ; Tessa, Alessandra ; Gardella, Elena ; Fleszar, Zofia ; Schöls, Ludger ; Lerche, Holger ; Møller, Rikke S. ; Liu, Yuanyuan
In eBioMedicine December 2023 98
Academic Journal
Joshua E. Motelow; Gundula Povysil; Ryan S. Dhindsa; Kate E. Stanley; Andrew S. Al- len; Yen-Chen Anne Feng; Daniel P. Howrigan; Liam E. Abbott; Ka- therine Tashman; Felecia Cerrato; Caroline Cusick; Tarjinder Singh; Henrike Heyne; Andrea E. Byrnes; Claire Churchhouse; Nick Watts; Matthew Solomonson; Dennis Lal; Namrata Gupta; Benjamin M. Neale; Gianpiero L. Cavalleri; Patrick Cossette; Chris Cotsapas; Peter De Jonghe; Tracy Dixon-Salazar; Renzo Guerrini; Hakon Hakonarson; Erin L. Heinzen; Ingo Helbig; Patrick Kwan; Anthony G. Marson; Slave ? Petrovski; Sitharthan Kamalakaran; Sanjay M. Sisodiya; Randy Stewart; Sarah Weckhuysen; Chantal Depondt; Dennis J. Dlugos; Ingrid E. Scheffer; Pasquale Striano; Catharine Freyer; Roland Krause; Patrick May; Kevin McKenna; Brigid M. Regan; Caitlin A. Bennett; Costin Leu; Stephanie L. Leech; Terence J. O'Brien; Marian Todaro; Hannah Stamberger; Danielle M. Andrade; Quratulain Zulfiqar Ali; Tara R. Sadoway; Heinz Krestel; Andre ? Schaller; Savvas S. Papacostas; Ioanna Kou- siappa; George A. Tanteles; Yiolanda Christou; Katalin Sterbova ?; Marke ? ta Vlckova ?; Lucie Sedlackova; Petra Lassuthova ?; Karl Martin Klein; Felix Rosenow; Philipp S. Reif; Susanne Knake; Bernd A. Neubauer; Friedrich Zimprich; Martha Feucht; Eva M. Reinthaler; Wolfram S. Kunz; Ga ?bor Zsurka; Rainer Surges; Tobias Baumgart- ner; Randi von Wrede; Manuela Pendziwiat; Hiltrud Muhle; An- nika Rademacher; Andreas van Baalen; Sarah von Spiczak; Ulrich Stephani; Zaid Afawi; Amos D. Korczyn; Moien Kanaan; Christina Canavati; Gerhard Kurlemann; Karen Mu ?ller-Schlu ?ter; Gerhard Kluger; Martin Ha ?usler; Ilan Blatt; Johannes R. Lemke; Ilona Krey; Yvonne G. Weber; Stefan Wolking; Felicitas Becker; Stephan Lauxmann; Christian Boßelmann; Josua Kegele; Christian Hengs- bach; Sarah Rau; Bernhard J. Steinhoff; Andreas Schulze-Bonhage; IngoBorggra ?fe; ChristophJ.Schankin; SusanneSchubert-Bast; Herbert Schreiber; Thomas Mayer; Rudolf Korinthenberg; Knut Brockmann; Markus Wolff; Dieter Dennig; Rene Madeleyn; Reetta Ka ?lvia ?inen; Anni Saarela; Oskari Timonen; Tarja Linnankivi; Anna-Elina Lehesjoki; Sylvain Rheims; Gaetan Lesca; Philippe Ryvlin; Louis Maillard; Luc Valton; Philippe Derambure; Fabrice Bartolomei; Edouard Hirsch; Ve ?ronique Michel; Francine Chas- soux; Mark I. Rees; Seo-Kyung Chung; William O. Pickrell; Robert Powell; Mark D. Baker; Beata Fonferko-Shadrach; Charlotte Law- thom; Joseph Anderson; Natascha Schneider; Simona Balestrini; Sara Zagaglia; Vera Braatz; Michael R. Johnson; Pauls Auce; Graeme J. Sills; Larry W. Baum; Pak C. Sham; Stacey S. Cherny; Colin H.T. Lui; Norman Delanty; Colin P. Doherty; Arif Shukralla; Hany El-Naggar; Peter Widdess-Walsh; Nina Barisic; Laura 12 The American Journal of Human Genetics 108; 1-18; June 3; 2021 Please cite this article in press as: Epi25 Collaborative; Sub-genic intolerance; ClinVar; the epilepsies: A whole-exome sequencing study of 29; 165 individuals; The American Journal of Human Genetics (2021); https://doi.org/10.1016/j.ajhg.2021.04.009 Canafoglia; Silvana Franceschetti; Barbara Castellotti; Tiziana Granata; Francesca Ragona; Federico Zara; Michele Iacomino; An- tonella Riva; Francesca Madia; Maria Stella Vari; Vincenzo Salpie- tro; Marcello Scala; Maria Margherita Mancardi; Lino Nobili; Elisa- betta Amadori; Thea Giacomini; Francesca Bisulli; Tommaso Pippucci; Laura Licchetta; Raffaella Minardi; Paolo Tinuper; Lor- enzo Muccioli; Barbara Mostacci; Antonio Gambardella; Angelo Labate; Grazia Annesi; Lorella Manna; Monica Gagliardi; Elena Parrini; Davide Mei; Annalisa Vetro; Claudia Bianchini; Martino Montomoli; Viola Doccini; Carmen Barba; Shinichi Hirose; At- sushi Ishii; Toshimitsu Suzuki; Yushi Inoue; Kazuhiro Yamakawa; Ahmad Beydoun; Wassim Nasreddine; Nathalie Khoueiry Zgheib; Birute Tumiene; Algirdas Utkus; Lynette G. Sadleir; Chontelle King; S. Hande Caglayan; Mutluay Arslan; Zuhal Yap?c?; P?nar To- paloglu; Bulent Kara; Uluc Yis; Dilsad Turkdogan; Asl? Gun- dogdu-Eken; Nerses Bebek; Meng-Han Tsai; Chen-Jui Ho; Chih- Hsiang Lin; Kuang-Lin Lin; I-Jun Chou; Annapurna Poduri; Beth R. Shiedley; Catherine Shain; Jeffrey L. Noebels; Alicia Goldman; Robyn M. Busch; Lara Jehi; Imad M. Najm; Lisa Ferguson; Jean Khoury; Tracy A. Glauser; Peggy O. Clark; Russell J. Buono; Thomas N. Ferraro; Michael R. Sperling; Warren Lo; Michael Privitera; Jac- queline A. French; Steven Schachter; Ruben I. Kuzniecky; Orrin Devinsky; Manu Hegde; David A. Greenberg; Colin A. Ellis; Ethan Goldberg; Katherine L. Helbig; Mahgenn Cosico; Priya Vaidis- waran; Eryn Fitch; Samuel F. Berkovic; Holger Lerche; Daniel H. Lowenstein; David B. Goldstein.
American journal of human genetics (2021). doi:10.1016/j.ajhg.2019.05.020
info:cnr-pdr/source/autori:Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Al-len, Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Ka-therine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea E. Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon-Salazar, Renzo Guerrini, Hakon Hakonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G. Marson, Slave ? Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis J. Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin McKenna, Brigid M. Regan, Caitlin A. Bennett, Costin Leu, Stephanie L. Leech, Terence J. O'Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara R. Sadoway, Heinz Krestel, Andre ? Schaller, Savvas S. Papacostas, Ioanna Kou-siappa, George A. Tanteles, Yiolanda Christou, Katalin Sterbova ?, Marke ? ta Vlckova ?, Lucie Sedlackova, Petra Lassuthova ?, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Friedrich Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Ga ?bor Zsurka, Rainer Surges, Tobias Baumgart-ner, Randi von Wrede, Manuela Pendziwiat, Hiltrud Muhle, An-nika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Mu ?ller-Schlu ?ter, Gerhard Kluger, Martin Ha ?usler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian Boßelmann, Josua Kegele, Christian Hengs-bach, Sarah Rau, Bernhard J. Steinhoff, Andreas Schulze-Bonhage, IngoBorggra ?fe,ChristophJ.Schankin,SusanneSchubert-Bast, Herbert Schreiber, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Markus Wolff, Dieter Dennig, Rene Madeleyn, Reetta Ka ?lvia ?inen, Anni Saarela, Oskari Timonen,Tarja Linnankivi , Anna-Elina Lehesjoki, Sylvain Rheims, Gaetan Lesca, Philippe Ryvlin, Louis Maillard, Luc Valton, Philippe Derambure, Fabrice Bartolomei, Edouard Hirsch, Ve ?ronique Michel, Francine Chas-soux, Mark I. Rees, Seo-Kyung Chung, William O. Pickrell, Robert Powell, Mark D. Baker, Beata Fonferko-Shadrach, Charlotte Law-thom, Joseph Anderson, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce, Graeme J. Sills, Larry W. Baum, Pak C. Sham, Stacey S. Cherny, Colin H.T. Lui, Norman Delanty, Colin P. Doherty, Arif Shukralla, Hany El-Naggar, Peter Widdess-Walsh, Nina Barisic, Laura 12 The American Journal of Human Genetics 108, 1-18, June 3, 2021 Please cite this article in press as: Epi25 Collaborative, Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals, The American Journal of Human Genetics (2021), https:%2F%2Fdoi.org%2F10.1016%2Fj.ajhg.2021.04.009 Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Francesca Ragona, Federico Zara, Michele Iacomino, An-tonella Riva, Francesca Madia, Maria Stella Vari, Vincenzo Salpie-tro, Marcello Scala, Maria Margherita Mancardi, Lino Nobili, Elisa-betta Amadori, Thea Giacomini, Francesca Bisulli, Tommaso Pippucci, Laura Licchetta, Raffaella Minardi, Paolo Tinuper, Lor-enzo Muccioli, Barbara Mostacci, Antonio Gambardella, Angelo Labate, Grazia Annesi, Lorella Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carmen Barba, Shinichi Hirose, At-sushi Ishii, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Ahmad Beydoun, Wassim Nasreddine, Nathalie Khoueiry Zgheib, Birute Tumiene, Algirdas Utkus, Lynette G. Sadleir, Chontelle King, S. Hande Caglayan, Mutluay Arslan, Zuhal Yap?c?, P?nar To-paloglu, Bulent Kara, Uluc Yis, Dilsad Turkdogan, Asl? Gun-dogdu-Eken, Nerses Bebek, Meng-Han Tsai, Chen-Jui Ho, Chih-Hsiang Lin, Kuang-Lin Lin, I-Jun Chou, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Jeffrey L. Noebels, Alicia Goldman, Robyn M. Busch, Lara Jehi, Imad M. Najm, Lisa Ferguson, Jean Khoury, Tracy A. Glauser, Peggy O. Clark, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren Lo, Michael Privitera, Jac-queline A. French, Steven Schachter, Ruben I. Kuzniecky, Orrin Devinsky, Manu Hegde, David A. Greenberg, Colin A. Ellis, Ethan Goldberg, Katherine L. Helbig, Mahgenn Cosico, Priya Vaidis-waran, Eryn Fitch, Samuel F. Berkovic, Holger Lerche, Daniel H. Lowenstein, and David B. Goldstein./titolo:Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals/doi:10.1016%2Fj.ajhg.2019.05.020/rivista:American journal of human genetics/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume
The American journal of human genetics
info:cnr-pdr/source/autori:Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Al-len, Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Ka-therine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea E. Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon-Salazar, Renzo Guerrini, Hakon Hakonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G. Marson, Slave ? Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis J. Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin McKenna, Brigid M. Regan, Caitlin A. Bennett, Costin Leu, Stephanie L. Leech, Terence J. O'Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara R. Sadoway, Heinz Krestel, Andre ? Schaller, Savvas S. Papacostas, Ioanna Kou-siappa, George A. Tanteles, Yiolanda Christou, Katalin Sterbova ?, Marke ? ta Vlckova ?, Lucie Sedlackova, Petra Lassuthova ?, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Friedrich Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Ga ?bor Zsurka, Rainer Surges, Tobias Baumgart-ner, Randi von Wrede, Manuela Pendziwiat, Hiltrud Muhle, An-nika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Mu ?ller-Schlu ?ter, Gerhard Kluger, Martin Ha ?usler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian Boßelmann, Josua Kegele, Christian Hengs-bach, Sarah Rau, Bernhard J. Steinhoff, Andreas Schulze-Bonhage, IngoBorggra ?fe,ChristophJ.Schankin,SusanneSchubert-Bast, Herbert Schreiber, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Markus Wolff, Dieter Dennig, Rene Madeleyn, Reetta Ka ?lvia ?inen, Anni Saarela, Oskari Timonen,
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Benedetta Kassabian; Christina Dühring Fenger; Marjolaine Willems; Angel Aledo-Serrano; Tarja Linnankivi; Pamela Pojomovsky McDonnell; Laina Lusk; Birgit Susanne Jepsen; Michael Bayat; Anja A. Kattentidt-Mouravieva; Anna Abulí Vidal; Gabriel Valero-Lopez; Helena Alarcon-Martinez; Kimberly Goodspeed; Marjon van Slegtenhorst; Tahsin Stefan Barakat; Rikke S. Møller; Katrine M. Johannesen; Guido Rubboli
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Feng, Yen-Chen Anne; Howrigan, Daniel P; Abbott, Liam E; Tashman, Katherine; Cerrato, Felecia; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Heinzen, Erin L; Dhindsa, Ryan S; Stanley, Kate E; Cavalleri, Gianpiero L; Hakonarson, Hakon; Helbig, Ingo; Krause, Roland; May, Patrick; Weckhuysen, Sarah; Petrovski, Slavé; Kamalakaran, Sitharthan; Sisodiya, Sanjay M; Cossette, Patrick; Cotsapas, Chris; DeJonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Kwan, Patrick; Marson, Anthony G; Stewart, Randy; Depondt, Chantal; Dlugos, Dennis J; Scheffer, Ingrid E; Striano, Pasquale; Freyer, Catharine; McKenna, Kevin; Regan, Brigid M; Bellows, Susannah T; Leu, Costin; Bennett, Caitlin A; Johns, Esther M C; Macdonald, Alexandra; Shilling, Hannah; Burgess, Rosemary; Weckhuysen, Dorien; Bahlo, Melanie; O'Brien, Terence J; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M; Sadoway, Tara R; Mo, Kelly; Krestel, Heinz; Gallati, Sabina; Papacostas, Savvas S; Kousiappa, Ioanna; Tanteles, George A; Štěrbová, Katalin; Vlčková, Markéta; Sedláčková, Lucie; Laššuthová, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S; Knake, Susanne; Kunz, Wolfram S; Zsurka, Gábor; Elger, Christian E; Bauer, Jürgen; Rademacher, Michael; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; vanBaalen, Andreas; vonSpiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Müller-Schlüter, Karen; Kluger, Gerhard; Häusler, Martin; Blatt, Ilan; Lemke, Johannes R; Krey, Ilona; Weber, Yvonne G; Wolking, Stefan; Becker, Felicitas; Hengsbach, Christian; Rau, Sarah; Maisch, Ana F; Steinhoff, Bernhard J; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schreiber, Herbert; Borggräfe, Ingo; Schankin, Christoph J; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Dennig, Dieter; Madeleyn, Rene; Kälviäinen, Reetta; Auvinen, Pia; Saarela, Anni; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rees, Mark I; Chung, Seo-Kyung; Pickrell, William O; Powell, Robert; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R; Auce, Pauls; Sills, Graeme J; Baum, Larry W; Sham, Pak C; Cherny, Stacey S; Lui, Colin H T; Barišić, Nina; Delanty, Norman; Doherty, Colin P; Shukralla, Arif; McCormack, Mark; El-Naggar, Hany; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Zara, Federico; Iacomino, Michele; Madia, Francesca; Vari, Maria Stella; Mancardi, Maria Margherita; Salpietro, Vincenzo; Bisulli, Francesca; Tinuper, Paolo; Licchetta, Laura; Pippucci, Tommaso; Stipa, Carlotta; Minardi, Raffaella; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Marini, Carla; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Tumiene, Birute; Sadleir, Lynette G; King, Chontelle; Mountier, Emily; Caglayan, Hande S; Arslan, Mutluay; Yapıcı, Zuhal; Yis, Uluc; Topaloglu, Pınar; Kara, Bulent; Turkdogan, Dilsad; Gundogdu-Eken, Aslı; Bebek, Nerses; Uğur-İşeri, Sibel; Baykan, Betül; Salman, Barış; Haryanyan, Garen; Yücesan, Emrah; Kesim, Yeşim; Özkara, Çiğdem; Poduri, Annapurna; Shiedley, Beth R; Shain, Catherine; Buono, Russell J; Ferraro, Thomas N; Sperling, Michael R; Lo, Warren; Privitera, Michael; French, Jacqueline A; Schachter, Steven; Kuzniecky, Ruben I; Devinsky, Orrin; Hegde, Manu; Khankhanian, Pouya; Helbig, Katherine L; Ellis, Colin A; Spalletta, Gianfranco; Piras, Fabrizio; Piras, Federica; Gili, Tommaso; Ciullo, Valentina; Reif, Andreas; McQuillin, Andrew; Bass, Nick; McIntosh, Andrew; Blackwood, Douglas; Johnstone, Mandy; Palotie, Aarno; Pato, Michele T; Pato, Carlos N; Bromet, Evelyn J; Carvalho, Celia Barreto; Achtyes, Eric D; Azevedo, Maria Helena; Kotov, Roman; Lehrer, Douglas S; Malaspina, Dolores; Marder, Stephen R; Medeiros, Helena; Morley, Christopher P; Perkins, Diana O; Sobell, Janet L; Buckley, Peter F; Macciardi, Fabio; Rapaport, Mark H; Knowles, James A; Cohort, Genomic Psychiatry; Fanous, Ayman H; McCarroll, Steven A; Gupta, Namrata; Gabriel, Stacey B; Daly, Mark J; Lander, Eric S; Lowenstein, Daniel H; Goldstein, David B; Lerche, Holger; Berkovic, Samuel F; Neale, Benjamin M; Koko, Mahmoud ; Sander, Thomas ; Bobbili, Dheeraj Reddy ; Nothnagel, Michael
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Benedetta Kassabian; Christina Dühring Fenger; Marjolaine Willems; Angel Aledo-Serrano; Tarja Linnankivi; Pamela Pojomovsky McDonnell; Laina Lusk; Birgit Susanne Jepsen; Michael Bayat; Anja A. Kattentidt-Mouravieva; Anna Abulí Vidal; Gabriel Valero-Lopez; Helena Alarcon-Martinez; Kimberly Goodspeed; Marjon van Slegtenhorst; Tahsin Stefan Barakat; Rikke S. Møller; Katrine M. Johannesen; Guido Rubboli
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Frontiers in Neuroscience, Vol 17 (2023)
Frontiers in Neuroscience, Vol 17 (2023)
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Laura A. Adang; Amy Pizzino; Alka Malhotra; Holly Dubbs; Catherine Williams; Omar Sherbini; Anna-Kaisa Anttonen; Gaetan Lesca; Tarja Linnankivi; Chloé Laurencin; Matthieu Milh; Charles Perrine; Christian P. Schaaf; Anne-Lise Poulat; Dorothee Ville; Tanner Hagelstrom; Denise L. Perry; Ryan J. Taft; Amy Goldstein; Arastoo Vossough; Ingo Helbig; Adeline Vanderver
Pediatric Neurology. 109:56-62
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Järvelä, Irma; Määttä, Tuomo; Acharya, Anushree; Leppälä, Juha; Jhangiani, Shalini N.; Arvio, Maria; Siren, Auli; Kankuri-Tammilehto, Minna; Kokkonen, Hannaleena; Palomäki, Maarit; Varilo, Teppo; Fang, Mary; Hadley, Trevor D.; Jolly, Angad; Linnankivi, Tarja; Paetau, Ritva; Saarela, Anni; Kälviäinen, Reetta; Olme, Jan; Nouel-Saied, Liz M.; Cornejo-Sanchez, Diana M.; Llaci, Lorida; Lupski, James R.; Posey, Jennifer E.; Leal, Suzanne M.; Schrauwen, Isabelle
Human Genetics. 140(7):1011-1029
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Katrine M. Johannesen; Elena Gardella; Alejandra C. Encinas; Anna‐Elina Lehesjoki; Tarja Linnankivi; Michael B. Petersen; Ida Charlotte Bay Lund; Susanne Blichfeldt; Maria J. Miranda; Deb K. Pal; Karine Lascelles; Peter Procopis; Alessandro Orsini; Alice Bonuccelli; Thea Giacomini; Ingo Helbig; Christina D. Fenger; Sanjay M. Sisodiya; Laura Hernandez‐Hernandez; Sundararaman Krithika; Melissa Rumple; Silvia Masnada; Marialuisa Valente; Cristina Cereda; Lucio Giordano; Patrizia Accorsi; Sarah E. Bürki; Margherita Mancardi; Christian Korff; Renzo Guerrini; Sarah von Spiczak; Dorota Hoffman‐Zacharska; Tomasz Mazurczak; Antonietta Coppola; Salvatore Buono; Marilena Vecchi; Michael F. Hammer; Costanza Varesio; Pierangelo Veggiotti; Dennis Lal; Tobias Brünger; Federico Zara; Pasquale Striano; Guido Rubboli; Rikke S. Møller
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A-E, Linnankivi , T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D, Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, 'The spectrum of intermediate SCN8A-related epilepsy', Epilepsia, vol. 60, no. 5, pp. 830-844. https://doi.org/10.1111/epi.14705
Epilepsia, Vol. 60, No 5 (2019) pp. 830-844
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A E,Linnankivi , T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D, Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, ' The spectrum of intermediate SCN8A-related epilepsy ', Epilepsia, vol. 60, no. 5, pp. 830-844 . https://doi.org/10.1111/epi.14705
Epilepsia, Vol. 60, No 5 (2019) pp. 830-844
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A E,
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
Academic Journal
Feng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Heinzen, Erin L.; Dhindsa, Ryan S.; Stanley, Kate E.; Cavalleri, Gianpiero L.; Hakonarson, Hakon; Helbig, Ingo; Krause, Roland; May, Patrick; Weckhuysen, Sarah; Petrovski, Slavé; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Kwan, Patrick; Marson, Anthony G.; Stewart, Randy; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; McKenna, Kevin; Regan, Brigid M.; Bellows, Susannah T.; Leu, Costin; Bennett, Caitlin A.; Johns, Esther M.C.; Macdonald, Alexandra; Shilling, Hannah; Burgess, Rosemary; Weckhuysen, Dorien; Bahlo, Melanie; O’Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Sadoway, Tara R.; Mo, Kelly; Krestel, Heinz; Gallati, Sabina; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Štěrbová, Katalin; Vlčková, Markéta; Sedláčková, Lucie; Laššuthová, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Kunz, Wolfram S.; Zsurka, Gábor; Elger, Christian E.; Bauer, Jürgen; Rademacher, Michael; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Müller-Schlüter, Karen; Kluger, Gerhard; Häusler, Martin; Blatt, Ilan; Lemke, Johannes R.; Krey, Ilona; Weber, Yvonne G.; Wolking, Stefan; Becker, Felicitas; Hengsbach, Christian; Rau, Sarah; Maisch, Ana F.; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schreiber, Herbert; Borggräfe, Ingo; Schankin, Christoph J.; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Dennig, Dieter; Madeleyn, Rene; Kälviäinen, Reetta; Auvinen, Pia; Saarela, Anni; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rees, Mark I.; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R.; Auce, Pauls; Sills, Graeme J.; Baum, Larry W.; Sham, Pak C.; Cherny, Stacey S.; Lui, Colin H.T.; Barišić, Nina; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; McCormack, Mark; El-Naggar, Hany; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Zara, Federico; Iacomino, Michele; Madia, Francesca; Vari, Maria Stella; Mancardi, Maria Margherita; Salpietro, Vincenzo; Bisulli, Francesca; Tinuper, Paolo; Licchetta, Laura; Pippucci, Tommaso; Stipa, Carlotta; Minardi, Raffaella; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Marini, Carla; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Tumiene, Birute; Sadleir, Lynette G.; King, Chontelle; Mountier, Emily; Caglayan, S. Hande; Arslan, Mutluay; Yapıcı, Zuhal; Yis, Uluc; Topaloglu, Pınar; Kara, Bulent; Turkdogan, Dilsad; Gundogdu-Eken, Aslı; Bebek, Nerses; Uğur-İşeri, Sibel; Baykan, Betül; Salman, Barış; Haryanyan, Garen; Yücesan, Emrah; Kesim, Yeşim; Özkara, Çiğdem; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Buono, Russell J.; Ferraro, Thomas N.; Sperling, Michael R.; Lo, Warren; Privitera, Michael; French, Jacqueline A.; Schachter, Steven; Kuzniecky, Ruben I.; Devinsky, Orrin; Hegde, Manu; Khankhanian, Pouya; Helbig, Katherine L.; Ellis, Colin A.; Spalletta, Gianfranco; Piras, Fabrizio; Piras, Federica; Gili, Tommaso; Ciullo, Valentina; Reif, Andreas; McQuillin, Andrew; Bass, Nick; McIntosh, Andrew; Blackwood, Douglas; Johnstone, Mandy; Palotie, Aarno; Pato, Michele T.; Pato, Carlos N.; Bromet, Evelyn J.; Carvalho, Celia Barreto; Achtyes, Eric D.; Azevedo, Maria Helena; Kotov, Roman; Lehrer, Douglas S.; Malaspina, Dolores; Marder, Stephen R.; Medeiros, Helena; Morley, Christopher P.; Perkins, Diana O.; Sobell, Janet L.; Buckley, Peter F.; Macciardi, Fabio; Rapaport, Mark H.; Knowles, James A.; Fanous, Ayman H.; McCarroll, Steven A.; Gupta, Namrata; Gabriel, Stacey B.; Daly, Mark J.; Lander, Eric S.; Lowenstein, Daniel H.; Goldstein, David B.; Lerche, Holger; Berkovic, Samuel F.; Neale, Benjamin M.
In The American Journal of Human Genetics 1 August 2019 105(2):267-282
Academic Journal
Balling, Rudi; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jähn, Johanna; Klein, Karl Martin; Koeleman, Bobby P.C.; Komarek, Vladimir; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Linnankivi, Tarja; Marini, Carla; May, Patrick; Muhle, Hiltrud; Pal, Deb K.; Palotie, Aarno; Rosenow, Felix; Schubert-Bast, Susanne; Selmer, Kaja; Serratosa, Jose M.; Sisodiya, Sanjay; Stephani, Ulrich; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weckhuysen, Sarah; Zara, Federico; Avillach, Paul; Bartels, Anna; Biswas, Sawona; Bourgeois, Florence; Devkota, Batsal; Glauser, Tracy; Hallinan, Barbara; Heath, Allison; Hirschhorn, Joel; Kilbourn, Judson; Kong, Sek Won; Krantz, Ian; Lee, In-Hee; Mandl, Kenneth D.; Marsh, Eric; Sund, Kristen; Taylor, Deanne; White, Peter; Helbig, Ingo ; Lopez-Hernandez, Tania ; Shor, Oded ; Galer, Peter ; Ganesan, Shiva ; Pendziwiat, Manuela ; Rademacher, Annika ; Ellis, Colin A. ; Hümpfer, Nadja ; Schwarz, Niklas ; Seiffert, Simone ; Peeden, Joseph ; Shen, Joseph ; Štěrbová, Katalin ; Hammer, Trine Bjørg ; Møller, Rikke S. ; Shinde, Deepali N. ; Tang, Sha ; Smith, Lacey ; Poduri, Annapurna ; Krause, Roland ; Benninger, Felix ; Helbig, Katherine L. ; Haucke, Volker ; Weber, Yvonne G.
In The American Journal of Human Genetics 6 June 2019 104(6):1060-1072
Academic Journal
Human Mutation. 37:884-888
Academic Journal
Heyne, Henrike O.; Singh, Tarjinder; Stamberger, Hannah; Abou Jamra, Rami; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Guerrini, Renzo; Helbig, Katherine L.; Koeleman, Bobby P. C.; Kosmicki, Jack A.; Linnankivi, Tarja; May, Patrick; Muhle, Hiltrud; Møller, Rikke S.; Neubauer, Bernd A.; Palotie, Aarno; Pendziwiat, Manuela; Striano, Pasquale; Tang, Sha; Wu, Sitao; EuroEPINOMICS RES Consortium; Poduri, Annapurna; Weber, Yvonne G.; Weckhuysen, Sarah; Sisodiya, Sanjay M.; Daly, Mark J.; Helbig, Ingo; Lal, Dennis; Lemke, Johannes R.
Nature Genetics. 50(7):1048-1053
Academic Journal
Hang Lyu; Christian M Boßelmann; Katrine M Johannesen; Mahmoud Koko; Juan Dario Ortigoza-Escobar; Sergio Aguilera-Albesa; Deyanira Garcia-Navas Núñez; Tarja Linnankivi; Eija Gaily; Henriette JA van Ruiten; Ruth Richardson; Cornelia Betzler; Gabriella Horvath; Eva Brilstra; Niels Geerdink; Daniele Orsucci; Alessandra Tessa; Elena Gardella; Zofia Fleszar; Ludger Schöls; Holger Lerche; Rikke S Møller; Yuanyuan Liu
eBioMedicine
EBioMedicine 98, 104855 (2023). doi:10.1016/j.ebiom.2023.104855
EBioMedicine 98, 104855 (2023). doi:10.1016/j.ebiom.2023.104855
Academic Journal
Appenzeller, Silke; Balling, Rudi; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Dimova, Petia; Djémié, Tania; Gormley, Padhraig; Guerrini, Renzo; Helbig, Ingo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jähn, Johanna; Klein, Karl Martin; Koeleman, Bobby; Komarek, Vladimir; Krause, Roland; Kuhlenbäumer, Gregor; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Linnankivi, Tarja; Marini, Carla; May, Patrick; Møller, Rikke S.; Muhle, Hiltrud; Pal, Deb; Palotie, Aarno; Pendziwiat, Manuela; Robbiano, Angela; Roelens, Filip; Rosenow, Felix; Selmer, Kaja; Serratosa, Jose M.; Sisodiya, Sanjay; Stephani, Ulrich; Sterbova, Katalin; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weber, Yvonne; Weckhuysen, Sarah; Zara, Federico; Abou-Khalil, Bassel; Alldredge, Brian K.; Andermann, Eva; Andermann, Frederick; Amron, Dina; Bautista, Jocelyn F.; Berkovic, Samuel F.; Bluvstein, Judith; Boro, Alex; Cascino, Gregory; Consalvo, Damian; Crumrine, Patricia; Devinsky, Orrin; Dlugos, Dennis; Epstein, Michael P.; Fiol, Miguel; Fountain, Nathan B.; French, Jacqueline; Friedman, Daniel; Geller, Eric B.; Glauser, Tracy; Glynn, Simon; Haas, Kevin; Haut, Sheryl R.; Hayward, Jean; Helmers, Sandra L.; Joshi, Sucheta; Kanner, Andres; Kirsch, Heidi E.; Knowlton, Robert C.; Kossoff, Eric H.; Kuperman, Rachel; Kuzniecky, Ruben; Lowenstein, Daniel H.; McGuire, Shannon M.; Motika, Paul V.; Novotny, Edward J.; Ottman, Ruth; Paolicchi, Juliann M.; Parent, Jack; Park, Kristen; Poduri, Annapurna; Sadleir, Lynette; Scheffer, Ingrid E.; Shellhaas, Renée A.; Sherr, Elliott; Shih, Jerry J.; Singh, Rani; Sirven, Joseph; Smith, Michael C.; Sullivan, Joe; Thio, Liu Lin; Venkat, Anu; Vining, Eileen P.G.; Von Allmen, Gretchen K.; Weisenberg, Judith L.; Widdess-Walsh, Peter; Winawer, Melodie R.; Allen, Andrew S.; Cossette, Patrick; Delanty, Norman; Eichler, Evan E.; Goldstein, David B.; Han, Yujun; Heinzen, Erin L.; Johnson, Michael R.; Marson, Anthony G.; Mefford, Heather C.; Nieh, Sahar Esmaeeli; O’Brien, Terence J.; Petrou, Stephen; Petrovski, Slavé; Ruzzo, Elizabeth K.
In The American Journal of Human Genetics 2 October 2014 95(4):360-370
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