학술논문
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'학술논문'
에서 검색결과 119건 | 목록
1~20
Academic Journal
Martins, Helena; Mills, James D.; Pagni, Susanna; Gulcebi, Medine I.; Vakrinou, Angeliki; Moloney, Patrick B.; Clayton, Lisa M.; Bellampalli, Ravishankara; Stamberger, Hannah; Weckhuysen, Sarah; Striano, Pasquale; Zara, Federico; Bagnall, Richard D.; Harris, Rebekah V.; Lawrence, Kate M.; Sadleir, Lynette G.; Crompton, Douglas E.; Friedman, Daniel; Laze, Juliana; Li, Ling; Berkovic, Samuel F.; Semsarian, Christopher; Scheffer, Ingrid E.; Devinsky, Orrin; Kuchenbaecker, Karoline; Balestrini, Simona; Sisodiya, Sanjay M.
eBioMedicine. 118
Academic Journal
Jackson, Adam; Verloes, Alain; Corvo, Alberto; Ferlini, Alessandra; Costa, Alessia; Hoischen, Alexander; Durr, Alexandra; Krebsová, Alice; Metcalfe, Alison; Rath, Ana; Töpf, Ana; Papakonstantinou, Anastasios; Traschütz, Andreas; Bruel, Ange-Line; Codina, Anna Esteve; Heinzmann, Anna; Sommer, Anna Katharina; Sarkozy, Anna; Torella, Annalaura; Denommé-Pichon, Anne-Sophie; Brookes, Anthony J.; Atalaia, Antonio; Vitobello, Antonio; Resch, Baptist; van de Warrenburg, Bart; van der Sanden, Bart; Zurek, Birte; Keren, Boris; Eymard, Bruno; Yaldiz, Burcu; Oliveira, Carla; Hernández, Carles; Wilke, Carlo; Lucano, Caterina; José, Celina São; Millevert, Charissa; Bettolo, Chiara Marini; Thauvin, Christel; Boßelmann, Christian; Gilissen, Christian; Davoine, Claire-Sophie; Thomas, Coline; Metay, Corinne; Mignot, Cyril; Thomasová, Dana; Danis, Daniel; Picó, Daniel; Beijer, Danique; Lagorce, David; Ruvolo, David; Piscia, Davide; Sukumaran, Deepthi; Heron, Delphine; Roelofs-Prins, Dieuwke; Spalding, Dylan; Cali, Elisa; Alexander, Elizabeth; de Boer, Elke; Raineri, Emanuele; Lebreton, Emeline; Cohen, Enzo; Janssen, Erik; Kamsteeg, Erik-Jan; Zonneveld-Huijssoon, Eveline; Carneiro, Fátima; Gualandi, Francesca; Magrinelli, Francesca; Muntoni, Francesco; de Vries, Geert; Bullich, Gemma; van der Vries, Gerben; Demidov, German; Stevanin, Giovanni; Bonne, Gisèle; Coarelli, Giulia; Piluso, Giulio; Robert, Glenn; Warren, Greg; Gumus, Gulcin; Brunner, Han; Stamberger, Hannah; Scheffer, Hans; Morsy, Heba; Parkinson, Helen; Houlden, Henry; Hengel, Holger; Lerche, Holger; Graessner, Holm; Paramonov, Ida; Kolen, Ingrid; Gullo, Irene; Zaharieva, Irina; Paske, Iris te; Spier, Isabel; Nelson, Isabelle; Gut, Ivo Glynne; Vandrovcova, Jana; Agathe, Jean-Madeleine de Sainte; Clayton-Smith, Jill; Xu, Jishu; van der Velde, Joeri K.; Baets, Jonathan; De Winter, Jonathan; Rohrer, Jonathan; Park, Joohyun; Manera, Jordi Diaz; Garcia-Pelaez, Jose; Kegele, Josua; Schulze-Hentrich, Julia M.; Müller, Juliane; Engelhardt, Karin; Sablauskas, Karolis; Ellwanger, Kornelia; Neveling, Kornelia; Abbott, Kristin M.; Faivre, Laurence; Guillot-Noel, Léna; Johansson, Lennart; Schütz, Leon; Matalonga, Leslie; Van de Vondel, Liedewei; Vissers, Lisenka E.L.M.; Schöls, Ludger; Ryba, Lukáš; Perry, Luke; Garrido, Luzia; Sagath, Lydia; Freeberg, Mallory; Morleo, Manuela; Dabad, Marc; Hanauer, Marc; Sturm, Marc; Neri, Marcella; Fernandez-Callejo, Marcos; Turnovec, Marek; Zanobio, Mariateresa; van Gijn, Marielle; Havlovicová, Markéta; Steehouwer, Marloes; Chahdil, Maroua; Ferreira, Marta; Gut, Marta; Reilly, Mary; Synofzik, Matthis; Kellner, Melanie; Pinelli, Michele; Hanna, Mike; Macek, Milan, Jr.; Swertz, Morris A.; Hoogerbrugge, Nicoline; van Os, Nienke; Smal, Noor; Riess, Olaf; Hongnat, Oscar; Moloney, Patrick; Doležalová, Pavla; Ferreira, Pedro; ’t Hoen, Peter A.C.; de Jonghe, Peter; Heutink, Peter; Robinson, Peter; Lišková, Petra; Neerincx, Pieter B.; Ben Yaou, Rabah; Kremliková, Radka Pourová; Bellampalli, Ravishankara; Schüle, Rebecca; Moore, Richard; de Voer, Richarda M.; Barbosa-Matos, Rita; Selvatici, Rita; Lauerer-Braun, Robert; Zeuli, Roberta; Abadijou, Sadegh; Nalagandla, Sai Anuhya; Banfi, Sandro; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Köhler, Sebastian; Beltran, Sergi; Drunat, Séverine; Banka, Siddharth; Peters, Sophia; Hambleton, Sophie; Gibson, Spencer; Aretz, Stefan; Bigoni, Stefania; Lauxmann, Stephan; Ossowski, Stephan; Efthymiou, Stephanie; Laurie, Steven; Fernandes, Susana; Stojkovic, Tanya; Evangelista, Teresinha; Keane, Thomas; Kleefstra, Tjitske; Haack, Tobias B.; Riaz, Umar; Allamand, Valérie; Franková, Vera; Pini, Veronica; Couturier, Victor; Timmerman, Vincent; Nigro, Vincenzo; Bros-Facer, Virginie; Straub, Volker; Kerstjens Frederikse, Wilhemina S.; De Ridder, Willem; Steyaert, Wouter; Duffourd, Yannis; Wang, Yunze Patrick; Maver, Ales; Renieri, Alessandra; Münchau, Alexander; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Ciolfi, Andrea; Laner, Andreas; Roos, Andreas; Rump, Andreas; Garcia de Oteyza, Andrés Caballero; Osorio, Andrés Nascimento; Marcé-Grau, Anna; Destrée, Anne; Riva, Antonella; Evangeliou, Athanasios; Trimouille, Aurelien; Başak, Ayşe Nazlı; Dermaut, Bart; Delgado, Beatriz Martínez; Pérez-Dueñas, Belén; Estevez, Berta; Udd, Bjarne; Grimbacher, Bodo; Peterlin, Borut; Poppe, Bruce; Wirth, Brunhilde; Dallapiccola, Bruno; Rooryck, Caroline; Olimpio, Catarina; Depondt, Chantal; Fallerini, Chiara; Depienne, Christel; Korff, Christian; Mertes, Christian; Ruivenkamp, Claudia A.L.; Meunier, Colombine; Lederer, Damien; Natera de Benito, Daniel; Beeson, David; Webb, David; Mei, Davide; Karadurmus, Deniz; Lacombe, Didier; Hemelsoet, Dimitri; Parrini, Elena; Kapaki, Elisabeth; Bogaert, Elke; Holinski-Feder, Elke; Leitão, Elsa; Bijlsma, Emilia K.; Van Nieuwenhove, Erika; Martín, Estrella López; Sánchez, Eva Bermejo; Bouveret, Eva Hammar; Schröck, Evelin; Carpancea, Evelina; Kokosali, Evgenia; Zara, Federico; Privitera, Flavia; Radio, Francesca Clementina; Munell, Francina; Alonso García de la Rosa, Francisco Javier; Masclaux, Frédéric; Capella, Gabriel; Cavalleri, Gianpiero; Santen, Gijs W.E.; Ghani, Hamidah; Verdin, Hannah; Lochmüller, Hanns; Leavis, Helen; Zaganas, Ioannis; Cordts, Isabell; Maystadt, Isabelle; van Montfrans, Joris; Cossins, Judith; Desir, Julie; Gagneur, Julien; Boztug, Kaan; Dahan, Karin; Benson, Katherine; Schon, Katherine; Lohmann, Katja; Polavarapu, Kiran; Platzer, Konrad; Zguro, Kristina; Claeys, Kristl; Mathioudakis, Lambros; van der Veken, Lars; Masó, Laura Batlle; Valle, Laura; Krass, Leon; Huibers, Manon; De la Paz, Manuel Posada; Bourbouli, Mara; Abramowicz, Marc; Scala, Marcello; Ferilli, Marco; Savarese, Marco; Tartaglia, Marco; Deschauer, Marcus; Molnar, Maria Judit; Cilio, Maria-Roberta; Greally, Marie; Hoffer, Mariette J.V.; Spilioti, Martha; Pauly, Martje; O'Reghan, Mary; Haimel, Matthias; Karakaya, Mert; Iacomino, Michele; Drakos, Minas; Johari, Mridul; Allen, Nicholas; Schuermans, Nika; Delanty, Norman; Monestier, Olivier; Kiliçarslan, Özge Aksel; Scudieri, Paolo; Uva, Paolo; Striano, Pasquale; Chinnery, Patrick F.; May, Patrick; Balicza, Peter; Hackman, Peter; Thompson, Rachel; Jamra, Rami Abou; Herzog, Rebecca; Luknárová, Rebeka; Guerrini, Renzo; Horvath, Rita; Colobran, Roger; van Heurck, Roxane; Mary, Sandrine; Duerinckx, Sarah; Balestrini, Simona; Furini, Simone; Malaichamy, Sivasankar; Moortgat, Stéphanie; Byrne, Susan; Brohée, Sylvain; Ratnaike, Thiloka; Bartolomaeus, Tobias; Benoit, Valerie; Steinke-Lange, Verena; Yépez, Vicente A.; Sznajer, Yves; Di Feo, Maria Francesca ; Matalonga Borrel, Leslie ; Vissers, Lisenka ; de Voer, Richarda ; Lesca, Gaëtan ; Gayathri, Swethaa Natraj ; Cossee, Mireille ; Perrin, Aurelien ; Bonne, Gisele ; Verdonschot, Job A.J.
In Genetics in Medicine November 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
JCI Insight, Vol 10, Iss 7 (2025)
Academic Journal
Cordovado, Amélie; Hérenger, Yvan; Cormier, Coline; López-Martín, Estrella; Stamberger, Hannah; Faivre, Laurence; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Abdallah, Hamza; Barcia, Giulia; Courtin, Thomas; Martínez-Delgado, Beatriz; Bermejo-Sánchez, Eva; Barrero, María; Gasser, Brooklynn; Bezieau, Stéphane; Küry, Sébastien; Weckhuysen, Sarah; Laumonnier, Frédéric; Toutain, Annick; Vuillaume, Marie-Laure
Hum Mutat
Human mutation
Human mutation
Academic Journal
Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M.
Molecular Psychiatry. 28(2):668-697
Academic Journal
Stevelink, Remi; Luykx, Jurjen J.; Lin, Bochao D.; Leu, Costin; Lal, Dennis; Smith, Alexander W.; Schijven, Dick; Carpay, Johannes A.; Rademaker, Koen; Rodrigues Baldez, Roiza A.; Devinsky, Orrin; Braun, Kees P.J.; Jansen, Floor E.; Smit, Dirk J.A.; Koeleman, Bobby P.C.; Abou‐Khalil, Bassel; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Balding, David J.; Bast, Thomas; Baum, Larry; Becker, Albert J.; Becker, Felicitas; Berghuis, Bianca; Berkovic, Samuel F.; Boysen, Katja E.; Bradfield, Jonathan P.; Brody, Lawrence C.; Buono, Russell J.; Campbell, Ellen; Cascino, Gregory D.; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cherny, Stacey S.; Chinthapalli, Krishna; Coffey, Alison J.; Compston, Alastair; Coppola, Antonietta; Cossette, Patrick; Craig, John J.; Haan, Gerrit‐Jan; De Jonghe, Peter; Kovel, Carolien G.F.; Delanty, Norman; Depondt, Chantal; Dlugos, Dennis J.; Doherty, Colin P.; Elger, Christian E.; Eriksson, Johan G.; Ferraro, Thomas N.; Feucht, Martha; Francis, Ben; Franke, Andre; French, Jacqueline A.; Freytag, Saskia; Gaus, Verena; Geller, Eric B.; Gieger, Christian; Glauser, Tracy; Glynn, Simon; Goldstein, David B.; Gui, Hongsheng; Guo, Youling; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Haut, Sheryl; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Hjalgrim, Helle; Iacomino, Michele; Ingason, Andrés; Jamnadas‐Khoda, Jennifer; Johnson, Michael R.; Kälviäinen, Reetta; Kantanen, Anne‐Mari; Kasperavičiūte, Dalia; Kasteleijn‐Nolst Trenite, Dorothee; Kirsch, Heidi E.; Knowlton, Robert C.; Krause, Roland; Krenn, Martin; Kunz, Wolfram S.; Kuzniecky, Ruben; Kwan, Patrick; Lau, Yu‐Lung; Lehesjoki, Anna‐Elina; Lerche, Holger; Lieb, Wolfgang; Lindhout, Dick; Lo, Warren D.; Lopes‐Cendes, Iscia; Lowenstein, Daniel H.; Malovini, Alberto; Marson, Anthony G.; Mayer, Thomas; McCormack, Mark; Mills, James L.; Mirza, Nasir; Moerzinger, Martina; Møller, Rikke S.; Molloy, Anne M.; Muhle, Hiltrud; Newton, Mark; Ng, Ping‐Wing; Nöthen, Markus M.; Nürnberg, Peter; O’Brien, Terence J.; Oliver, Karen L.; Palotie, Aarno; Pangilinan, Faith; Peter, Sarah; Petrovski, Slavé; Poduri, Annapurna; Privitera, Michael; Radtke, Rodney; Rau, Sarah; Reif, Philipp S.; Reinthaler, Eva M.; Rosenow, Felix; Sander, Josemir W.; Sander, Thomas; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Sham, Pak C.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Slattery, Lisa; Smith, David F.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C.M.; Speed, Doug; Sperling, Michael R.; Steinhoff, Bernhard J.; Stephani, Ulrich; Strauch, Konstantin; Striano, Pasquale; Stroink, Hans; Surges, Rainer; Tan, K. Meng; Thio, Liu Lin; Thomas, G. Neil; Todaro, Marian; Tozzi, Rossana; Vari, Maria S.; Vining, Eileen P. G.; Visscher, Frank; Spiczak, Sarah; Walley, Nicole M.; Weber, Yvonne G.; Wei, Zhi; Mameniskiene, Ruta; Weisenberg, Judith; Whelan, Christopher D.; Widdess‐Walsh, Peter; Wolff, Markus; Wolking, Stefan; Yang, Wanling; Zara, Federico; Zimprich, Fritz; Feng, Yen‐Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Churchhouse, Claire; Gupta, Namrata; Gabriel, Stacey B.; Daly, Mark J.; Lander, Eric S.; Neale, Benjamin M.; Cotsapas, Chris; Dixon‐Salazar, Tracy; Guerrini, Renzo; Kamalakaran, Sitharthan; Stewart, Randy; Weckhuysen, Sarah; Freyer, Catharine; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bellows, Susannah T.; Bennett, Caitlin A.; Johns, Esther M.C.; Macdonald, Alexandra; Shilling, Hannah; Burgess, Rosemary; Weckhuysen, Dorien; O'Brien, Terence J.; 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; Knake, Susanne; Zsurka, Gábor; Bauer, Jürgen; Rademacher, Michael; Pendziwiat, Manuela; Rademacher, Annika; Baalen, Andreas; 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; Maisch, Ana F.; Schulze‐Bonhage, Andreas; Schubert‐Bast, Susanne; Schreiber, Herbert; Borggräfe, Ingo; Korinthenberg, Rudolf; Brockmann, Knut; Dennig, Dieter; Madeleyn, Rene; Auvinen, Pia; Saarela, Anni; Linnankivi, Tarja; Rees, Mark I.; Chung, Seo‐Kyung; Pickrell, William O.; Powell, Robert; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Baum, Larry W.; Lui, Colin H.T.; Barišić, Nina; Shukralla, Arif; El‐Naggar, Hany; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Madia, Francesca; Stella Vari, Maria; 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; Lo, Warren; Schachter, Steven; Kuzniecky, Ruben I.; Hegde, Manu; Khankhanian, Pouya; Helbig, Katherine L.; Ellis, Colin A.
Epilepsia
Epilepsia (Cph.) 62 (2021): 1518–1527. doi:10.1111/epi.16922
info:cnr-pdr/source/autori:Stevelink R; Luykx J. J.; Lin B. D; Leu C; Lal D; Smith A. W; Schijven D; Carpay J. A; Rademaker K; Baldez Roiza A. R.; Devinsky O; Braun Kees P. J.; Jansen Floor E.; Smit Dirk J. A; Koeleman B. P. C; Annesi G; EPY25./titolo:Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations/doi:10.1111%2Fepi.16922/rivista:Epilepsia (Cph.)/anno:2021/pagina_da:1518/pagina_a:1527/intervallo_pagine:1518–1527/volume:62
Epilepsia 62, 1518-1527 (2021)
Epilepsia, vol 62, iss 7
Epilepsia : the journal of the International League Against Epilepsy 62(7), 1518-1527 (2021). doi:10.1111/epi.16922
Epilepsia (Cph.) 62 (2021): 1518–1527. doi:10.1111/epi.16922
info:cnr-pdr/source/autori:Stevelink R; Luykx J. J.; Lin B. D; Leu C; Lal D; Smith A. W; Schijven D; Carpay J. A; Rademaker K; Baldez Roiza A. R.; Devinsky O; Braun Kees P. J.; Jansen Floor E.; Smit Dirk J. A; Koeleman B. P. C; Annesi G; EPY25./titolo:Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations/doi:10.1111%2Fepi.16922/rivista:Epilepsia (Cph.)/anno:2021/pagina_da:1518/pagina_a:1527/intervallo_pagine:1518–1527/volume:62
Epilepsia 62, 1518-1527 (2021)
Epilepsia, vol 62, iss 7
Epilepsia : the journal of the International League Against Epilepsy 62(7), 1518-1527 (2021). doi:10.1111/epi.16922
Academic Journal
Montanucci, Ludovica; Lewis-Smith, David; Collins, Ryan L.; Niestroj, Lisa-Marie; Parthasarathy, Shridhar; Xian, Julie; Ganesan, Shiva; Macnee, Marie; Brünger, Tobias; Thomas, Rhys H.; Talkowski, Michael; Motelow, Joshua E.; Povysil, Gundula; Dhindsa, Ryan S.; Stanley, Kate E.; Allen, Andrew S.; Goldstein, David B.; Feng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Cusick, Caroline; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea E.; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Gupta, Namrata; Neale, Benjamin M.; Berkovic, Samuel F.; Lerche, Holger; Lowenstein, Daniel H.; Cavalleri, Gianpiero L.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; Heinzen, Erin L.; Helbig, Ingo; Kwan, Patrick; Marson, Anthony G.; Petrovski, Slavé; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bennett, Caitlin A.; Leech, Stephanie L.; Leu, Costin; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Depondti, Chantal; Andrade, Danielle M.; Ali, Quratulain Zulfiqar; Sadoway, Tara R.; Krestel, Heinz; Schaller, André; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Yiolanda, Christou; Štěrbová, Katalin; Vlčková, Markéta; Sedláčková, Lucie; Laššuthová, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Neubauer, Bernd A.; Zimprich, Friedrich; Feucht, Martha; Reinthaler, Eva; Kunz, Wolfram S.; Zsurka, Gábor; Surges, Rainer; Baumgartner, Tobias H.; von Wrede, Randi; 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; Lauxmann, Stephan; Bosselmann, Christian; Kegele, Josua; Hengsbach, Christian; Rau, Sarah; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Borggräfe, Ingo; Schankin, Christoph J.; Schubert-Bast, Susanne; Schreiber, Herbert; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Wolff, Markus; Dennig, Dieter; Madeleyn, Rene; Kälviäinen, Reetta; Saarela, Anni; Timonen, Oskari; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rheims, Sylvain; Lesca, Gaetan; Ryvlin, Philippe; Maillard, Louis; Valton, Luc; Derambure, Philippe; Bartolomei, Fabrice; Hirsch, Edouard; Michel, Véronique; Chassoux, Francine; Rees, Mark I.; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert H. W.; Baker, Mark D.; Fonferko-Shadrach, Beata; Lawthom, Charlotte; Anderson, Joe; 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.; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; El-Naggar, Hany; Widdess-Walsh, Peter; Barišić, Nina; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Ragona, Francesca; Zara, Federico; Iacomino, Michele; Riva, Antonella; Madia, Francesca; Vari, Maria Stella; Salpietro, Vincenzo; Scala, Marcello; Mancardi, Maria Margherita; Lino, Nobili; Amadori, Elisa; Giacomini, Thea; Bisulli, Francesca; Pippucci, Tommaso; Licchetta, Laura; Minardi, Raffaella; Tinuper, Paolo; Muccioli, Lorenzo; Mostacci, Barbara; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Barba, Carmen; Hirose, Shinichi; Ishii, Atsushi; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Beydoun, Ahmad; Nasreddine, Wassim; Khoueiry-Zgheib, Nathalie; Tumiene, Birute; Utkus, Algirdas; Sadleir, Lynette G.; King, Chontelle; Caglayan, S. Hande; Arslan, Mutluay; Yapıcı, Zuhal; Topaloglu, Pınar; Kara, Bulent; Yis, Uluc; Turkdogan, Dilsad; Gundogdu-Eken, Aslı; Bebek, Nerses; Uğur-İşeri, Sibel; Baykan, Betül; Salman, Barış; Haryanyan, Garen; Yücesan, Emrah; Kesim, Yeşim; Özkara, Çiğdem; Tsai, Meng-Han; Ho, Chen-Jui; Lin, Chih-Hsiang; Lin, Kuang-Lin; Chou, I-Jun; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Noebels, Jeffrey L.; Goldman, Alicia; Busch, Robyn M.; Jehi, Lara; Najm, Imad M.; Ferguson, Lisa; Khoury, Jean; Glauser, Tracy A.; Clark, Peggy O.; 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; Greenberg, David A.; Ellis, Colin A.; Goldberg, Ethan; Helbig, Katherine L.; Cosico, Mahgenn; Vaidiswaran, Priya; Fitch, Eryn; Newton, Charles R. J. C.; Kariuki, Symon M.; Wagner, Ryan G.; Owusu-Agyei, Seth; Cole, Andrew J.; McGraw, Christopher M.; Siena, S. Anthony; Davis, Lea; Hucks, Donald; Faucon, Annika; Wu, David; Abou-Khalil, Bassel W.; Haas, Kevin; Taneja, Randip S.; null, null
Nat Commun
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Nature communications
Montanucci, Ludovica; Lewis-Smith, David; Collins, Ryan L; Niestroj, Lisa-Marie; Parthasarathy, Shridhar; Xian, Julie; Ganesan, Shiva; Macnee, Marie; Brünger, Tobias; Thomas, Rhys H; Talkowski, Michael; Helbig, Ingo; Leu, Costin; Lal, Dennis (2023). Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nature Communications, 14(1), p. 4392. Springer Nature 10.1038/s41467-023-39539-6
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Nature Communications 14, 4392 (2023). doi:10.1038/s41467-023-39539-6
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Nature communications
Montanucci, Ludovica; Lewis-Smith, David; Collins, Ryan L; Niestroj, Lisa-Marie; Parthasarathy, Shridhar; Xian, Julie; Ganesan, Shiva; Macnee, Marie; Brünger, Tobias; Thomas, Rhys H; Talkowski, Michael; Helbig, Ingo; Leu, Costin; Lal, Dennis (2023). Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nature Communications, 14(1), p. 4392. Springer Nature 10.1038/s41467-023-39539-6
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Academic Journal
Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; de Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E. L. M.; null, null; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Marc; Park, Joohyun; Schütz, Leon; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kellner, Melanie; Resch, Baptist; Kolen, Ingrid; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Beijer, Danique; Heutink, Peter; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Boßelmann, Christian; Kegele, Josua; Lauerer-Braun, Robert; Lauxmann, Stephan; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; 't Hoen, Peter A. C.; Steyaert, Wouter; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Neveling, Kornelia; van der Sanden, Bart; Sagath, Lydia; Kleefstra, Tjitske; Brookes, Anthony J.; Gibson, Spencer; Riaz, Umar; Warren, Greg; Nalagandla, Sai Anuhya; Wang, Yunze Patrick; Sukumaran, Deepthi; Abadijou, Sadegh; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Couturier, Victor; Gut, Ivo Glynne; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Codina, Anna Esteve; Dabad, Marc; Gut, Marta; Raineri, Emanuele; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lucano, Caterina; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Ryba, Lukáš; Lišková, Petra; Doležalová, Pavla; Krebsová, Alice; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Bellampalli, Ravishankara; Moloney, Patrick; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Perry, Luke; Pini, Veronica; Müller, Juliane; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; de Jonghe, Peter; De Ridder, Willem; Weckhuysen, Sarah; Stamberger, Hannah; Millevert, Charissa; Smal, Noor; Nigro, Vincenzo; Morleo, Manuela; Pinelli, Michele; Banfi, Sandro; Torella, Annalaura; Zeuli, Roberta; Zanobio, Mariateresa; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Barbosa-Matos, Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Ruvolo, David; van Gijn, Marielle; Abbott, Kristin M.; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Köhler, Sebastian; Metcalfe, Alison; Moore, Richard; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Jamra, Rami Abou; Abramowicz, Marc; Kiliçarslan, Özge Aksel; Allen, Nicholas; Javier Alonso García de la Rosa, Francisco; Balestrini, Simona; Balicza, Peter; Bartolomaeus, Tobias; Başak, Ayşe Nazl; Masó, Laura Batlle; Beeson, David; Benoit, Valerie; Benson, Katherine; Sánchez, Eva Bermejo; Bijlsma, Emilia K.; Bogaert, Elke; Bourbouli, Mara; Boztug, Kaan; Brohée, Sylvain; Byrne, Susan; Garcia de Oteyza, Andrés Caballero; Capella, Gabriel; Carpancea, Evelina; Cavalleri, Gianpiero; Cazurro-Gutiérrez, Ana; Chinnery, Patrick F.; Cilio, Maria-Roberta; Ciolfi, Andrea; Claeys, Kristl; Colobran, Roger; Cordts, Isabell; Cossins, Judith; Dahan, Karin; Dallapiccola, Bruno; Delanty, Norman; Depienne, Christel; Depondt, Chantal; Dermaut, Bart; Deschauer, Marcus; Desir, Julie; Destrée, Anne; Drakos, Minas; Duerinckx, Sarah; Estevez, Berta; Evangeliou, Athanasios; Fallerini, Chiara; Ferilli, Marco; Furini, Simone; Gagneur, Julien; Ghani, Hamidah; Greally, Marie; Grimbacher, Bodo; Guerrini, Renzo; Hackman, Peter; Haimel, Matthias; Bouveret, Eva Hammar; Hemelsoet, Dimitri; Herzog, Rebecca; Hoffer, Mariette J. V.; Holinski-Feder, Elke; Horvath, Rita; Huibers, Manon; Iacomino, Michele; Johari, Mridul; Kapaki, Elisabeth; Karadurmus, Deniz; Karakaya, Mert; Kokosali, Evgenia; Korff, Christian; Krass, Leon; Lacombe, Didier; Laner, Andreas; Leavis, Helen; Lederer, Damien; Leitão, Elsa; Lochmüller, Hanns; Martín, Estrella López; Luknárová, Rebeka; Macaya, Alfons; Malaichamy, Sivasankar; Marcé-Grau, Anna; Delgado, Beatriz Martínez; Mary, Sandrine; Masclaux, Frédéric; Mathioudakis, Lambros; Maver, Ales; May, Patrick; Maystadt, Isabelle; Mei, Davide; Mertes, Christian; Meunier, Colombine; Molnar, Maria Judit; Monestier, Olivier; Moortgat, Stéphanie; Münchau, Alexander; Munell, Francina; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Reghan, Mary O.; Olimpio, Catarina; Parrini, Elena; Pauly, Martje; Pérez-Dueñas, Belén; Peterlin, Borut; Platzer, Konrad; Polavarapu, Kiran; Poppe, Bruce; De la Paz, Manuel Posada; Privitera, Flavia; Radio, Francesca Clementina; Ratnaike, Thiloka; Renieri, Alessandra; Riva, Antonella; Rooryck, Caroline; Roos, Andreas; Ruivenkamp, Claudia A. L.; Rump, Andreas; Santen, Gijs W. E.; Savarese, Marco; Scala, Marcello; Schon, Katherine; Schröck, Evelin; Scudieri, Paolo; Spilioti, Martha; Steinke-Lange, Verena; Striano, Pasquale; Sznajer, Yves; Tartaglia, Marco; Thompson, Rachel; Trimouille, Aurelien; Udd, Bjarne; Uva, Paolo; Valle, Laura; van der Veken, Lars; van Heurck, Roxane; van Montfrans, Joris; Van Nieuwenhove, Erika; Verdin, Hannah; Webb, David; Wirth, Brunhilde; Yépez, Vicente A.; Zaganas, Ioannis; Zara, Federico; Zguro, Kristina; Laurie, Steven
NPJ Genom Med
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6
Academic Journal
Xian, Julie; Parthasarathy, Shridhar; Ruggiero, Sarah M; Balagura, Ganna; Fitch, Eryn; Helbig, Katherine; Gan, Jing; Ganesan, Shiva; Kaufman, Michael C; Ellis, Colin A; Lewis-Smith, David; Galer, Peter; Cunningham, Kristin; O'Brien, Margaret; Cosico, Mahgenn; Baker, Kate; Darling, Alejandra; Veiga De Goes, Fernanda; El Achkar, Christelle M; Doering, Jan Henje; Furia, Francesca; García-Cazorla, Ángeles; Gardella, Elena; Geertjens, Lisa; Klein, Courtney; Kolesnik-Taylor, Anna; Lammertse, Hanna; Lee, Jeehun; Mackie, Alexandra; Misra-Isrie, Mala; Olson, Heather; Sexton, Emma; Sheidley, Beth; Smith, Lacey; Sotero, Luiza; Stamberger, Hannah; Syrbe, Steffen; Thalwitzer, Kim Marie; Van Berkel, Annemiek; Van Haelst, Mieke; Yuskaitis, Christopher; Weckhuysen, Sarah; Prosser, Ben; Son Rigby, Charlene; Demarest, Scott; Pierce, Samuel; Zhang, Yuehua; Møller, Rikke S; Bruining, Hilgo; Poduri, Annapurna; Zara, Federico; Verhage, Matthijs; Striano, Pasquale; Helbig, Ingo
Brain
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
instname
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, el Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L,Stamberger , H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, 'Assessing the landscape of STXBP1-related disorders in 534 individuals', Brain, vol. 145, no. 5, pp. 1668-1683. https://doi.org/10.1093/brain/awab327
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
instname
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, el Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L,
Academic Journal
Bonardi, Claudia; Heyne, Henrike; Fiannacca, Martina; Fitzgerald, Mark; Gardella, Elena; Gunning, Boudewijn; Olofsson, Kern; Lesca, Gaétan; Verbeek, Nienke; Stamberger, Hannah; Striano, Pasquale; Zara, Federico; Mancardi, Maria; Nava, Caroline; Syrbe, Steffen; Buono, Salvatore; Baulac, Stephanie; Coppola, Antonietta; Weckhuysen, Sarah; Schoonjans, An-Sofie; Ceulemans, Berten; Sarret, Catherine; Baumgartner, Tobias; Muhle, Hiltrud; Portes, Vincent Des; Toulouse, Joseph; Nougues, Marie-Christine; Rossi, Massimiliano; Demarquay, Geneviève; Ville, Dorothée; Hirsch, Edouard; Maurey, Hélène; Willems, Marjolaine; de Bellescize, Julitta; Altuzarra, Cecilia Desmettre; Villeneuve, Nathalie; Bartolomei, Fabrice; Picard, Fabienne; Hornemann, Frauke; Koolen, David; Kroes, Hester; Reale, Chiara; Fenger, Christina; Tan, Wen-Hann; Dibbens, Leanne; Bearden, David; Møller, Rikke; Rubboli, Guido
Brain, 144, pp. 3635-3650
Brain, Vol. 144, No 12 (2021) pp. 3635-3650
Brain
Bonardi, C M, Heyne, H O, Fiannacca, M, Fitzgerald, M P, Gardella, E, Gunning, B, Olofsson, K, Lesca, G, Verbeek, N,Stamberger , H, Striano, P, Zara, F, Mancardi, M M, Nava, C, Syrbe, S, Buono, S, Baulac, S, Coppola, A, Weckhuysen, S, Schoonjans, A-S, Ceulemans, B, Sarret, C, Baumgartner, T, Muhle, H, des Portes, V, Toulouse, J, Nougues, M-C, Rossi, M, Demarquay, G, Ville, D, Hirsch, E, Maurey, H, Willems, M, de Bellescize, J, Altuzarra, C D, Villeneuve, N, Bartolomei, F, Picard, F, Hornemann, F, Koolen, D A, Kroes, H Y, Reale, C, Fenger, C D, Tan, W-H, Dibbens, L, Bearden, D R, Møller, R S & Rubboli, G 2021, ' KCNT1-related epilepsies and epileptic encephalopathies : phenotypic and mutational spectrum ', Brain : a journal of neurology, vol. 144, no. 12, pp. 3635-3650 . https://doi.org/10.1093/brain/awab219
Brain, Vol. 144, No 12 (2021) pp. 3635-3650
Brain
Bonardi, C M, Heyne, H O, Fiannacca, M, Fitzgerald, M P, Gardella, E, Gunning, B, Olofsson, K, Lesca, G, Verbeek, N,
Academic Journal
Motelow, Joshua E.; Povysil, Gundula; Dhindsa, Ryan S.; Stanley, Kate E.; Allen, Andrew S.; Feng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Cusick, Caroline; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea E.; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Gupta, Namrata; Neale, Benjamin M.; Cavalleri, Gianpiero L.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; Heinzen, Erin L.; Helbig, Ingo; Kwan, Patrick; Marson, Anthony G.; Petrovski, Slavé; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bennett, Caitlin A.; Leu, Costin; Leech, Stephanie L.; O’Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Ali, Quratulain Zulfiqar; Sadoway, Tara R.; Krestel, Heinz; Schaller, André; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Christou, Yiolanda; Štěrbová, Katalin; Vlčková, Markéta; Sedláčková, Lucie; Laššuthová, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Neubauer, Bernd A.; Zimprich, Friedrich; Feucht, Martha; Reinthaler, Eva M.; Kunz, Wolfram S.; Zsurka, Gábor; Surges, Rainer; Baumgartner, Tobias; von Wrede, Randi; 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; Lauxmann, Stephan; Boßelmann, Christian; Kegele, Josua; Hengsbach, Christian; Rau, Sarah; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Borggräfe, Ingo; Schankin, Christoph J.; Schubert-Bast, Susanne; Schreiber, Herbert; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Wolff, Markus; Dennig, Dieter; Madeleyn, Rene; Kälviäinen, Reetta; Saarela, Anni; Timonen, Oskari; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rheims, Sylvain; Lesca, Gaetan; Ryvlin, Philippe; Maillard, Louis; Valton, Luc; Derambure, Philippe; Bartolomei, Fabrice; Hirsch, Edouard; Michel, Véronique; Chassoux, Francine; Rees, Mark I.; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert; Baker, Mark D.; Fonferko-Shadrach, Beata; Lawthom, Charlotte; Anderson, Joseph; 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.; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; El-Naggar, Hany; Widdess-Walsh, Peter; Barišić, Nina; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Ragona, Francesca; Zara, Federico; Iacomino, Michele; Riva, Antonella; Madia, Francesca; Vari, Maria Stella; Salpietro, Vincenzo; Scala, Marcello; Mancardi, Maria Margherita; Nobili, Lino; Amadori, Elisabetta; Giacomini, Thea; Bisulli, Francesca; Pippucci, Tommaso; Licchetta, Laura; Minardi, Raffaella; Tinuper, Paolo; Muccioli, Lorenzo; Mostacci, Barbara; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Barba, Carmen; Hirose, Shinichi; Ishii, Atsushi; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Beydoun, Ahmad; Nasreddine, Wassim; Khoueiry Zgheib, Nathalie; Tumiene, Birute; Utkus, Algirdas; Sadleir, Lynette G.; King, Chontelle; Caglayan, S. Hande; Arslan, Mutluay; Yapıcı, Zuhal; Topaloglu, Pınar; Kara, Bulent; Yis, Uluc; Turkdogan, Dilsad; Gundogdu-Eken, Aslı; Bebek, Nerses; Uğur-İşeri, Sibel; Baykan, Betül; Salman, Barış; Haryanyan, Garen; Yücesan, Emrah; Kesim, Yeşim; Özkara, YeşÇiğdem; Tsai, Meng-Han; Ho, Chen-Jui; Lin, Chih-Hsiang; Lin, Kuang-Lin; Chou, I-Jun; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Noebels, Jeffrey L.; Goldman, Alicia; Busch, Robyn M.; Jehi, Lara; Najm, Imad M.; Ferguson, Lisa; Khoury, Jean; Glauser, Tracy A.; Clark, Peggy O.; 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; Greenberg, David A.; Ellis, Colin A.; Goldberg, Ethan; Helbig, Katherine L.; Cosico, Mahgenn; Vaidiswaran, Priya; Fitch, Eryn; Berkovic, Samuel F.; Lerche, Holger; Lowenstein, Daniel H.; Goldstein, David B.
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Academic Journal
Stamberger, Hannah; Hammer, Trine B; Gardella, Elena; Vlaskamp, Danique R M; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T; Fenger, Christina; Afawi, Zaid; Almanza Fuerte, Edith P; Andrade, Danielle M; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F; Berkovic, Samuel F; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Øyvind L; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R; Hildebrand, Michael S; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W; Koeleman, Bobby P C; Koolen, David A; Korff, Christian; Küry, Sébastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J; Mackay, Mark T; Macke, Erica L; McEntagart, Meriel; Mohammad, Shekeeb S; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle Nathalie; Reed, Laura; Reif, Philipp S; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G; Sadoway, Tara; Schelhaas, Helenius J; Schneider, Amy L; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M; Smol, Thomas; Stumpel, Connie T R M; Stuurman, Kyra; Symonds, Joseph D; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A; Zerem, Ayelet; Zuberi, Sameer M; Guerrini, Renzo; Mefford, Heather C; Patel, Chirag; Zhang, Yue-Hua; Møller, Rikke S; Scheffer, Ingrid E
Genetics in Medicine, 23, 2, pp. 363-373
Genetics in Medicine, Vol. 23, No 2 (2021) pp. 363-373
Genetics in medicine
Stamberger , H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in Medicine, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Stamberger , H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y-H, Møller, R S & Scheffer, I E 2021, 'NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 2, pp. 363-373. https://doi.org/10.1038/s41436-020-00988-9
Genetics in Medicine, Vol. 23, No 2 (2021) pp. 363-373
Genetics in medicine
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
Fitzgerald, Mark; Fiannacca, Martina; Smith, Douglas; Gertler, Tracy; Gunning, Boudewijn; Syrbe, Steffen; Verbeek, Nienke; Stamberger, Hannah; Weckhuysen, Sarah; Ceulemans, Berten; Schoonjans, An-Sofie; Rossi, Massimiliano; Demarquay, Geneviève; Lesca, Gaetan; Olofsson, Kern; Koolen, D.A.; Hornemann, Frauke; Baulac, Stephanie; Rubboli, Guido; Minks, Kelly; Lee, Bohoon; Helbig, Ingo; Dlugos, Dennis; Møller, Rikke; Bearden, David
Neurotherapeutics, 16, 3, pp. 848-857
Neurotherapeutics
Fitzgerald, M P, Fiannacca, M, Smith, D M, Gertler, T S, Gunning, B, Syrbe, S, Verbeek, N,Stamberger , H, Weckhuysen, S, Ceulemans, B, Schoonjans, A S, Rossi, M, Demarquay, G, Lesca, G, Olofsson, K, Koolen, D A, Hornemann, F, Baulac, S, Rubboli, G, Minks, K Q, Lee, B, Helbig, I, Dlugos, D, Møller, R S & Bearden, D 2019, ' Treatment Responsiveness in KCNT1-Related Epilepsy ', Neurotherapeutics, vol. 16, no. 3, pp. 848-857 . https://doi.org/10.1007/s13311-019-00739-y
Neurotherapeutics
Fitzgerald, M P, Fiannacca, M, Smith, D M, Gertler, T S, Gunning, B, Syrbe, S, Verbeek, N,
Academic Journal
Stamberger, Hannah; Crosiers, David; Balagura, Ganna; Bonardi, Claudia M; Basu, Anna; Cantalupo, Gaetano; Chiesa, Valentina; Christensen, Jakob; Dalla Bernardina, Bernardo; Ellis, Colin A; Furia, Francesca; Gardiner, Fiona; Giron, Camille; Guerrini, Renzo; Klein, Karl Martin; Korff, Christian; Krijtova, Hana; Leffler, Melanie; Lerche, Holger; Lesca, Gaetan; Lewis-Smith, David; Marini, Carla; Marjanovic, Dragan; Mazzola, Laure; McKeown Ruggiero, Sarah; Mochel, Fanny; Ramond, Francis; Reif, Philipp S; Richard-Mornas, Aurélie; Rosenow, Felix; Schropp, Christian; Thomas, Rhys H; Vignoli, Aglaia; Weber, Yvonne; Palmer, Elizabeth; Helbig, Ingo; Scheffer, Ingrid E; Striano, Pasquale; Møller, Rikke S; Gardella, Elena; Weckhuysen, Sarah
Neurology
Stamberger , H, Crosiers, D, Balagura, G, Bonardi, C M, Basu, A, Cantalupo, G, Chiesa, V, Christensen, J, Dalla Bernardina, B, Ellis, C A, Furia, F, Gardiner, F, Giron, C, Guerrini, R, Klein, K M, Korff, C, Krijtova, H, Leffner, M, Lerche, H, Lesca, G, Lewis-Smith, D, Marini, C, Marjanovic, D, Mazzola, L, McKeown Ruggiero, S, Mochel, F, Ramond, F, Reif, P S, Richard-Mornas, A, Rosenow, F, Schropp, C, Thomas, R H, Vignoli, A, Weber, Y, Palmer, E, Helbig, I, Scheffer, I E, Striano, P, Møller, R S, Gardella, E & Weckhuysen, S 2022, 'Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy into Adulthood', Neurology, vol. 99, no. 3, pp. E221-E233. https://doi.org/10.1212/WNL.0000000000200715
Neurology 99(3), e221-e233 (2022). doi:10.1212/WNL.0000000000200715
Neurology 99(3), e221-e233 (2022). doi:10.1212/WNL.0000000000200715
Academic Journal
Guissart, Claire; Latypova, Xenia; Rollier, Paul; Khan, Tahir; Stamberger, Hannah; Mcwalter, Kirsty; Cho, Megan; Kjaergaard, Susanne; Weckhuysen, Sarah; Lesca, Gaetan; Besnard, Thomas; Ounap, Katrin; Schema, Lynn; Chiocchetti, Andreas; Mcdonald, Marie; de Bellescize, Julitta; Vincent, Marie; van Esch, Hilde; Sattler, Shannon; Forghani, Irman; Thiffault, Isabelle; Freitag, Christine; Barbouth, Deborah Sara; Cadieux-Dion, Maxime; Willaert, Rebecca; Guillen Sacoto, Maria; Safina, Nicole; Dubourg, Christèle; Grote, Lauren; Carré, Wilfrid; Saunders, Carol; Pajusalu, Sander; Farrow, Emily; Boland, Anne; Karlowicz, Danielle Hays; Deleuze, Jean-François; Wojcik, Monica; Pressman, Rena; Isidor, Bertrand; Vogels, Annick; van Paesschen, Wim; Al-Gazali, Lihadh; Al Shamsi, Aisha Mohamed; Claustres, Mireille; Pujol, Aurora; Sanders, Stephan; Rivier, Francois; Leboucq, Nicolas; Cogné, Benjamin; Sasorith, Souphatta; Sanlaville, Damien; Retterer, Kyle; Odent, Sylvie; Katsanis, Nicholas; Bézieau, Stéphane; Koenig, Michel; Davis, Erica; Pasquier, Laurent; Küry, Sébastien
Dipòsit Digital de la UB
Universidad de Barcelona
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
The American journal of human genetics
American Journal of Human Genetics, vol 102, iss 5
Universidad de Barcelona
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
The American journal of human genetics
American Journal of Human Genetics, vol 102, iss 5
Academic Journal
Holger Hengel; Célia Bosso-Lefèvre; George Grady; Emmanuelle Szenker-Ravi; Hankun Li; Sarah Pierce; Élise Lebigot; Thong-Teck Tan; Michelle Y. Eio; Gunaseelan Narayanan; Kagistia Hana Utami; Monica Yau; Nader Handal; Werner Deigendesch; Reinhard Keimer; Hiyam M. Marzouqa; Meral Gunay-Aygun; Michael J. Muriello; Helene Verhelst; Sarah Weckhuysen; Sonal Mahida; Sakkubai Naidu; Terrence G. Thomas; Jiin Ying Lim; Ee Shien Tan; Damien Haye; Michèl A. A. P. Willemsen; Renske Oegema; Wendy G. Mitchell; Tyler Mark Pierson; Marisa V. Andrews; Marcia C. Willing; Lance H. Rodan; Tahsin Stefan Barakat; Marjon van Slegtenhorst; Ralitza H. Gavrilova; Diego Martinelli; Tal Gilboa; Abdullah M. Tamim; Mais O. Hashem; Moeenaldeen D. AlSayed; Maha M. Abdulrahim; Mohammed Al-Owain; Ali Awaji; Adel A. H. Mahmoud; Eissa A. Faqeih; Ali Al Asmari; Sulwan M. Algain; Lamyaa A. Jad; Hesham M. Aldhalaan; Ingo Helbig; David A. Koolen; Angelika Riess; Ingeborg Kraegeloh-Mann; Peter Bauer; Suleyman Gulsuner; Hannah Stamberger; Alvin Yu Jin Ng; Sha Tang; Sumanty Tohari; Boris Keren; Laura E. Schultz-Rogers; Eric W. Klee; Sabina Barresi; Marco Tartaglia; Hagar Mor-Shaked; Sateesh Maddirevula; Amber Begtrup; Aida Telegrafi; Rolph Pfundt; Rebecca Schüle; Brian Ciruna; Carine Bonnard; Mahmoud A. Pouladi; James C. Stewart; Adam Claridge-Chang; Dirk J. Lefeber; Fowzan S. Alkuraya; Ajay S. Mathuru; Byrappa Venkatesh; Joseph J. Barycki; Melanie A. Simpson; Saumya S. Jamuar; Ludger Schöls; Bruno Reversade
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Academic Journal
Aleksandra Siekierska; Hannah Stamberger; Tine Deconinck; Stephanie N. Oprescu; Michèle Partoens; Yifan Zhang; Jo Sourbron; Elias Adriaenssens; Patrick Mullen; Patrick Wiencek; Katia Hardies; Jeong-Soo Lee; Hoi-Khoanh Giong; Felix Distelmaier; Orly Elpeleg; Katherine L. Helbig; Joseph Hersh; Sedat Isikay; Elizabeth Jordan; Ender Karaca; Angela Kecskes; James R. Lupski; Reka Kovacs-Nagy; Patrick May; Vinodh Narayanan; Manuela Pendziwiat; Keri Ramsey; Sampathkumar Rangasamy; Deepali N. Shinde; Ronen Spiegel; Vincent Timmerman; Sarah von Spiczak; Ingo Helbig; C4RCD Research Group; AR working group of the EuroEPINOMICS RES Consortium; Sarah Weckhuysen; Christopher Francklyn; Anthony Antonellis; Peter de Witte; Peter De Jonghe
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
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