부산대학교 도서관

OpenAI; Hurst, Aaron; Lerer, Adam; Goucher, Adam P.; Perelman, Adam; Ramesh, Aditya; Clark, Aidan; Ostrow, AJ; Welihinda, Akila; Hayes, Alan; Radford, Alec; Mądry, Aleksander; Baker-Whitcomb, Alex; Beutel, Alex; Borzunov, Alex; Carney, Alex; Chow, Alex; Kirillov, Alex; Nichol, Alex; Paino, Alex; Renzin, Alex; Passos, Alex Tachard; Kirillov, Alexander; Christakis, Alexi; Conneau, Alexis; Kamali, Ali; Jabri, Allan; Moyer, Allison; Tam, Allison; Crookes, Amadou; Tootoochian, Amin; Tootoonchian, Amin; Kumar, Ananya; Vallone, Andrea; Karpathy, Andrej; Braunstein, Andrew; Cann, Andrew; Codispoti, Andrew; Galu, Andrew; Kondrich, Andrew; Tulloch, Andrew; Mishchenko, Andrey; Baek, Angela; Jiang, Angela; Pelisse, Antoine; Woodford, Antonia; Gosalia, Anuj; Dhar, Arka; Pantuliano, Ashley; Nayak, Avi; Oliver, Avital; Zoph, Barret; Ghorbani, Behrooz; Leimberger, Ben; Rossen, Ben; Sokolowsky, Ben; Wang, Ben; Zweig, Benjamin; Hoover, Beth; Samic, Blake; McGrew, Bob; Spero, Bobby; Giertler, Bogo; Cheng, Bowen; Lightcap, Brad; Walkin, Brandon; Quinn, Brendan; Guarraci, Brian; Hsu, Brian; Kellogg, Bright; Eastman, Brydon; Lugaresi, Camillo; Wainwright, Carroll; Bassin, Cary; Hudson, Cary; Chu, Casey; Nelson, Chad; Li, Chak; Shern, Chan Jun; Conger, Channing; Barette, Charlotte; Voss, Chelsea; Ding, Chen; Lu, Cheng; Zhang, Chong; Beaumont, Chris; Hallacy, Chris; Koch, Chris; Gibson, Christian; Kim, Christina; Choi, Christine; McLeavey, Christine; Hesse, Christopher; Fischer, Claudia; Winter, Clemens; Czarnecki, Coley; Jarvis, Colin; Wei, Colin; Koumouzelis, Constantin; Sherburn, Dane; Kappler, Daniel; Levin, Daniel; Levy, Daniel; Carr, David; Farhi, David; Mely, David; Robinson, David; Sasaki, David; Jin, Denny; Valladares, Dev; Tsipras, Dimitris; Li, Doug; Nguyen, Duc Phong; Findlay, Duncan; Oiwoh, Edede; Wong, Edmund; Asdar, Ehsan; Proehl, Elizabeth; Yang, Elizabeth; Antonow, Eric; Kramer, Eric; Peterson, Eric; Sigler, Eric; Wallace, Eric; Brevdo, Eugene; Mays, Evan; Khorasani, Farzad; Such, Felipe Petroski; Raso, Filippo; Zhang, Francis; von Lohmann, Fred; Sulit, Freddie; Goh, Gabriel; Oden, Gene; Salmon, Geoff; Starace, Giulio; Brockman, Greg; Salman, Hadi; Bao, Haiming; Hu, Haitang; Wong, Hannah; Wang, Haoyu; Schmidt, Heather; Whitney, Heather; Jun, Heewoo; Kirchner, Hendrik; Pinto, Henrique Ponde de Oliveira; Ren, Hongyu; Chang, Huiwen; Chung, Hyung Won; Kivlichan, Ian; O'Connell, Ian; Osband, Ian; Silber, Ian; Sohl, Ian; Okuyucu, Ibrahim; Lan, Ikai; Kostrikov, Ilya; Sutskever, Ilya; Kanitscheider, Ingmar; Gulrajani, Ishaan; Coxon, Jacob; Menick, Jacob; Pachocki, Jakub; Aung, James; Betker, James; Crooks, James; Lennon, James; Kiros, Jamie; Leike, Jan; Park, Jane; Kwon, Jason; Phang, Jason; Teplitz, Jason; Wei, Jason; Wolfe, Jason; Chen, Jay; Harris, Jeff; Varavva, Jenia; Lee, Jessica Gan; Shieh, Jessica; Lin, Ji; Yu, Jiahui; Weng, Jiayi; Tang, Jie; Yu, Jieqi; Jang, Joanne; Candela, Joaquin Quinonero; Beutler, Joe; Landers, Joe; Parish, Joel; Heidecke, Johannes; Schulman, John; Lachman, Jonathan; McKay, Jonathan; Uesato, Jonathan; Ward, Jonathan; Kim, Jong Wook; Huizinga, Joost; Sitkin, Jordan; Kraaijeveld, Jos; Gross, Josh; Kaplan, Josh; Snyder, Josh; Achiam, Joshua; Jiao, Joy; Lee, Joyce; Zhuang, Juntang; Harriman, Justyn; Fricke, Kai; Hayashi, Kai; Singhal, Karan; Shi, Katy; Karthik, Kavin; Wood, Kayla; Rimbach, Kendra; Hsu, Kenny; Nguyen, Kenny; Gu-Lemberg, Keren; Button, Kevin; Liu, Kevin; Howe, Kiel; Muthukumar, Krithika; Luther, Kyle; Ahmad, Lama; Kai, Larry; Itow, Lauren; Workman, Lauren; Pathak, Leher; Chen, Leo; Jing, Li; Guy, Lia; Fedus, Liam; Zhou, Liang; Mamitsuka, Lien; Weng, Lilian; McCallum, Lindsay; Held, Lindsey; Ouyang, Long; Feuvrier, Louis; Zhang, Lu; Kondraciuk, Lukas; Kaiser, Lukasz; Hewitt, Luke; Metz, Luke; Doshi, Lyric; Aflak, Mada; Simens, Maddie; Boyd, Madelaine; Thompson, Madeleine; Dukhan, Marat; Chen, Mark; Gray, Mark; Hudnall, Mark; Zhang, Marvin; Aljubeh, Marwan; Litwin, Mateusz; Zeng, Matthew; Johnson, Max; Shetty, Maya; Gupta, Mayank; Shah, Meghan; Yatbaz, Mehmet; Yang, Meng Jia; Zhong, Mengchao; Glaese, Mia; Chen, Mianna; Janner, Michael; Lampe, Michael; Petrov, Michael; Wu, Michael; Wang, Michele; Fradin, Michelle; Pokrass, Michelle; Castro, Miguel; de Castro, Miguel Oom Temudo; Pavlov, Mikhail; Brundage, Miles; Wang, Miles; Khan, Minal; Murati, Mira; Bavarian, Mo; Lin, Molly; Yesildal, Murat; Soto, Nacho; Gimelshein, Natalia; Cone, Natalie; Staudacher, Natalie; Summers, Natalie; LaFontaine, Natan; Chowdhury, Neil; Ryder, Nick; Stathas, Nick; Turley, Nick; Tezak, Nik; Felix, Niko; Kudige, Nithanth; Keskar, Nitish; Deutsch, Noah; Bundick, Noel; Puckett, Nora; Nachum, Ofir; Okelola, Ola; Boiko, Oleg; Murk, Oleg; Jaffe, Oliver; Watkins, Olivia; Godement, Olivier; Campbell-Moore, Owen; Chao, Patrick; McMillan, Paul; Belov, Pavel; Su, Peng; Bak, Peter; Bakkum, Peter; Deng, Peter; Dolan, Peter; Hoeschele, Peter; Welinder, Peter; Tillet, Phil; Pronin, Philip; Tillet, Philippe; Dhariwal, Prafulla; Yuan, Qiming; Dias, Rachel; Lim, Rachel; Arora, Rahul; Troll, Rajan; Lin, Randall; Lopes, Rapha Gontijo; Puri, Raul; Miyara, Reah; Leike, Reimar; Gaubert, Renaud; Zamani, Reza; Wang, Ricky; Donnelly, Rob; Honsby, Rob; Smith, Rocky; Sahai, Rohan; Ramchandani, Rohit; Huet, Romain; Carmichael, Rory; Zellers, Rowan; Chen, Roy; Chen, Ruby; Nigmatullin, Ruslan; Cheu, Ryan; Jain, Saachi; Altman, Sam; Schoenholz, Sam; Toizer, Sam; Miserendino, Samuel; Agarwal, Sandhini; Culver, Sara; Ethersmith, Scott; Gray, Scott; Grove, Sean; Metzger, Sean; Hermani, Shamez; Jain, Shantanu; Zhao, Shengjia; Wu, Sherwin; Jomoto, Shino; Wu, Shirong; Shuaiqi; Xia; Phene, Sonia; Papay, Spencer; Narayanan, Srinivas; Coffey, Steve; Lee, Steve; Hall, Stewart; Balaji, Suchir; Broda, Tal; Stramer, Tal; Xu, Tao; Gogineni, Tarun; Christianson, Taya; Sanders, Ted; Patwardhan, Tejal; Cunninghman, Thomas; Degry, Thomas; Dimson, Thomas; Raoux, Thomas; Shadwell, Thomas; Zheng, Tianhao; Underwood, Todd; Markov, Todor; Sherbakov, Toki; Rubin, Tom; Stasi, Tom; Kaftan, Tomer; Heywood, Tristan; Peterson, Troy; Walters, Tyce; Eloundou, Tyna; Qi, Valerie; Moeller, Veit; Monaco, Vinnie; Kuo, Vishal; Fomenko, Vlad; Chang, Wayne; Zheng, Weiyi; Zhou, Wenda; Manassra, Wesam; Sheu, Will; Zaremba, Wojciech; Patil, Yash; Qian, Yilei; Kim, Yongjik; Cheng, Youlong; Zhang, Yu; He, Yuchen; Zhang, Yuchen; Jin, Yujia; Dai, Yunxing; Malkov, Yury

Eva M. Reinthaler; Dennis Lal; Sebastien Lebon; Michael S. Hildebrand; Hans-Henrik M. Dahl; Brigid M. Regan; Martha Feucht; Hannelore Steinböck; Birgit Neophytou; Gabriel M. Ronen; Laurian Roche; Ursula Gruber-Sedlmayr; Julia Geldner; Edda Haberlandt; Per Hoffmann; Stefan Herms; Christian Gieger; Melanie Waldenberger; Andre Franke; Michael Wittig; Susanne Schoch; Albert J. Becker; Andreas Hahn; Katrin Männik; Mohammad R. Toliat; Georg Winterer; Holger Lerche; Peter Nürnberg; Heather Mefford; Ingrid E. Scheffer; Samuel F. Berkovic; Jacques S. Beckmann; Thomas Sander; Sebastien Jacquemont; Alexandre Reymond; Fritz Zimprich; Bernd A. Neubauer; Bernd Neubauer; Martina Mörzinger; Arvid Suls; Sarah Weckhuysen; Lieve Claes; Liesbet Deprez; Katrien Smets; Tine Van Dyck; Tine Deconinck; Peter De Jonghe; Rikke S Møller; Laura L. Klitten; Helle Hjalgrim; Kiel Campus; Ingo Helbig; Hiltrud Muhle; Philipp Ostertag; Sarah von Spiczak; Ulrich Stephani; Holger Trucks; Christian E. Elger; Ailing A. Kleefuß-Lie; Wolfram S. Kunz; Rainer Surges; Verena Gaus; Dieter Janz; Bettina Schmitz; Felix Rosenow; Karl Martin Klein; Philipp S. Reif; Wolfgang H. Oertel; Hajo M. Hamer; Felicitas Becker; Yvonne Weber; Bobby P.C. Koeleman; Carolien de Kovel; Dick Lindhout; Agnès Ameil; Joris Andrieux; Sonia Bouquillon; Odile Boute; Jeanne de Flandre; Jean Marie Cuisset; Jean-Christophe Cuvellier; Roger Salengro; Albert David; Bert de Vries; Marie-Ange Delrue; Martine Doco-Fenzy; Bridget A. Fernandez; Delphine Heron; Boris Keren; Robert Lebel; Bruno Leheup; Suzanne Lewis; Maria Antonietta Mencarelli; Cyril Mignot; Jean-Claude Minet; Alexandre Moerman; Fanny Morice-Picard; Mafalda Mucciolo; Katrin Ounap; Laurent Pasquier; Florence Petit; Francesca Ragona; Evica Rajcan-Separovic; Alessandra Renieri; Claudine Rieubland; Damien Sanlaville; Elisabeth Sarrazin; Yiping Shen; Mieke van Haelst; Anneke Vulto-van Silfhout

16p11.2 European Consortium, EPICURE Consortium, The EuroEPINOMICS Consortium & Møller, R S 2014, ' 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy ', Human Molecular Genetics, vol. 23, no. 22, pp. 6069-6080 . https://doi.org/10.1093/hmg/ddu306
Reinthaler, Eva M; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S; Dahl, Hans-Henrik M; Regan, Brigid M; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M; Roche, Laurian; Gruber-Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; ... (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human molecular genetics, 23(22), pp. 6069-6080. Oxford University Press 10.1093/hmg/ddu306
HUMAN MOLECULAR GENETICS
Human molecular genetics

Katherine, Conigrave; Brian, Freeman; Therese, Caroll; Lynette, Simpson; Kylie, Lee; Vicki, Wade; Keren, Kiel; Steve, Ella; Karen, Becker; Brad, Freeburn

Health Promotion Journal of Australia. 23:219-225

Katharine E, Teasdale; Katherine M, Conigrave; Keren A, Kiel; Bradley, Freeburn; George, Long; Karen, Becker

Drug and Alcohol Review. 27:152-159

Reinthaler, Eva M.; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S.; Dahl, Hans-Henrik M.; Regan, Brigid M.; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M.; Roche, Laurian; Gruber-Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; Schoch, Susanne; Becker, Albert J.; Hahn, Andreas; Männik, Katrin; Toliat, Mohammad R.; Winterer, Georg; Lerche, Holger; Nürnberg, Peter; Mefford, Heather; Scheffer, Ingrid E.; Berkovic, Samuel F.; Beckmann, Jacques S.; Sander, Thomas; Jacquemont, Sebastien; Reymond, Alexandre; Zimprich, Fritz; Neubauer, Bernd A.; Neubauer, Bernd; Mörzinger, Martina; Suls, Arvid; Weckhuysen, Sarah; Claes, Lieve; Deprez, Liesbet; Smets, Katrien; Van Dyck, Tine; Deconinck, Tine; De Jonghe, Peter; Møller, Rikke S.; Klitten, Laura L.; Hjalgrim, Helle; Campus, Kiel; Helbig, Ingo; Muhle, Hiltrud; Ostertag, Philipp; von Spiczak, Sarah; Stephani, Ulrich; Trucks, Holger; Elger, Christian E.; Kleefuß-Lie, Ailing A.; Kunz, Wolfram S.; Surges, Rainer; Gaus, Verena; Janz, Dieter; Schmitz, Bettina; Rosenow, Felix; Klein, Karl Martin; Reif, Philipp S.; Oertel, Wolfgang H.; Hamer, Hajo M.; Becker, Felicitas; Weber, Yvonne; Koeleman, Bobby P.C.; de Kovel, Carolien; Lindhout, Dick; Ameil, Agnès; Andrieux, Joris; Bouquillon, Sonia; Boute, Odile; de Flandre, Jeanne; Cuisset, Jean Marie; Cuvellier, Jean-Christophe; Salengro, Roger; David, Albert; de Vries, Bert; Delrue, Marie-Ange; Doco-Fenzy, Martine; Fernandez, Bridget A.; Heron, Delphine; Keren, Boris; Lebel, Robert; Leheup, Bruno; Lewis, Suzanne; Mencarelli, Maria Antonietta; Mignot, Cyril; Minet, Jean-Claude; Moerman, Alexandre; Morice-Picard, Fanny; Mucciolo, Mafalda; Ounap, Katrin; Pasquier, Laurent; Petit, Florence; Ragona, Francesca; Rajcan-Separovic, Evica; Renieri, Alessandra; Rieubland, Claudine; Sanlaville, Damien; Sarrazin, Elisabeth; Shen, Yiping; van Haelst, Mieke; Silfhout, Anneke Vulto-van

CARROLL, THERESE; SIMPSON, LYNETTE; FREEMAN, BRIAN; WADE, VICKI; KIEL, KEREN; FREEBURN, BRAD; ELLA, STEVE; BECKER, KAREN; CONIGRAVE, KATHERINE

Drug and Alcohol Review. Nov 01, 2009 28 Sup 1:A69-A70

Reinthaler, Eva M.; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S.; Dahl, Hans-Henrik M.; Regan, Brigid M.; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M.; Roche, Laurian; Gruber-Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; Schoch, Susanne; Becker, Albert J.; Hahn, Andreas; Männik, Katrin; Toliat, Mohammad R.; Winterer, Georg; Lerche, Holger; Nürnberg, Peter; Mefford, Heather; Scheffer, Ingrid E.; Berkovic, Samuel F.; Beckmann, Jacques S.; Sander, Thomas; Jacquemont, Sebastien; Reymond, Alexandre; Zimprich, Fritz; Neubauer, Bernd A.; Reinthaler, Eva M.; Zimprich, Fritz; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Geldner, Julia; Gruber-Sedlmayr, Ursula; Haberlandt, Edda; Ronen, Gabriel M.; Roche, Laurian; Lal, Dennis; Nürnberg, Peter; Sander, Thomas; Lerche, Holger; Neubauer, Bernd; Zimprich, Fritz; Mörzinger, Martina; Feucht, Martha; Suls, Arvid; Weckhuysen, Sarah; Claes, Lieve; Deprez, Liesbet; Smets, Katrien; Van Dyck, Tine; Deconinck, Tine; De Jonghe, Peter; Møller, Rikke S; Klitten, Laura L.; Hjalgrim, Helle; Møller, Rikke S; Campus, Kiel; Helbig, Ingo; Muhle, Hiltrud; Ostertag, Philipp; von Spiczak, Sarah; Stephani, Ulrich; Nürnberg, Peter; Sander, Thomas; Trucks, Holger; Elger, Christian E.; Kleefu-Lie, Ailing A.; Kunz, Wolfram S.; Surges, Rainer; Gaus, Verena; Janz, Dieter; Sander, Thomas; Schmitz, Bettina; Rosenow, Felix; Klein, Karl Martin; Reif, Philipp S.; Oertel, Wolfgang H.; Hamer, Hajo M.; Becker, Felicitas; Weber, Yvonne; Lerche, Holger; Koeleman, Bobby P.C.; de Kovel, Carolien; Lindhout, Dick; Lindhout, Dick; Ameil, Agnès; Andrieux, Joris; Bouquillon, Sonia; Boute, Odile; de Flandre, Jeanne; Cuisset, Jean Marie; Cuvellier, Jean-Christophe; Salengro, Roger; David, Albert; de Vries, Bert; Delrue, Marie-Ange; Doco-Fenzy, Martine; Fernandez, Bridget A.; Heron, Delphine; Keren, Boris; Lebel, Robert; Leheup, Bruno; Lewis, Suzanne; Mencarelli, Maria Antonietta; Mignot, Cyril; Minet, Jean-Claude; Moerman, Alexandre; Morice-Picard, Fanny; Mucciolo, Mafalda; Ounap, Katrin; Pasquier, Laurent; Petit, Florence; Ragona, Francesca; Rajcan-Separovic, Evica; Renieri, Alessandra; Rieubland, Claudine; Sanlaville, Damien; Sarrazin, Elisabeth; Shen, Yiping; van Haelst, Mieke; Silfhout, Anneke Vulto-van

Human Molecular Genetics. Nov 15, 2014 23(22):6069-6080

Allan Bayat; Guillem de Valles‐Ibáñez; Manuela Pendziwiat; Alexej Knaus; Kerstin Alt; Elisa Biamino; Annette Bley; Sophie Calvert; Patrick Carney; Alfonso Caro‐Llopis; Berten Ceulemans; Janice Cousin; Suzanne Davis; Vincent des Portes; Patrick Edery; Eleina England; Carlos Ferreira; Jeremy Freeman; Blanca Gener; Magali Gorce; Delphine Heron; Michael S. Hildebrand; Aleksandra Jezela‐Stanek; Pierre‐Simon Jouk; Boris Keren; Katja Kloth; Gerhard Kluger; Marius Kuhn; Johannes R. Lemke; Hong Li; Francisco Martinez; Caroline Maxton; Heather C. Mefford; Giuseppe Merla; Hanna Mierzewska; Alison Muir; Sandra Monfort; Joost Nicolai; Jennifer Norman; Gina O'Grady; Barbara Oleksy; Carmen Orellana; Laura Elena Orec; Charlotte Peinhardt; Ewa Pronicka; Monica Rosello; Fernando Santos‐Simarro; Eva Maria Christina Schwaibold; Alexander P. A. Stegmann; Constance T. Stumpel; Elzbieta Szczepanik; Iwona Terczyńska; Julien Thevenon; Andreas Tzschach; Patrick Van Bogaert; Roberta Vittorini; Sonja Walsh; Sarah Weckhuysen; Barbara Weissman; Lynne Wolfe; Alexandre Reymond; Pasquelena De Nittis; Annapurna Poduri; Heather Olson; Pasquale Striano; Gaetan Lesca; Ingrid E. Scheffer; Rikke S. Møller; Lynette G. Sadleir

Epilepsia
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Bayat, A, de Valles-Ibáñez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, des Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, M S, Jezela-Stanek, A, Jouk, P S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, J R, Li, H, Martinez, F, Maxton, C, Mefford, H C, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, L E, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, E M C, Stegmann, A P A, Stumpel, CT, Szczepanik, E, Terczyńska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, I E, Møller, R S & Sadleir, L G 2022, ' PIGN encephalopathy : Characterizing the epileptology ', Epilepsia, vol. 63, no. 4, pp. 974-991 . https://doi.org/10.1111/epi.17173

Ilaria Parenti; Elsa Leitão; Alma Kuechler; Laurent Villard; Cyril Goizet; Cécile Courdier; Allan Bayat; Alessandra Rossi; Sophie Julia; Ange-Line Bruel; Frédéric Tran Mau-Them; Sophie Nambot; Daphné Lehalle; Marjolaine Willems; James Lespinasse; Jamal Ghoumid; Roseline Caumes; Thomas Smol; Salima El Chehadeh; Elise Schaefer; Marie-Thérèse Abi-Warde; Boris Keren; Alexandra Afenjar; Anne-Claude Tabet; Jonathan Levy; Anna Maruani; Ángel Aledo-Serrano; Waltraud Garming; Clara Milleret-Pignot; Anna Chassevent; Marije Koopmans; Nienke E. Verbeek; Richard Person; Rebecca Belles; Gary Bellus; Bonnie A. Salbert; Frank J. Kaiser; Laure Mazzola; Philippe Convers; Laurine Perrin; Amélie Piton; Gert Wiegand; Andrea Accogli; Francesco Brancati; Fabio Benfenati; Nicolas Chatron; David Lewis-Smith; Rhys H. Thomas; Federico Zara; Pasquale Striano; Gaetan Lesca; Christel Depienne

Front Cell Dev Biol
Frontiers in Cell and Developmental Biology, Vol 10 (2022)

Conigrave, Katherine; Freeman, Brian; Caroll, Therese; Simpson, Lynette; Lee, K. S. Kylie; Wade, Vicki; Kiel, Keren; Ella, Steve; Becker, Karen; Freeburn, Bradley

HEALTH PROMOTION JOURNAL OF AUSTRALIA; DEC 2012, 23 3, p219-p225, 7p.

Engel C; Université de Franche-Comté, Centre de Génétique Humaine, CHU Besançon, Besançon, France. cengel@chu-besancon.fr.; Université de Bourgogne, INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, France. cengel@chu-besancon.fr.; Rendek M; Université de Franche-Comté, Centre de Génétique Humaine, CHU Besançon, Besançon, France.; Assoumani J; Université de Franche-Comté, Centre de Génétique Humaine, CHU Besançon, Besançon, France.; Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Ariani F; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Avice-Denizet AL; Université de Franche-Comté, Centre de Génétique Humaine, CHU Besançon, Besançon, France.; Bijlsmaa EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Blanc P; Laboratoire Seqoia, Paris, France.; Bruno LP; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Department of Medicine and Surgery, University of Milan-Bicocca, Monza, Italy.; Callewaert B; Reference centre for Mendelian connective tissue disorders - UZ Gent, Ghent University Hospital-UZ Gent, Gent, Belgium.; Capra V; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Carullo M; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.; Chesneau B; Service de Génétique Médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France.; Coppens S; Center for Medical Genetics, Hôpital Erasme, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium.; Curry C; Genetic Medicine, University of California, San Francisco/Fresno, Fresno, CA, USA.; Dale B; Genetics and Metabolics Clinic, McMaster Children's Hospital, Hamilton, ON, Canada.; Dahlen E; Université de Franche-Comté, CHU Besançon, Oncobiologie Génétique Bioinformatique, FHU-TRANSLAD et Institut GIMI, Besançon, France.; Delahaye-Duriez A; UF médecine génomique et génétique clinique, Hôpital Jean Verdier, Hôpitaux Universitaires de Paris Seine Saint Denis, AP-HP, Bondy, France.; UFR de Santé Médecine et Biologie humaine, Université Sorbonne Paris Nord, Bobigny, France.; NeuroDiderot UMR 1141, Inserm, FHU I2-D2, Université de Paris, Paris, France.; Denommé-Pichon AS; Université de Bourgogne, INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Demeer B; Service de Génétique Clinique et Oncogénétique, CHU Amiens-Picardie, Amiens, France.; Dvořáková L; Department of Biology and Medical Genetics, Charles University-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Fischer J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.; Geneviève D; Université Montpellier, Centre de référence anomalies du développement et syndromes malformatifs, Génétique Clinique, CHU Montpellier, Montpellier, France.; Giacomini T; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Child Neuropsychiatry Unit, IRCCS G. Gaslini Institute, Genoa, Italy.; Handrup MM; Center for Rare Diseases, Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.; Heron D; Département de génétique médicale, Hôpital Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France.; Hüning I; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Isidor B; Service de génétique médicale, Unité de génétique clinique, CHU Hôtel Dieu, 1, place Alexis Ricordeau, Nantes, France.; Keren B; Département de génétique médicale, Hôpital Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France.; Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.; Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Kübler A; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.; Laštůvková J; Department of Medical Genetics, Masaryk Hospital in Ústí nad Labem, Regional Health Corporation, Ústí nad Labem, Czech Republic.; Le C; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Levy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Rizzo CL; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Maitz S; Service of Medical Genetics, Oncologic Institute of Southern Switzerland, EOC, Switzerland, Switzerland.; Marlin S; Centre de référence « Surdités Génétiques », Service de Médecine génomique des Maladies rares, Hôpital Necker, Assistance Publique - Hôpitaux de Paris, Paris, France.; Institut Imagine, Paris, France.; Mignot C; Département de génétique médicale, Hôpital Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France.; Mirzaa G; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Nagel I; Institute of Human Genetics, University Hospital Schleswig-Holstein, Kiel, Germany.; Neuens S; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium.; Nosková L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.; Pao E; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Pecková A; Department of Medical Genetics, Masaryk Hospital in Ústí nad Labem, Regional Health Corporation, Ústí nad Labem, Czech Republic.; Plaisancie J; Service de Génétique Médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France.; Porrmann J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.; Privitera F; Department of Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Rio M; Necker Hospital, APHP, Reference Center for Intellectual Disability, Genetics Department, Institut Imagine, University of Paris, Paris, France.; Rippert A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Ryba L; Department of Biology and Medical Genetics, Charles University-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Schieving JH; Radboud University Medical Center, Department of Neurology, Nijmegen, The Netherlands.; Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Shuen A; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.; Smol T; Institut de Génétique Médicale, CHU Lille, Avenue Oscar Lambret, Lille, France.; Soblet J; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium.; Interuniversitary Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, UK.; Syryn H; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of biomolecular medicine, Ghent university, Ghent, Belgium.; Tran Mau-Them F; Université de Bourgogne, INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Travessa AM; Department of Medical Genetics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.; Institute of Histology and Developmental Biology, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.; Van Gils J; Department of Medical Genetics, University Hospital of Bordeaux and INSERM U1211, University of Bordeaux, Bordeaux, France.; Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Verseput JJA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium.; Vincent-Delorme C; CHU Lille, Clinique de Génétique, Lille, France.; Vyhnálková E; Department of Biology and Medical Genetics, Charles University-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Wakeling EL; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany.; Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Kuentz P; Université de Bourgogne, INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, France.; Université de Franche-Comté, CHU Besançon, Oncobiologie Génétique Bioinformatique, FHU-TRANSLAD et Institut GIMI, Besançon, France.; Piard J; Université de Franche-Comté, Centre de Génétique Humaine, CHU Besançon, Besançon, France. jpiard@chu-besancon.fr.; Université de Bourgogne, INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, France. jpiard@chu-besancon.fr.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Nava C; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France. caroline.nava@aphp.fr.; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France. caroline.nava@aphp.fr.; Laboratoire SeqOIA, Paris, France. caroline.nava@aphp.fr.; Cogne B; Laboratoire SeqOIA, Paris, France.; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Santini A; Univ. Rouen Normandie, Normandie Univ., Inserm U1245, Rouen, France.; Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Lecoquierre F; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Chen Y; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Stenton SL; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Besnard T; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Heide S; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Baer S; Service de Neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institute of Genetics and Cellular and Molecular Biology (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch, France.; Jakhar A; CNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104-UMR-S 1258, Illkirch, France.; Department of Integrated Structural Biology, IGBMC, Illkirch, France.; Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Keren B; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Laboratoire SeqOIA, Paris, France.; Faudet A; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Forlani S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; Faoucher M; Laboratoire SeqOIA, Paris, France.; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; University of Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; GCS AURAGEN, Lyon, France.; Uguen K; Laboratoire SeqOIA, Paris, France.; Univ. Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Afenjar A; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Centre de Référence Malformations et Maladies Congénitales du Cervelet et Déficiences Intellectuelles de Causes Rares, UF de Génétique Clinique, Hôpital Trousseau, Paris, France.; Alessandri JL; Service de Génétique, CHU de La Réunion, Saint-Pierre, France.; Andres S; Medicover München Ost MVZ Humangenetik, Munich, Germany.; Angelini C; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Aral B; GCS AURAGEN, Lyon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle Biologie, CHU de Dijon, Dijon, France.; Arveiler B; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France.; Attie-Bitach T; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Aubert Mucca M; Service de Génétique Médicale, CHU Purpan, Toulouse, France.; Banneau G; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, CHU Purpan, Toulouse, France.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Barcia G; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Baulac S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; Beneteau C; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Benkerdou F; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Bernard V; GCS AURAGEN, Lyon, France.; Bézieau S; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Bonneau D; Department of Genetics, Angers University Hospital, Angers, France.; UMR CNRS 6214-INSERM 1083, Angers, France.; Bonnet-Dupeyron MN; Consultations de Génétique, Centre Hospitalier de Valence, Valence, France.; Boussion S; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Boute O; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Brischoux-Boucher E; Centre de Génétique Humaine-CHU Besançon, Université de Bourgogne-Franche-Comté, Besançon, France.; Bryen SJ; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Buratti J; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Busa T; Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France.; Caliebe A; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Capri Y; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Cassinari K; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Caumes R; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Cenni C; Service de Génétique Moléculaire, Chromosomique et Clinique, CHU de Nîmes, Nîmes, France.; Chambon P; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Charles P; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Christodoulou J; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Colson C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Conrad S; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Cospain A; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; Coursimault J; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Courtin T; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Couse M; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Coutton C; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; Creveaux I; GCS AURAGEN, Lyon, France.; CHU Clermont-Ferrand Department of Medical Biochemistry and Molecular Biology, Clermont-Ferrand, France.; D'Gama AM; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Dauriat B; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Cytogénétique et Biologie de la Reproduction, CHU de Limoges, Limoges, France.; de Sainte Agathe JM; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Laboratoire SeqOIA, Paris, France.; Del Gobbo G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Delahaye-Duriez A; Laboratoire SeqOIA, Paris, France.; Hôpitaux Universitaires de Paris Seine-Saint-Denis-APHP, UF de médecine génomique et génétique Clinique, Hôpital Jean Verdier, Bondy, France.; UFR Santé Médecine et Biologie Humaine, Université Sorbonne Paris Nord, Bobigny, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Delanne J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Denommé-Pichon AS; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Dieux-Coeslier A; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Do Souto Ferreira L; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Doco-Fenzy M; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; GCS AURAGEN, Lyon, France.; Service de Génétique, CHU de Reims, Reims, France.; Drukewitz S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Duboc V; Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France.; Dubourg C; Laboratoire SeqOIA, Paris, France.; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; University of Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; Duffourd Y; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.; Elmaleh M; Assistance Publique-Hôpitaux de Paris (AP-HP), DMU DREAM, Hôpital Robert Debré, Service de Radiologie Pédiatrique, Paris, France.; Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Fennelly S; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Fischer H; Sozialpädiatrisches Zentrum Konstanz, Konstanz, Germany.; Fradin M; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Galludec Vaillant C; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Ganne B; GCS AURAGEN, Lyon, France.; Laboratoire de Génétique Chromosomique, CHU de Montpellier, Montpellier, France.; Ghoumid J; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Goel H; General Genetics Service, Hunter Genetics, Waratah, New South Wales, Australia.; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia.; Gokce-Samar Z; Department of Epilepsy, Sleep and Pediatric Neurophysiology, Hospices Civils de Lyon, Lyon, France.; University of Lyon, Lyon, France.; Goldenberg A; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Gonfreville Robert R; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Gorokhova S; GCS AURAGEN, Lyon, France.; Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France.; Aix Marseille University, INSERM, Marseille Medical Genetics, U1251, Marseille, France.; Goujon L; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Granier V; Service de Génétique Médicale, CHU Purpan, Toulouse, France.; Gras M; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Greally JM; Department of Pediatrics, Division of Pediatric Genetic, Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.; Greiten B; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Gueguen P; Laboratoire SeqOIA, Paris, France.; Service de Génétique, CHU de Tours, Tours, France.; Université de Tours, INSERM, Imaging Brain and Neuropsychiatry iBraiN U1253, Tours, France.; Guerrot AM; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Guha S; Molecular Diagnostics, New York Genome Center, New York City, NY, USA.; Guimier A; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Hadj Abdallah H; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Halleb Y; Service de Génétique Médicale, Centre Hospitalier du Mans, Le Mans, France.; Harbuz R; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; Harris M; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Héron B; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France.; Hitz MP; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Department of Medical Genetics, Carl von Ossietzky University, Oldenburg, Germany.; Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Jadas V; Service de Pédiatrie, CHMS Chambéry, CAMSP Chambéry, Chambéry, France.; Januel L; GCS AURAGEN, Lyon, France.; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Jean-Marçais N; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Jobanputra V; Molecular Diagnostics, New York Genome Center, New York City, NY, USA.; Department of Pathology, Columbia University Irving Medical Center, New York City, NY, USA.; Jobic F; Clinical Genetics Unit, University Hospital of Amiens, Amiens, France.; Jornea L; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; Jost C; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Julia S; Service de Génétique Médicale, CHU Purpan, Toulouse, France.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Essen Center for Rare Diseases (EZSE), Essen, Germany.; Kaschta D; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Kaya S; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Ketteler P; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Department of Pediatrics III, University Hospital Essen, Essen, Germany.; Khadija B; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia.; Cytogenetics, Molecular Genetics and Human Reproductive Biology Laboratory, Service of Genetics CHU Farhat Hached Sousse, Sousse, Tunisia.; Kilpert F; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.; Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Lackmy M; Unité de Génétique Clinique, Centre de Compétences Maladies Rares Anomalies du Développement, CHRU de Pointe à Pitre, Guadeloupe, France.; Laffargue F; Service de Génétique Médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France.; Lambert L; Service de Génétique Clinique, CHRU Nancy, Vandoeuvre les Nancy, France.; INSERM U1256-NGERE, Faculté de Médecine, Université de Lorraine, Vandoeuvre les Nancy, France.; Lamont R; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Laugel V; Service de Neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Laurie S; Centro Nacional de Análisis Genómico (CNAG), Universitat de Barcelona (UB), Barcelona, Spain.; Lauzon JL; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Lebreton L; GCS AURAGEN, Lyon, France.; Service de Biochimie, Hôpital Pellegrin, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Lebrun M; GCS AURAGEN, Lyon, France.; Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France.; Legendre M; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Leguern E; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Lehalle D; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Lejeune E; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Lesca G; GCS AURAGEN, Lyon, France.; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PGNM), UCBL, CNRS UMR5261-INSERM, U1315, Lyon, France.; Lesieur-Sebellin M; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Levy J; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Linglart A; Department of Endocrinology and Diabetology for Children, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.; Department of Adolescent Medicine, Bicetre Paris-Saclay University Hospital, Le Kremlin Bicetre, France.; Paris Saclay University, Paris, France.; Lyonnet S; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Lüthy K; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Ma AS; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, New South Wales, Australia.; Specialty of Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia.; Mach C; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Mandel JL; Institute of Genetics and Cellular and Molecular Biology (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch, France.; Mansour-Hendili L; Laboratoire SeqOIA, Paris, France.; Marcadier J; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Marin V; GCS AURAGEN, Lyon, France.; Service de Biochimie, Hôpital Pellegrin, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Margot H; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France.; Marquet V; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Cytogénétique et Biologie de la Reproduction, CHU de Limoges, Limoges, France.; May A; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Mayr JA; University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria.; Meridda C; Service de Génétique, CHU Caen, Caen, France.; Michaud V; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France.; Michot C; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Nadeau G; Laboratoire de Cytogénétique, CH de Chambéry, Chambéry, France.; Naudion S; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Nguyen L; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Nizon M; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nowak F; Health Technologies Institute, Inserm, Paris, France.; Odent S; University of Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Olin V; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Osei-Owusu IA; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Õunap K; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Pasquier L; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Passemard S; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), DMU INOV-RDB, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris, France.; Pauly M; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Patat O; Service de Génétique Médicale, CHU Purpan, Toulouse, France.; Pensec M; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.; Perrin-Sabourin L; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Petit F; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Philippe C; GCS AURAGEN, Lyon, France.; Laboratoire de Génétique Médicale, CHR Metz-Thionville, Hôpital Mercy, Metz, France.; Planes M; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.; Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Poirsier C; UF de Génétique clinique, CHU de Reims, Reims, France.; Pouzet A; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Prince B; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Prouteau C; Department of Genetics, Angers University Hospital, Angers, France.; Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.; Racine C; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Rama M; GCS AURAGEN, Lyon, France.; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Ramond F; GCS AURAGEN, Lyon, France.; Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France.; Ranguin K; Unité de Génétique-Centre Hospitalier Universitaire de Guadeloupe, Guadeloupe, France.; Raway M; Centre de Génétique Humaine-CHU Besançon, Université de Bourgogne-Franche-Comté, Besançon, France.; Reis A; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen, University Hospital Erlangen, Erlangen, Germany.; Renaud M; Service de Génétique Clinique, CHRU Nancy, Vandoeuvre les Nancy, France.; INSERM U1256-NGERE, Faculté de Médecine, Université de Lorraine, Vandoeuvre les Nancy, France.; Revencu N; Center for Human Genetics, Cliniques universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.; Richard AC; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Riera-Navarro L; Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France.; Rius R; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Rodriguez D; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France.; Reference Center for Rare Diseases and Intellectual Deficiencies of Rare Causes, Paris, France.; Rodriguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.; Rondeau S; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Roser-Unruh A; LMU Klinikum-München, Munich, Germany.; Rougeot Jung C; Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service de Neuropédiatrie, Lyon, France.; Safraou H; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Satre V; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; Saugier-Veber P; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Sauvestre C; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Schaefer E; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.; Shao W; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Schanze I; Institute of Human Genetics, Magdeburg, Germany.; Schlump JU; Department of Pediatrics, Centre for Neuromedicine, Gemeinschaftskrankenhaus Herdecke Gerhard-Kienle-Weg, Herdecke, Germany.; Department of Pediatrics, AMEOS Klinikum St. Clemens Oberhausen, Oberhausen, Germany.; Schlüter Martin A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Schluth-Bolard C; GCS AURAGEN, Lyon, France.; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; UMRS 1112, INSERM, Université de Strasbourg, Strasbourg, France.; Schuhmann S; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Schröder C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Sebastin M; Department of Pediatrics, Division of Pediatric Genetic, Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.; Sigaudy S; Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France.; Spielmann M; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Spodenkiewicz M; Department of Genetics, La Réunion University Hospital, Saint-Pierre, France.; St Clair L; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, New South Wales, Australia.; Steffann J; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Stoeva R; Service de Génétique Médicale, Centre Hospitalier du Mans, Le Mans, France.; Surowy H; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Tarnopolsky MA; Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada.; Todosi C; Centre de Référence des Epilepsies Rares (CRéER), CHRU Nancy, Vandoeuvre les Nancy, France.; Service de Médecine Infantile, CHRU, Vandoeuvre les Nancy, France.; Toutain A; Génétique Médicale, Centre Hospitalier Universitaire; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Tran Mau-Them F; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR 1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, Dijon, France.; Unterlauft A; Department of Neurology, University of Leipzig Medical Center, Leipzig, Germany.; Van-Gils J; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France.; Vanlerberghe C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Vasileiou G; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen, University Hospital Erlangen, Erlangen, Germany.; Vera G; Univ. 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Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

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Electronic address: Anne.ODonnell@childrens.harvard.edu.; Pais LS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.; Faundes V; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile.; Wood JC; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.; Sveden A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.; Luria V; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.; Accogli A; Department of Pediatrics, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Quebec, Canada; Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica Scienze Materno-Infantili, Università degli studi di Genova, 16126 Genova, Italy; IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Amburgey K; Division of Neurology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto M5G 1X8, ON, Canada.; Anderlid BM; Department of Molecular Medicine and Surgery, Centre for Molecular Medicine, Karolinska Institutet, Stockholm 17176, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm 17176, Sweden.; Azzarello-Burri S; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich CH-8952, Switzerland; Neuroscience Center Zurich, University of Zurich and Eidgenössische Technische Hochschule, Zurich 8057, Switzerland.; Basinger AA; Genetics, Cook Children's Physician Network, Fort Worth, TX 76104, USA.; Bianchini C; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy.; Bird LM; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Division of Genetics, Rady Children's Hospital of San Diego, San Diego, CA 92123, USA.; Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany.; Carre W; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France.; Ceulemans S; Division of Genetics, Rady Children's Hospital of San Diego, San Diego, CA 92123, USA.; Charles P; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France.; Cox H; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham B15 2TG, UK; Birmingham Health Partners, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham B15 2TG, UK.; Culliton L; Department of Neurology, Children's Mercy Hospital and Clinics, Kansas City, MO 64108, USA.; Currò A; Medical Genetics, University of Siena, 53100 Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.; Demurger F; Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, 35033 Rennes, France.; Dowling JJ; Division of Neurology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto M5G 1X8, ON, Canada.; Duban-Bedu B; Centre de Génétique Chromosomique, Groupement des Hôpitaux de l'Institut Catholique de Lille Hôpital Saint Vincent de Paul, 59020 Lille, France; Faculté de médecine de l'Université Catholoique de Lille, 59800 Lille, France.; Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France.; Eiset SE; Department of Clinical Genetics, Aarhus University Hospital, 8200 Aarhus, Denmark.; Escobar LF; St. Vincent's Children's Hospital, Indianapolis, IN 46260, USA.; Ferrarini A; Medical Genetic Unit, Italian Hospital of Lugano, Lugano, Switzerland; Università della Svizzera Italiana, 6900 Lugano, Switzerland.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany.; Hashim M; Oxford National Institute for Health Research Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Heide S; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France.; Helbig KL; Division of Neurology and Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Helbig I; Division of Neurology and Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104 USA; Department of Neuropediatrics, University Medical Center, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.; Heredia R; GeneDx, Gaithersburg, MD 20877, USA.; Héron D; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France.; Isidor B; Service de Génétique Médicale, Hôpital Hôtel-Dieu, Centre Hospitalier Universitaire de Nantes, 44093 Nantes, France.; Jonasson AR; Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, FL 32610, USA.; Joset P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich CH-8952, Switzerland; Neuroscience Center Zurich, University of Zurich and Eidgenössische Technische Hochschule, Zurich 8057, Switzerland.; Keren B; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France.; Kok F; Mendelics Genomic Analysis, Sao Paulo 04013, Brazil.; Kroes HY; Department of Medical Genetics, University Medical Center Utrecht, 3584 CX Utrecht, Netherlands.; Lavillaureix A; Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, 35033 Rennes, France.; Lu X; Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7DQ, UK.; Maas SM; Department of Clinical Genetics, Amsterdam University Medical Center, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands.; Maegawa GHB; Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, FL 32610, USA.; Marcelis CLM; Department of Clinical Genetics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.; Mark PR; Division of Medical Genetics and Genomics, Spectrum Health, Grand Rapids, MI 49544, USA.; Masruha MR; Department of Neurology and Neurosurgery, Universidade de Federal de São Paulo, São Paulo 04023, Brazil.; McLaughlin HM; GeneDx, Gaithersburg, MD 20877, USA.; McWalter K; GeneDx, Gaithersburg, MD 20877, USA.; Melchinger EU; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany.; Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.; Nava C; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France.; Pendziwiat M; Department of Neuropediatrics, University Medical Center, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.; Person R; GeneDx, Gaithersburg, MD 20877, USA.; Ramelli GP; Neuropediatric Unit, Pediatric Department of Southern Switzerland, San Giovanni Hospital, 6500 Bellinzona, Switzerland.; Ramos LLP; Mendelics Genomic Analysis, Sao Paulo 04013, Brazil.; Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich CH-8952, Switzerland; Neuroscience Center Zurich, University of Zurich and Eidgenössische Technische Hochschule, Zurich 8057, Switzerland; Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases, University of Zurich, CH-8006 Zurich, Switzerland.; Reavey C; GeneDx, Gaithersburg, MD 20877, USA.; Renieri A; Medical Genetics, University of Siena, 53100 Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.; Rieß A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany.; Sanchez-Valle A; Department of Pediatrics, Division of Genetics and Metabolism, University of South Florida, Tampa, FL 33606, USA.; Sattar S; Section of Pediatric Neurology, Rady Children's Hospital, San Diego, CA 92123, USA; Department of Neurosciences, University of California San Diego, La Jolla, CA 92093, USA; Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA.; Saunders C; Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, Kansas City, MO 64108, USA; School of Medicine, University of Missouri, Kansas City, MO 64108, USA.; Schwarz N; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Smol T; EA7364 Rares du Developpement Embryonnaire et du Metabolisme, Institut de Genetique Medicale, Centre Hospitalier Universitaire de Lille, University of Lille, F-59000 Lille, France.; Srour M; Department of Pediatrics, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Quebec, Canada.; Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich CH-8952, Switzerland; Neuroscience Center Zurich, University of Zurich and Eidgenössische Technische Hochschule, Zurich 8057, Switzerland.; Syrbe S; Division of Child Neurology and Inherited Metabolic Diseases, Department of General Paediatrics, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Taylor JC; Oxford National Institute for Health Research Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.; Thiffault I; School of Medicine, University of Missouri, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital and Clinics, Kansas City, MO 64108, USA.; Trauner DA; Section of Pediatric Neurology, Rady Children's Hospital, San Diego, CA 92123, USA; Department of Neurosciences, University of California San Diego, La Jolla, CA 92093, USA; Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA.; van der Linden H Jr; Pediatric Neurology and Neurophysiology, Instituto de Neurologia de Goiania, Goiania 74210, Brazil.; van Koningsbruggen S; Department of Clinical Genetics, Amsterdam University Medical Center, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands.; Villard L; Department of Medical Genetics, Assistance Publique - Hôpitaux de Marseille, Hôpital d'Enfants de La Timone, 13005 Marseille, France; Marseille Medical Genetics Center, Aix Marseille Univ, Inserm, U1251, Marseille, France.; Vogel I; Department of Clinical Genetics, Aarhus University Hospital, 8200 Aarhus, Denmark; Center for Fetal Diagnostics, Aarhus University Hospital, 8200 Aarhus, Denmark.; Vogt J; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham B15 2TG, UK; Birmingham Health Partners, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham B15 2TG, UK.; Weber YG; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany; Department for Neurosurgery, University of Tübingen, 72076 Tübingen, Germany.; Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA.; Widjaja E; Department of Diagnostic Imaging, Hospital for Sick Children, University of Toronto, Toronto, M5G 1X8, ON, Canada.; Zak J; Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7DQ, UK; Department of Immunology and Microbiology, The Scripps Research Institute, La Jolla, CA 92037, USA.; Baxter S; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.; Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University National Health Service Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: Lance.Rodan@childrens.harvard.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Corbett MA; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.; Kroes T; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.; Veneziano L; Institute of Translational Pharmacology, National Research Council, Rome, Italy.; Bennett MF; Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, VIC, Australia.; Department of Medical Biology, the University of Melbourne, Melbourne, 3010, VIC, Australia.; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.; Florian R; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.; Coppola A; Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Napoli, Italy.; Licchetta L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Franceschetti S; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE, London, UK.; Suppa A; Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185, Rome, Italy.; IRCCS Neuromed, Pozzilli, IS, Italy.; Wenger A; Pacific Biosciences, Menlo Park, CA, USA.; Mei D; Neuroscience and Neurogenetics Department, Meyer Children's Hospital, Florence, Italy.; Pendziwiat M; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.; Kaya S; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Delledonne M; Department of Biotechnology, University of Verona, Strada le Grazie 15, 37134, Verona, Italy.; Straussberg R; Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Tel Aviv University Medical School, 69978, Tel Aviv, Israel.; Xumerle L; Personal Genomics, Strada le Grazie 15, 37134, Verona, Italy.; Regan B; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.; Crompton D; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.; Department of Neurology, Northern Health, Melbourne, VIC, Australia.; van Rootselaar AF; Amsterdam UMC, University of Amsterdam, Department of Neurology and Clinical Neurophysiology, Amsterdam Neuroscience, Amsterdam, The Netherlands.; Correll A; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Catford R; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Bisulli F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Chakraborty S; Pacific Biosciences, Menlo Park, CA, USA.; Baldassari S; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Tinuper P; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Barton K; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.; Carswell S; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.; Smith M; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.; St-Vincent's Clinical School, Faulty of Medicine, UNSW Sydney, Darlinghurst, NSW, 2010, Australia.; Berardelli A; Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185, Rome, Italy.; IRCCS Neuromed, Pozzilli, IS, Italy.; Carroll R; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.; Gardner A; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.; Friend KL; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Blatt I; Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel.; Iacomino M; Laboratory of Neurogenetics, IRCCS Istituto 'G. Gaslini', Genova, Italy.; Di Bonaventura C; Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185, Rome, Italy.; Striano S; Department of Neurology, Federico II University, Napoli, Italy.; Buratti J; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France.; Keren B; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France.; Nava C; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France.; Forlani S; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France.; Rudolf G; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U1258, Illkirch, France.; Université de Strasbourg, Illkirch, France.; Department of Neurology, Strasbourg University Hospital, Strasbourg, France.; Centre National de la Recherche Scientifique, U7104, Illkirch, France.; Hirsch E; Department of Neurology, Strasbourg University Hospital, Strasbourg, France.; Leguern E; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France.; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France.; Labauge P; MS Unit, Montpellier University Hospital, Montpellier, France.; Balestrini S; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter, SL9 0RJ, UK.; Sander JW; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter, SL9 0RJ, UK.; Afawi Z; Tel Aviv University Medical School, 69978, Tel Aviv, Israel.; Helbig I; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.; Division of Neurology Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Ishiura H; Department of Neurology, the University of Tokyo Hospital, Tokyo, Japan.; Tsuji S; Department of Neurology, the University of Tokyo Hospital, Tokyo, Japan.; Medical Genome Center, the University of Tokyo Hospital, Tokyo, Japan.; International University of Health and Welfare, Chiba, Japan.; Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter, SL9 0RJ, UK.; Casari G; TIGEM - Telethon Institute of Genetics and Medicine, Naples, and San Raffaele University, Milan, Italy.; Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, Wellington, New Zealand.; van Coller R; University of Pretoria, Pretoria, South Africa.; Tijssen MAJ; Department of Neurology, University of Groningen, Groningen, The Netherlands.; Klein KM; Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Goethe University, Frankfurt am Main, Frankfurt, Germany.; Department of Neurology, Epilepsy Center Hessen, Philipps University, Marburg, Marburg, Germany.; Departments of Clinical Neurosciences, Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; van den Maagdenberg AMJM; Departments of Human Genetics & Neurology, Leiden University Medical Centre, Leiden, The Netherlands.; Zara F; Laboratory of Neurogenetics, IRCCS Istituto 'G. Gaslini', Genova, Italy.; Guerrini R; Neuroscience and Neurogenetics Department, Meyer Children's Hospital, Florence, Italy.; Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.; Pippucci T; Medical Genetics Unit, Sant'Orsola-Malpighi University Hospital, Bologna, Italy.; Canafoglia L; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE, London, UK.; Bahlo M; Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, VIC, Australia.; Department of Medical Biology, the University of Melbourne, Melbourne, 3010, VIC, Australia.; Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'G. Gaslini', Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova, Italy.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, 3084, VIC, Australia.; Royal Children's Hospital, Murdoch Children's Research Institute and Florey Institute, Melbourne, VIC, Australia.; Brancati F; Institute of Translational Pharmacology, National Research Council, Rome, Italy.; Medical Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.; Depienne C; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, U7104, Illkirch, France.; Gecz J; Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia. jozef.gecz@adelaide.edu.au.; South Australian Health and Medical Research Institute, Adelaide, 5000, SA, Australia. jozef.gecz@adelaide.edu.au.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Raanan H; Department of Plant and Environmental Sciences, Edmond J. Safra Campus, Givat Ram, The Hebrew University of Jerusalem, Jerusalem, 9190401, Israel.; Felde VJ; Institute of Soil Science and Soil Conservation, Justus Liebig University Giessen, 35392, Giessen, Germany.; Peth S; Deparment of Soil Science, Faculty of Ecological Agriculture, University of Kassel, 37213, Witzenhausen, Germany.; Drahorad S; Institute of Soil Science and Soil Conservation, Justus Liebig University Giessen, 35392, Giessen, Germany.; Ionescu D; The Max Planck Institute for Marine Microbiology, Celsius Str. 1, 28359, Bremen, Germany.; Eshkol G; Department of Plant and Environmental Sciences, Edmond J. Safra Campus, Givat Ram, The Hebrew University of Jerusalem, Jerusalem, 9190401, Israel.; Treves H; Department of Plant and Environmental Sciences, Edmond J. Safra Campus, Givat Ram, The Hebrew University of Jerusalem, Jerusalem, 9190401, Israel.; Felix-Henningsen P; Institute of Soil Science and Soil Conservation, Justus Liebig University Giessen, 35392, Giessen, Germany.; Berkowicz SM; Department of Plant and Environmental Sciences, Edmond J. Safra Campus, Givat Ram, The Hebrew University of Jerusalem, Jerusalem, 9190401, Israel.; Arid Ecosystems Research Center, Edmond J. Safra Campus, Givat Ram, The Hebrew University of Jerusalem, Jerusalem, 9190401, Israel.; Keren N; Department of Plant and Environmental Sciences, Edmond J. Safra Campus, Givat Ram, The Hebrew University of Jerusalem, Jerusalem, 9190401, Israel.; Horn R; Institute of Plant Nutrition and Soil Science, Christian Albrechts University of Kiel, 24118, Kiel, Germany.; Hagemann M; Institut für Biowissenschaften, Universität Rostock, D-18059, Rostock, Germany.; Kaplan A; Department of Plant and Environmental Sciences, Edmond J. Safra Campus, Givat Ram, The Hebrew University of Jerusalem, Jerusalem, 9190401, Israel.; Arid Ecosystems Research Center, Edmond J. Safra Campus, Givat Ram, The Hebrew University of Jerusalem, Jerusalem, 9190401, Israel.

Publisher: Blackwell Science Country of Publication: England NLM ID: 100883692 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1462-2920 (Electronic) Linking ISSN: 14622912 NLM ISO Abbreviation: Environ Microbiol Subsets: MEDLINE

Johannesen KM; The Danish Epilepsy Center Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark.; Gardella E; The Danish Epilepsy Center Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark.; Linnankivi T; Department of Child Neurology, Children's Hospital, Helsinki University Hospital Helsinki, University of Helsinki, Helsinki, Finland.; Courage C; The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.; Research Programs Unit, Molecular Neurology and Neuroscience Center, Helsinki, Finland.; de Saint Martin A; Department of Pediatrics, Pediatric Neurology, University Hospital of Strasbourg, Strasbourg, France.; Reference Center for Rare Epilepsies, Strasbourg, France.; Lehesjoki AE; The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.; Research Programs Unit, Molecular Neurology and Neuroscience Center, Helsinki, Finland.; Mignot C; Department of Genetics, Center for Rare causes of Intellectual Disabilities and UPMC Research Group 'Intellectual Disabilities and Autism', Paris, France.; Afenjar A; APHP, Genetic Services, Hospital Trousseau, Paris, France.; Lesca G; Departments of Genetics, Lyon University Hospitals, Lyon, France.; Claude Bernard Lyon I University, Lyon, France.; Lyon Neuroscience Research Center, CNRS UMRS5292, INSERM U1028, Lyon, France.; Abi-Warde MT; Department of Pediatrics, Pediatric Neurology, University Hospital of Strasbourg, Strasbourg, France.; Reference Center for Rare Epilepsies, Strasbourg, France.; Chelly J; Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire (IGBMC), Illkirch, France.; Laboratory of Genetic Diagnosis, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Piton A; Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire (IGBMC), Illkirch, France.; Laboratory of Genetic Diagnosis, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Merritt JL 2nd; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Rodan LH; Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Tan WH; Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Bird LM; Division of Genetics, Department of Pediatrics, Rady Children's Hospital San Diego, University of California San Diego, San Diego, CA, USA.; Nespeca M; Division of Neurology, Rady Children's Hospital, University of California, San Diego, CA, USA.; Gleeson JG; Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.; Yoo Y; Department of Biomedical Sciences, Seoul National University School of Medicine, Seoul, South Korea.; Choi M; Department of Biomedical Sciences, Seoul National University School of Medicine, Seoul, South Korea.; Chae JH; Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University School of Medicine, Seoul, South Korea.; Czapansky-Beilman D; Pediatric Neurology, Gillette Children's Specialty Healthcare, Burnsville, MN, USA.; Reichert SC; Children's Minnesota, Minneapolis, MN, USA.; Pendziwiat M; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany.; Verhoeven JS; Department of Neurology, Academic Center for Epileptology, Heeze, The Netherlands.; Schelhaas HJ; Department of Neurology, Academic Center for Epileptology, Heeze, The Netherlands.; Devinsky O; NYU Epilepsy Center, New York, NY, USA.; Christensen J; Department of Neurology, Aarhus University Hospital, Aarhus, Denmark.; Specchio N; Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Trivisano M; Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Weber YG; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tüebingen, Tüebingen, Germany.; Nava C; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Sorbonne Universities, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France.; Keren B; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Sorbonne Universities, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France.; Doummar D; Assistance Publique-Hôpitaux de Paris, Neuropediatric Services, Hospital Armand Trousseau, Paris, France.; Schaefer E; Medical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Hopkins S; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Dubbs H; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Shaw JE; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Pisani L; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Myers CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Tang S; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.; Tang S; Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; Pal DK; Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; Millichap JJ; Epilepsy Center and Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Carvill GL; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Helbig KL; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.; Mecarelli O; Department of Neurology and Psychiatry, Neurophysiopathology and Neuromuscular Diseases, University of Sapeinza, Rome, Italy.; Striano P; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa 'G. Gaslini' Institute, Genova, Italy.; Helbig I; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany.; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Rubboli G; The Danish Epilepsy Center Filadelfia, Dianalund, Denmark.; University of Copenhagen, Copenhagen, Denmark.; Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Møller RS; The Danish Epilepsy Center Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Nava C; 1] INSERM UMR 975, Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, Paris, France. [2] CNRS 7225, Hôpital Pitié-Salpêtrière, Paris, France. [3] Université Pierre et Marie Curie-Paris 6 (UPMC), UMRS 975, Paris, France. [4] Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité Fonctionnelle de Neurogénétique Moléculaire et Cellulaire, Paris, France. [5].; Dalle C; 1] INSERM UMR 975, Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, Paris, France. [2] Institut du Cerveau et de la Moelle Epinière, Plateforme d'Electrophysiologie, Paris, France. [3].; Rastetter A; INSERM UMR 975, Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, Paris, France.; Striano P; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G Gaslini Institute', Genova, Italy.; de Kovel CG; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Nabbout R; 1] Department of Pediatric Neurology, Centre de Référence Epilepsies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France. [2] INSERM U663, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.; Cancès C; Service de Neurologie Pédiatrique, Hôpital des Enfants, Centre Hospitalier Universitaire de Toulouse, Toulouse, France.; Ville D; Service de Neurologie Pédiatrique, Hôpital Femme Mère Enfant, Centre Hospitalier Universitaire de Lyon, Bron, France.; Brilstra EH; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Gobbi G; Child Neurology Unit, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Institute of Neurological Sciences of Bologna, Bologna, Italy.; Raffo E; Service de Neuropédiatrie, Hôpital d'Enfants de Brabois, Centre Hospitalier Universitaire de Nancy, Vandoeuvre Les Nancy, France.; Bouteiller D; Institut du Cerveau et de la Moelle Epinière, Plateforme de Génotypage et Séquençage, Paris, France.; Marie Y; Institut du Cerveau et de la Moelle Epinière, Plateforme de Génotypage et Séquençage, Paris, France.; Trouillard O; 1] INSERM UMR 975, Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, Paris, France. [2] Université Pierre et Marie Curie-Paris 6 (UPMC), UMRS 975, Paris, France. [3] Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité Fonctionnelle de Neurogénétique Moléculaire et Cellulaire, Paris, France.; Robbiano A; Laboratory of Neurogenetics, Department of Neurosciences, Gaslini Institute, Genova, Italy.; Keren B; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité Fonctionnelle de Cytogénétique, Paris, France.; Agher D; INSERM UMR 975, Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, Paris, France.; Roze E; 1] INSERM UMR 975, Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, Paris, France. [2] CNRS 7225, Hôpital Pitié-Salpêtrière, Paris, France. [3] Université Pierre et Marie Curie-Paris 6 (UPMC), UMRS 975, Paris, France.; Lesage S; 1] INSERM UMR 975, Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, Paris, France. [2] CNRS 7225, Hôpital Pitié-Salpêtrière, Paris, France. [3] Université Pierre et Marie Curie-Paris 6 (UPMC), UMRS 975, Paris, France.; Nicolas A; 1] INSERM UMR 975, Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, Paris, France. [2] CNRS 7225, Hôpital Pitié-Salpêtrière, Paris, France. [3] Université Pierre et Marie Curie-Paris 6 (UPMC), UMRS 975, Paris, France.; Brice A; 1] INSERM UMR 975, Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, Paris, France. [2] CNRS 7225, Hôpital Pitié-Salpêtrière, Paris, France. [3] Université Pierre et Marie Curie-Paris 6 (UPMC), UMRS 975, Paris, France. [4] Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité Fonctionnelle de Neurogénétique Moléculaire et Cellulaire, Paris, France.; Baulac M; 1] INSERM UMR 975, Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, Paris, France. [2] CNRS 7225, Hôpital Pitié-Salpêtrière, Paris, France. [3] Université Pierre et Marie Curie-Paris 6 (UPMC), UMRS 975, Paris, France.; Vogt C; Institüt für Humangenetik, Universität Würzburg, Würzburg, Germany.; El Hajj N; Institüt für Humangenetik, Universität Würzburg, Würzburg, Germany.; Schneider E; Institüt für Humangenetik, Universität Würzburg, Würzburg, Germany.; Suls A; 1] Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Weckhuysen S; 1] Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Gormley P; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.; Lehesjoki AE; 1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Research Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki, Finland.; De Jonghe P; 1] Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Helbig I; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany.; Baulac S; 1] INSERM UMR 975, Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, Paris, France. [2] CNRS 7225, Hôpital Pitié-Salpêtrière, Paris, France. [3] Université Pierre et Marie Curie-Paris 6 (UPMC), UMRS 975, Paris, France.; Zara F; Laboratory of Neurogenetics, Department of Neurosciences, Gaslini Institute, Genova, Italy.; Koeleman BP; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Haaf T; Institüt für Humangenetik, Universität Würzburg, Würzburg, Germany.; LeGuern E; 1] INSERM UMR 975, Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, Paris, France. [2] CNRS 7225, Hôpital Pitié-Salpêtrière, Paris, France. [3] Université Pierre et Marie Curie-Paris 6 (UPMC), UMRS 975, Paris, France. [4] Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité Fonctionnelle de Neurogénétique Moléculaire et Cellulaire, Paris, France.; Depienne C; 1] INSERM UMR 975, Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, Paris, France. [2] Université Pierre et Marie Curie-Paris 6 (UPMC), UMRS 975, Paris, France. [3] Institüt für Humangenetik, Universität Würzburg, Würzburg, Germany.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE