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United States
info:eu-repo/grantAgreement/EC/FP7/279062
United States
info:eu-repo/grantAgreement/EC/FP7/279062
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Joshua E. Motelow; Gundula Povysil; Ryan S. Dhindsa; Kate E. Stanley; Andrew S. Al- len; Yen-Chen Anne Feng; Daniel P. Howrigan; Liam E. Abbott; Ka- therine Tashman; Felecia Cerrato; Caroline Cusick; Tarjinder Singh; Henrike Heyne; Andrea E. Byrnes; Claire Churchhouse; Nick Watts; Matthew Solomonson; Dennis Lal; Namrata Gupta; Benjamin M. Neale; Gianpiero L. Cavalleri; Patrick Cossette; Chris Cotsapas; Peter De Jonghe; Tracy Dixon-Salazar; Renzo Guerrini; Hakon Hakonarson; Erin L. Heinzen; Ingo Helbig; Patrick Kwan; Anthony G. Marson; Slave ? Petrovski; Sitharthan Kamalakaran; Sanjay M. Sisodiya; Randy Stewart; Sarah Weckhuysen; Chantal Depondt; Dennis J. Dlugos; Ingrid E. Scheffer; Pasquale Striano; Catharine Freyer; Roland Krause; Patrick May; Kevin McKenna; Brigid M. Regan; Caitlin A. Bennett; Costin Leu; Stephanie L. Leech; Terence J. O'Brien; Marian Todaro; Hannah Stamberger; Danielle M. Andrade; Quratulain Zulfiqar Ali; Tara R. Sadoway; Heinz Krestel; Andre ? Schaller; Savvas S. Papacostas; Ioanna Kou- siappa; George A. Tanteles; Yiolanda Christou; Katalin Sterbova ?; Marke ? ta Vlckova ?; Lucie Sedlackova; Petra Lassuthova ?; Karl Martin Klein; Felix Rosenow; Philipp S. Reif; Susanne Knake; Bernd A. Neubauer; Friedrich Zimprich; Martha Feucht; Eva M. Reinthaler; Wolfram S. Kunz; Ga ?bor Zsurka; Rainer Surges; Tobias Baumgart- ner; Randi von Wrede; Manuela Pendziwiat; Hiltrud Muhle; An- nika Rademacher; Andreas van Baalen; Sarah von Spiczak; Ulrich Stephani; Zaid Afawi; Amos D. Korczyn; Moien Kanaan; Christina Canavati; Gerhard Kurlemann; Karen Mu ?ller-Schlu ?ter; Gerhard Kluger; Martin Ha ?usler; Ilan Blatt; Johannes R. Lemke; Ilona Krey; Yvonne G. Weber; Stefan Wolking; Felicitas Becker; Stephan Lauxmann; Christian Boßelmann; Josua Kegele; Christian Hengs- bach; Sarah Rau; Bernhard J. Steinhoff; Andreas Schulze-Bonhage; IngoBorggra ?fe; ChristophJ.Schankin; SusanneSchubert-Bast; Herbert Schreiber; Thomas Mayer; Rudolf Korinthenberg; Knut Brockmann; Markus Wolff; Dieter Dennig; Rene Madeleyn; Reetta Ka ?lvia ?inen; Anni Saarela; Oskari Timonen; Tarja Linnankivi; Anna-Elina Lehesjoki; Sylvain Rheims; Gaetan Lesca; Philippe Ryvlin; Louis Maillard; Luc Valton; Philippe Derambure; Fabrice Bartolomei; Edouard Hirsch; Ve ?ronique Michel; Francine Chas- soux; Mark I. Rees; Seo-Kyung Chung; William O. Pickrell; Robert Powell; Mark D. Baker; Beata Fonferko-Shadrach; Charlotte Law- thom; Joseph Anderson; Natascha Schneider; Simona Balestrini; Sara Zagaglia; Vera Braatz; Michael R. Johnson; Pauls Auce; Graeme J. Sills; Larry W. Baum; Pak C. Sham; Stacey S. Cherny; Colin H.T. Lui; Norman Delanty; Colin P. Doherty; Arif Shukralla; Hany El-Naggar; Peter Widdess-Walsh; Nina Barisic; Laura 12 The American Journal of Human Genetics 108; 1-18; June 3; 2021 Please cite this article in press as: Epi25 Collaborative; Sub-genic intolerance; ClinVar; the epilepsies: A whole-exome sequencing study of 29; 165 individuals; The American Journal of Human Genetics (2021); https://doi.org/10.1016/j.ajhg.2021.04.009 Canafoglia; Silvana Franceschetti; Barbara Castellotti; Tiziana Granata; Francesca Ragona; Federico Zara; Michele Iacomino; An- tonella Riva; Francesca Madia; Maria Stella Vari; Vincenzo Salpie- tro; Marcello Scala; Maria Margherita Mancardi; Lino Nobili; Elisa- betta Amadori; Thea Giacomini; Francesca Bisulli; Tommaso Pippucci; Laura Licchetta; Raffaella Minardi; Paolo Tinuper; Lor- enzo Muccioli; Barbara Mostacci; Antonio Gambardella; Angelo Labate; Grazia Annesi; Lorella Manna; Monica Gagliardi; Elena Parrini; Davide Mei; Annalisa Vetro; Claudia Bianchini; Martino Montomoli; Viola Doccini; Carmen Barba; Shinichi Hirose; At- sushi Ishii; Toshimitsu Suzuki; Yushi Inoue; Kazuhiro Yamakawa; Ahmad Beydoun; Wassim Nasreddine; Nathalie Khoueiry Zgheib; Birute Tumiene; Algirdas Utkus; Lynette G. Sadleir; Chontelle King; S. Hande Caglayan; Mutluay Arslan; Zuhal Yap?c?; P?nar To- paloglu; Bulent Kara; Uluc Yis; Dilsad Turkdogan; Asl? Gun- dogdu-Eken; Nerses Bebek; Meng-Han Tsai; Chen-Jui Ho; Chih- Hsiang Lin; Kuang-Lin Lin; I-Jun Chou; Annapurna Poduri; Beth R. Shiedley; Catherine Shain; Jeffrey L. Noebels; Alicia Goldman; Robyn M. Busch; Lara Jehi; Imad M. Najm; Lisa Ferguson; Jean Khoury; Tracy A. Glauser; Peggy O. Clark; Russell J. Buono; Thomas N. Ferraro; Michael R. Sperling; Warren Lo; Michael Privitera; Jac- queline A. French; Steven Schachter; Ruben I. Kuzniecky; Orrin Devinsky; Manu Hegde; David A. Greenberg; Colin A. Ellis; Ethan Goldberg; Katherine L. Helbig; Mahgenn Cosico; Priya Vaidis- waran; Eryn Fitch; Samuel F. Berkovic; Holger Lerche; Daniel H. Lowenstein; David B. Goldstein.
American journal of human genetics (2021). doi:10.1016/j.ajhg.2019.05.020
info:cnr-pdr/source/autori:Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Al-len, Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Ka-therine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea E. Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon-Salazar, Renzo Guerrini, Hakon Hakonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G. Marson, Slave ? Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis J. Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin McKenna, Brigid M. Regan, Caitlin A. Bennett, Costin Leu, Stephanie L. Leech, Terence J. O'Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara R. Sadoway, Heinz Krestel, Andre ? Schaller, Savvas S. Papacostas, Ioanna Kou-siappa, George A. Tanteles, Yiolanda Christou, Katalin Sterbova ?, Marke ? ta Vlckova ?, Lucie Sedlackova, Petra Lassuthova ?, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Friedrich Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Ga ?bor Zsurka, Rainer Surges, Tobias Baumgart-ner, Randi von Wrede, Manuela Pendziwiat, Hiltrud Muhle, An-nika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Mu ?ller-Schlu ?ter, Gerhard Kluger, Martin Ha ?usler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian Boßelmann, Josua Kegele, Christian Hengs-bach, Sarah Rau, Bernhard J. Steinhoff, Andreas Schulze-Bonhage, IngoBorggra ?fe,ChristophJ.Schankin,SusanneSchubert-Bast, Herbert Schreiber, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Markus Wolff, Dieter Dennig, Rene Madeleyn, Reetta Ka ?lvia ?inen, Anni Saarela, Oskari Timonen, Tarja Linnankivi, Anna-Elina Lehesjoki, Sylvain Rheims, Gaetan Lesca, Philippe Ryvlin, Louis Maillard, Luc Valton, Philippe Derambure, Fabrice Bartolomei, Edouard Hirsch, Ve ?ronique Michel, Francine Chas-soux, Mark I. Rees, Seo-Kyung Chung, William O. Pickrell, Robert Powell, Mark D. Baker, Beata Fonferko-Shadrach, Charlotte Law-thom, Joseph Anderson, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce,Graeme J. Sills , Larry W. Baum, Pak C. Sham, Stacey S. Cherny, Colin H.T. Lui, Norman Delanty, Colin P. Doherty, Arif Shukralla, Hany El-Naggar, Peter Widdess-Walsh, Nina Barisic, Laura 12 The American Journal of Human Genetics 108, 1-18, June 3, 2021 Please cite this article in press as: Epi25 Collaborative, Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals, The American Journal of Human Genetics (2021), https:%2F%2Fdoi.org%2F10.1016%2Fj.ajhg.2021.04.009 Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Francesca Ragona, Federico Zara, Michele Iacomino, An-tonella Riva, Francesca Madia, Maria Stella Vari, Vincenzo Salpie-tro, Marcello Scala, Maria Margherita Mancardi, Lino Nobili, Elisa-betta Amadori, Thea Giacomini, Francesca Bisulli, Tommaso Pippucci, Laura Licchetta, Raffaella Minardi, Paolo Tinuper, Lor-enzo Muccioli, Barbara Mostacci, Antonio Gambardella, Angelo Labate, Grazia Annesi, Lorella Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carmen Barba, Shinichi Hirose, At-sushi Ishii, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Ahmad Beydoun, Wassim Nasreddine, Nathalie Khoueiry Zgheib, Birute Tumiene, Algirdas Utkus, Lynette G. Sadleir, Chontelle King, S. Hande Caglayan, Mutluay Arslan, Zuhal Yap?c?, P?nar To-paloglu, Bulent Kara, Uluc Yis, Dilsad Turkdogan, Asl? Gun-dogdu-Eken, Nerses Bebek, Meng-Han Tsai, Chen-Jui Ho, Chih-Hsiang Lin, Kuang-Lin Lin, I-Jun Chou, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Jeffrey L. Noebels, Alicia Goldman, Robyn M. Busch, Lara Jehi, Imad M. Najm, Lisa Ferguson, Jean Khoury, Tracy A. Glauser, Peggy O. Clark, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren Lo, Michael Privitera, Jac-queline A. French, Steven Schachter, Ruben I. Kuzniecky, Orrin Devinsky, Manu Hegde, David A. Greenberg, Colin A. Ellis, Ethan Goldberg, Katherine L. Helbig, Mahgenn Cosico, Priya Vaidis-waran, Eryn Fitch, Samuel F. Berkovic, Holger Lerche, Daniel H. Lowenstein, and David B. Goldstein./titolo:Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals/doi:10.1016%2Fj.ajhg.2019.05.020/rivista:American journal of human genetics/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume
The American journal of human genetics
info:cnr-pdr/source/autori:Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Al-len, Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Ka-therine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea E. Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon-Salazar, Renzo Guerrini, Hakon Hakonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G. Marson, Slave ? Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis J. Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin McKenna, Brigid M. Regan, Caitlin A. Bennett, Costin Leu, Stephanie L. Leech, Terence J. O'Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara R. Sadoway, Heinz Krestel, Andre ? Schaller, Savvas S. Papacostas, Ioanna Kou-siappa, George A. Tanteles, Yiolanda Christou, Katalin Sterbova ?, Marke ? ta Vlckova ?, Lucie Sedlackova, Petra Lassuthova ?, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Friedrich Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Ga ?bor Zsurka, Rainer Surges, Tobias Baumgart-ner, Randi von Wrede, Manuela Pendziwiat, Hiltrud Muhle, An-nika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Mu ?ller-Schlu ?ter, Gerhard Kluger, Martin Ha ?usler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian Boßelmann, Josua Kegele, Christian Hengs-bach, Sarah Rau, Bernhard J. Steinhoff, Andreas Schulze-Bonhage, IngoBorggra ?fe,ChristophJ.Schankin,SusanneSchubert-Bast, Herbert Schreiber, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Markus Wolff, Dieter Dennig, Rene Madeleyn, Reetta Ka ?lvia ?inen, Anni Saarela, Oskari Timonen, Tarja Linnankivi, Anna-Elina Lehesjoki, Sylvain Rheims, Gaetan Lesca, Philippe Ryvlin, Louis Maillard, Luc Valton, Philippe Derambure, Fabrice Bartolomei, Edouard Hirsch, Ve ?ronique Michel, Francine Chas-soux, Mark I. Rees, Seo-Kyung Chung, William O. Pickrell, Robert Powell, Mark D. Baker, Beata Fonferko-Shadrach, Charlotte Law-thom, Joseph Anderson, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce,
The American journal of human genetics
Academic Journal
Alistair Jones; Melissa Barker‐Haliski; Andrei S. Ilie; Murray B. Herd; Sarah Baxendale; Celia J. Holdsworth; John‐Paul Ashton; Marysia Placzek; Bodiabaduge A. P. Jayasekera; Christopher J. A. Cowie; Jeremy J. Lambert; Andrew J. Trevelyan; H. Steve White; Anthony G. Marson; Vincent T. Cunliffe; Graeme J. Sills; Alan Morgan
Epilepsia
Academic Journal
Shi Quan Wong; Alistair Jones; Steven Dodd; Douglas Grimes; Jeff W. Barclay; Anthony G. Marson; Vincent T. Cunliffe; Robert D. Burgoyne; Graeme J. Sills; Alan Morgan
J Neurosci Methods
Journal of Neuroscience Methods
Journal of Neuroscience Methods
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Bangfu Zhu; Jennifer C. H. Mak; Andrew P. Morris; Anthony G. Marson; Jeff W. Barclay; Graeme J. Sills; Alan Morgan
Epilepsia
Zhu, B, Mak, J C H, Morris, A P, Marson, A G, Barclay, J W, Sills, G J & Morgan, A 2020, 'Functional analysis of epilepsy-associated variants in STXBP1/Munc18-1 using humanized Caenorhabditis elegans', Epilepsia, vol. 61, no. 4, pp. 810-821. https://doi.org/10.1111/epi.16464
Zhu, B, Mak, J C H, Morris, A P, Marson, A G, Barclay, J W, Sills, G J & Morgan, A 2020, 'Functional analysis of epilepsy-associated variants in STXBP1/Munc18-1 using humanized Caenorhabditis elegans', Epilepsia, vol. 61, no. 4, pp. 810-821. https://doi.org/10.1111/epi.16464
Academic Journal
Karen Tse; Dean Hammond; Deborah Simpson; Robert J. Beynon; Edward Beamer; Michael Tymianski; Michael W. Salter; Graeme J. Sills; Thimmasettappa Thippeswamy
JOURNAL OF NEUROSCIENCE RESEARCH
Book
Neuromethods ISBN: 9781071612538
Academic Journal
Royal Statistical Society, Journal of the Royal Statistical Society Series A. 183(2):515-534
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