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by Heinzen, Erin L and Swoboda, Kathryn J and Hitomi, Yuki and Gurrieri, Fiorella and De Vries, Boukje and Tiziano, F. Danilo and Fontaine, Bertrand and Walley, Nicole M and Heavin, Sinéad and Panagiotakaki, Eleni and Fiori, Stefania and Abiusi, Emanuela and Di Pietro, Lorena and Sweney, Matthew T and Newcomb, Tara M and Viollet, Louis and Huff, Chad and Jorde, Lynn B and Reyna, Sandra P and Murphy, Kelley J and Shianna, Kevin V and Gumbs, Curtis E and Little, Latasha and Silver, Kenneth and Ptáček, Louis J and Haan, Joost and Ferrari, Michel D and Bye, Ann M and Herkes, Geoffrey K and Whitelaw, Charlotte M and Webb, David and Lynch, Bryan J and Uldall, Peter and King, Mary D and Scheffer, Ingrid E and Neri, Giovanni and Arzimanoglou, Alexis and Van Den Maagdenberg, Arn M.J.M and Sisodiya, Sanjay M and Mikati, Mohamad A and Goldstein, David B and Koelewijn, Stephany and Kamphorst, Jessica and Geilenkirchen, Marije and Pelzer, Nadine and Ferrari, Michel and Van Den Maagdenberg, Arn and Zucca, Claudio and Franchini, Filippo and Vavassori, Rosaria and Giannotta, Melania and Gobbi, Giuseppe and Granata, Tiziana and Nardocci, Nardo and De Grandis, Elisa and Veneselli, Edvige and Stagnaro, Michela and Vigevano, Federico and Oechsler, Claudia and Nicole, Sophie and Ninan, Miriam and Neville, Brian and Ebinger, Friedrich and Fons, Carmen and Campistol, Jaume and Kemlink, David and Nevsimalova, Sona and Laan, Laura and Peeters-Scholte, Cacha and Casaer, Paul and Casari, Giorgio and Sange, Guenter and Spiel, Georg and Boneschi, Filippo Martinelli and Bassi, Maria Teresa and Schyns, Tsveta and Crawley, Francis and Poncelin, Dominique and European Alternating Hemiplegia and European Network Res Alternating and Biobanca Registro Clinico and European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium and European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium and Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1030 - 1034
Journal Article
American journal of human genetics, ISSN 0002-9297, 2017, Volume 100, Issue 2, pp. 297 - 315
Journal Article
Annals of neurology, ISSN 1531-8249, 2017, Volume 82, Issue 6, pp. 883 - 891
Journal Article
by Snijders Blok, Lot and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T. R. M and Stegmann, Alexander P. A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S. A and Agbahovbe, Ruky and Innes, A. Micheil and Au, P. Y. Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L. I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and The DDD study and DDD Study and DDD study
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 4619 - 12
Journal Article
Journal Article
by Blok, Lot Snijders and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T. R. M and Stegmann, Alexander P. A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S. A and Agbahovbe, Ruky and Innes, A. Micheil and Au, P. Y. Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L. I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and The DDD study and DDD study
Nature communications, ISSN 2041-1723, 2019, Volume 10, Issue 1, pp. 883 - 4
The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has... 
DNA helicase | Neurodevelopmental disorders | Mutation
Journal Article
by Snijders Blok, Lot and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T. R. M and Stegmann, Alexander P. A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S. A and Agbahovbe, Ruky and Innes, A. Micheil and Au, P. Y. Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L. I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and The DDD study and DDD study
Nature communications, ISSN 2041-1723, 2019, Volume 10, Issue 1, pp. 2079 - 4
The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1. 
DNA helicase | Neurodevelopmental disorders | Mutation
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2015, Volume 10, Issue 5, p. e0127045
Journal Article