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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 DDD study and The DDD study
Nature communications, ISSN 2041-1723, 02/2019, 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
European Journal of Human Genetics, ISSN 1018-4813, 10/2018, Volume 26, Issue 10, pp. 1521 - 1536
RASA1-related disorders are vascular malformation syndromes characterized by hereditary capillary malformations (CM) with or without arteriovenous... 
SIMULTANEOUS DELETION | MEF2C | HEREDITARY HEMORRHAGIC TELANGIECTASIA | PROTEIN | NEUROCUTANEOUS SYNDROME | WEBER-SYNDROME | VARIANTS | ANOMALIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | PHENOTYPE | MUTATIONS | Clonal deletion | Phenotypes | Hybridization
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 DDD study and The DDD study
Nature communications, ISSN 2041-1723, 05/2019, 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
by Snijders Blok, Lot and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Rodan, Lance H and Nowak, Catherine B and Nowak, Catherine B and Douglas, Jessica and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T. R. M and Stumpel, Connie T R M and Stegmann, Alexander P. A and Stegmann, Alexander P A and Wheeler, Patricia and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Kochhar, Aaina and Gibson, William T and Gibson, William T and Cohen, Ana S. A and Cohen, Ana S A and Agbahovbe, Ruky and Agbahovbe, Ruky and Innes, A Micheil and Innes, A. Micheil and Au, P Y Billie and Au, P. Y. Billie and Rankin, Julia and Anderson, Ilse J and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Afenjar, Alexandra and Keren, Boris and Keren, Boris and Nava, Caroline and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Isapof, Arnaud and Rodriguez, Diana and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Choi, Murim and Lee, Sangmoon and Lee, Sangmoon and Chae, Jong H and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Zweier, Christiane and Reis, André and Reis, André and Bialer, Martin G and Bialer, Martin G and Moore, Christine and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L. I and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Newbury-Ecob, Ruth and Bownass, Lucy and Bownass, Lucy and Bader, Ingrid and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Wortmann, Saskia B and Jakielski, Kathy J and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Machida, Shinichi and Kurumizaka, Hitoshi and ... and DDD Study and DDD study and The DDD study
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 4619 - 12
Journal Article
by Johnson, Brett V and Kumar, Raman and Oishi, Sabrina and Alexander, Suzy and Kasherman, Maria and Vega, Michelle Sanchez and Ivancevic, Atma and Gardner, Alison and Domingo, Deepti and Corbett, Mark and Parnell, Euan and Yoon, Sehyoun and Oh, Tracey and Lines, Matthew and Lefroy, Henrietta and Kini, Usha and Van Allen, Margot and Grønborg, Sabine and Mercier, Sandra and Küry, Sébastien and Bézieau, Stéphane and Pasquier, Laurent and Raynaud, Martine and Afenjar, Alexandra and Billette de Villemeur, Thierry and Keren, Boris and Désir, Julie and Van Maldergem, Lionel and Marangoni, Martina and Dikow, Nicola and Koolen, David A and VanHasselt, Peter M and Weiss, Marjan and Zwijnenburg, Petra and Sa, Joaquim and Reis, Claudia Falcao and López-Otín, Carlos and Santiago-Fernández, Olaya and Fernández-Jaén, Alberto and Rauch, Anita and Steindl, Katharina and Joset, Pascal and Goldstein, Amy and Madan-Khetarpal, Suneeta and Infante, Elena and Zackai, Elaine and Mcdougall, Carey and Narayanan, Vinodh and Ramsey, Keri and Mercimek-Andrews, Saadet and Pena, Loren and Shashi, Vandana and Schoch, Kelly and Sullivan, Jennifer A and Pinto E Vairo, Filippo and Pichurin, Pavel N and Ewing, Sarah A and Barnett, Sarah S and Klee, Eric W and Perry, M Scott and Koenig, Mary Kay and Keegan, Catherine E and Schuette, Jane L and Asher, Stephanie and Perilla-Young, Yezmin and Smith, Laurie D and Rosenfeld, Jill A and Bhoj, Elizabeth and Kaplan, Paige and Li, Dong and Oegema, Renske and van Binsbergen, Ellen and van der Zwaag, Bert and Smeland, Marie Falkenberg and Cutcutache, Ioana and Page, Matthew and Armstrong, Martin and Lin, Angela E and Steeves, Marcie A and Hollander, Nicolette den and Hoffer, Mariëtte J V and Reijnders, Margot R F and Demirdas, Serwet and Koboldt, Daniel C and Bartholomew, Dennis and Mosher, Theresa Mihalic and Hickey, Scott E and Shieh, Christine and Sanchez-Lara, Pedro A and Graham, Jr, John M and Tezcan, Kamer and Schaefer, G B and Danylchuk, Noelle R and Asamoah, Alexander and Jackson, Kelly E and Yachelevich, Naomi and Au, Margaret and Pérez-Jurado, Luis A and Kleefstra, Tjitske and Penzes, Peter and ... and Undiagnosed Diseases Network
Biological psychiatry, ISSN 0006-3223, 06/2019
The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X... 
Journal Article
Telegraph-Journal, ISSN 1910-8001, 05/2015
  [...]places went to a pair of Saint Johners, Katie Robinson in 19:39 and Marcie Holland in 20:35. 
Marathons
Newspaper Article
Bangor Daily News, ISSN 0892-8738, 11/2009
Penobscot Theatre's managing director Marcie Bramucci thinks the fun factor is what is drawing people to buy tickets. 
Theater | Artistic directors | Performing arts
Newspaper Article
Telegraph-Journal, ISSN 1910-8001, 08/2019
Newspaper Article
Telegraph-Journal, ISSN 1910-8001, 08/2015
  There is also a unique event called the Family Read and Run, which has celebrity readers reading families the book Marathon Mouse, in parts, as they work... 
Women | Marathons | Swimming
Newspaper Article