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by Duncan, Laramie and Yilmaz, Zeynep and Gaspar, Helena and Walters, Raymond and Goldstein, Jackie and Anttila, Verneri and Bulik-Sullivan, Brendan and Ripke, Stephan and Thornton, Laura and Hinney, Anke and Daly, Mark and Sullivan, Patrick F and Zeggini, Eleftheria and Breen, Gerome and Bulik, Cynthia M and Gaspar, Héléna and Adan, Roger and Alfredsson, Lars and Ando, Tetsuya and Andreassen, Ole and Aschauer, Harald and Baker, Jessica and Barrett, Jeffrey and Bencko, Vladimir and Bergen, Andrew and Berrettini, Wade and Birgegård, Andreas and Boni, Claudette and Perica, Vesna Boraska and Brandt, Harry and Burghardt, Roland and Carlberg, Laura and Cassina, Matteo and Cesta, Carolyn and Cichon, Sven and Clementi, Maurizio and Cohen-Woods, Sarah and Coleman, Joni and Cone, Roger and Courtet, Philippe and Crawford, Steven and Crow, Scott and Crowley, Jim and Danner, Unna and Davis, Oliver and de Zwaan, Martina and Dedoussis, George and Degortes, Daniela and DeSocio, Janiece and Dick, Danielle and Dikeos, Dimitris and Dina, Christian and Ding, Bo and Dmitrzak-Weglarz, Monika and Docampo, Elisa and Egberts, Karin and Ehrlich, Stefan and Escaramís, Geòrgia and Esko, Tõnu and Espeseth, Thomas and Estivill, Xavier and Favaro, Angela and Fernández-Aranda, Fernando and Fichter, Manfred and Finan, Chris and Fischer, Krista and Floyd, James and Föcker, Manuel and Foretova, Lenka and Forzan, Monica and Fox, Caroline and Franklin, Christopher and Gaborieau, Valerie and Gallinger, Steven and Gambaro, Giovanni and Giegling, Ina and Gonidakis, Fragiskos and Gorwood, Philip and Gratacos, Monica and Guillaume, Sébastien and Guo, Yiran and Hakonarson, Hakon and Halmi, Katherine and Harrison, Rebecca and Hatzikotoulas, Konstantinos and Hauser, Joanna and Hebebrand, Johannes and Helder, Sietske and Hendriks, Judith and Herms, Stefan and Herpertz-Dahlmann, Beate and Herzog, Wolfgang and Hilliard, Christopher and Huckins, Laura and Hudson, James and Huemer, Julia and Imgart, Hartmut and Inoko, Hidetoshi and Jall, Sigrid and Jamain, Stephane and ... and Eating Disorders Working Group of the Psychiatric Genomics Consortium and Eatint Disorders Working Grp and Institute of Neuroscience and Physiology and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Sahlgrenska Academy and Institutionen för neurovetenskap och fysiologi
The American journal of psychiatry, ISSN 0002-953X, 09/2017, Volume 174, Issue 9, pp. 850 - 858
Journal Article
by Lange, Leslie A and Hu, Youna and Zhang, He and Xue, Chenyi and Schmidt, Ellen M and Tang, Zheng-Zheng and Bizon, Chris and Lange, Ethan M and Smith, Joshua D and Turner, Emily H and Jun, Goo and Kang, Hyun Min and Peloso, Gina and Auer, Paul and Li, Kuo-ping and Flannick, Jason and Zhang, Ji and Fuchsberger, Christian and Gaulton, Kyle and Lindgren, Cecilia and Locke, Adam and Manning, Alisa and Sim, Xueling and Rivas, Manuel A and Holmen, Oddgeir L and Gottesman, Omri and Lu, Yingchang and Ruderfer, Douglas and Stahl, Eli A and Duan, Qing and Li, Yun and Durda, Peter and Jiao, Shuo and Isaacs, Aaron and Hofman, Albert and Bis, Joshua C and Correa, Adolfo and Griswold, Michael E and Jakobsdottir, Johanna and Smith, Albert V and Schreiner, Pamela J and Feitosa, Mary F and Zhang, Qunyuan and Huffman, Jennifer E and Crosby, Jacy and Wassel, Christina L and Do, Ron and Franceschini, Nora and Martin, Lisa W and Robinson, Jennifer G and Assimes, Themistocles L and Crosslin, David R and Rosenthal, Elisabeth A and Tsai, Michael and Rieder, Mark J and Farlow, Deborah N and Folsom, Aaron R and Lumley, Thomas and Fox, Ervin R and Carlson, Christopher S and Peters, Ulrike and Jackson, Rebecca D and van Duijn, Cornelia M and Uitterlinden, André G and Levy, Daniel and Rotter, Jerome I and Taylor, Herman A and Gudnason, Vilmundur and Siscovick, David S and Fornage, Myriam and Borecki, Ingrid B and Hayward, Caroline and Rudan, Igor and Chen, Y. Eugene and Bottinger, Erwin P and Loos, Ruth J.F and Sætrom, Pål and Hveem, Kristian and Boehnke, Michael and Groop, Leif and McCarthy, Mark and Meitinger, Thomas and Ballantyne, Christie M and Gabriel, Stacey B and O’Donnell, Christopher J and Post, Wendy S and North, Kari E and Reiner, Alexander P and Boerwinkle, Eric and Psaty, Bruce M and Altshuler, David and Kathiresan, Sekar and Lin, Dan-Yu and Jarvik, Gail P and Cupples, L. Adrienne and Kooperberg, Charles and Wilson, James G and Nickerson, Deborah A and Abecasis, Goncalo R and Rich, Stephen S and ... and the NHLBI Grand Opportunity Exome Sequencing Project and NHLBI Grand Opportunity Exome Sequ and NHLBI Grand Opportunity Exome Sequencing Project
American journal of human genetics, ISSN 0002-9297, 02/2014, Volume 94, Issue 2, pp. 233 - 245
Journal Article
by Marcogliese, Paul C and Shashi, Vandana and Spillmann, Rebecca C and Stong, Nicholas and Rosenfeld, Jill A and Koenig, Mary Kay and Martínez-Agosto, Julián A and Herzog, Matthew and Chen, Agnes H and Dickson, Patricia I and Lin, Henry J and Vera, Moin U and Salamon, Noriko and Graham, John M and Ortiz, Damara and Infante, Elena and Steyaert, Wouter and Dermaut, Bart and Poppe, Bruce and Chung, Hyung-Lok and Zuo, Zhongyuan and Lee, Pei-Tseng and Kanca, Oguz and Xia, Fan and Yang, Yaping and Smith, Edward C and Jasien, Joan and Kansagra, Sujay and Spiridigliozzi, Gail and El-Dairi, Mays and Lark, Robert and Riley, Kacie and Koeberl, Dwight D and Golden-Grant, Katie and Callens, Steven and Coucke, Paul and Dermaut, Bart and Hemelsoet, Dimitri and Poppe, Bruce and Steyaert, Wouter and Terryn, Wim and Van Coster, Rudy and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dillon, Ani and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Ferreira, Carlos and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and ... and Program for Undiagnosed Diseases (UD-PrOZA) and Undiagnosed Diseases Network and Undiagnosed Dis Network and Program Undiagnosed Dis UD-PrOZA
The American Journal of Human Genetics, ISSN 0002-9297, 08/2018, Volume 103, Issue 2, pp. 245 - 260
Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological... 
CG11138 | ataxia | Drosophila | neurodegeneration | seizures | C3HC4 RING finger | developmental regression | pits | EAP1 | hypotonia | RECURRENT DE-NOVO | TRANSGENESIS | PROTEIN | UNDIAGNOSED DISEASES NETWORK | GENE | GENETICS & HEREDITY | ADRENOLEUKODYSTROPHY | MUTATIONS | EXPRESSION | DROSOPHILA | Physiological aspects | Nervous system | Development and progression | Genetic aspects | Degeneration | Research | Binding proteins
Journal Article
SAE technical paper series, Volume 810410.
Preliminary design studies were performed on four continuously variable transmission (CVT) concepts for use in advanced electric vehicles. A 1700 kg (3750 lb)... 
Transmissions | Continuously variable transmissions | Flywheels | Automatic transmissions | Electric motors
eJournal
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
...Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language Lot Snijders Blok... 
DNA helicase | Neurodevelopmental disorders | Mutation
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... 
DNA helicase | Neurodevelopmental disorders | Mutation
Journal Article