Not logged inLarge-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models
Meziane, Hamid; Birling, Marie-Christine; Wendling, Olivia; Leblanc, Sophie; Dubos, Aline; Selloum, Mohammed; Pavlovic, Guillaume; Sorg, Tania; Kalscheuer, Vera M.; Billuart, Pierre; Laumonnier, Frederic; Chelly, Jamel; van Bokhoven, Hans; Herault, Yann .png)
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SaveHighlighting the Dystonic Phenotype Related to GNAO1Wirth, Thomas; Garone, Giacomo; Kurian, Manju A.; Piton, Amelie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; Rudolf, Gabrielle; Chelly, Jamel; Marks, Warren; Burglen, Lydie; Demailly, Diane; Coubes, Phillipe; Castro-Jimenez, Mayte; Joriot, Sylvie; Ghoumid, Jamal; Belin, Jeremie; Faucheux, Jean-Marc; Blumkin, Lubov; Hull, Mariam; Parnes, Mered; Ravelli, Claudia; Poulen, Gaetan; Calmels, Nadege; Nemeth, Andrea H.; Smith, Martin; Barnicoat, Angela; Ewenczyk, Claire; Meneret, Aurelie; Roze, Emmanuel; Keren, Boris; Mignot, Cyril; Beroud, Christophe; Acosta, Fernando, Jr.; Nowak, Catherine; Wilson, William G.; Steel, Dora; Capuano, Alessandro; Vidailhet, Marie; Lin, Jean-Pierre; Tranchant, Christine; Cif, Laura; Doummar, Diane; Anheim, Mathieu Share Save De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic DyskinesiaWirth, Thomas; Meneret, Aurelie; Drouot, Nathalie; Rudolf, Gabrielle; Lagha Boukbiza, Ouhaid; Chelly, Jamel; Tranchant, Christine; Piton, Amelie; Roze, Emmanuel; Anheim, Mathieu Share Save Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical developmentRomero, Delfina M.; Poirier, Karine; Belvindrah, Richard; Moutkine, Imane; Houllier, Anne; Lemoing, Anne-Gaelle; Petit, Florence; Boland, Anne; Collins, Stephan C.; Soiza-Reilly, Mariano; Yalcin, Binnaz; Chelly, Jamel; Deleuze, Jean-Francois; Bahi-Buisson, Nadia; Francis, Fiona Share Save Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2BBrock, Stefanie; Laquerriere, Annie; Marguet, Florent; Myers, Scott J.; Hongjie, Yuan; Baralle, Diana; Vanderhasselt, Tim; Stouffs, Katrien; Keymolen, Kathelijn; Kim, Sukhan; Allen, James; Shaulsky, Gil; Chelly, Jamel; Marcorelle, Pascale; Aziza, Jacqueline; Villard, Laurent; Sacaze, Elise; de Wit, Marie C. Y.; Wilke, Martina; Mancini, Grazia Maria Simonetta; Hehr, Ute; Lim, Derek; Mansour, Sahar; Traynelis, Stephen F.; Beneteau, Claire; Denis-Musquer, Marie; Jansen, Anna C.; Fry, Andrew E.; Bahi-Buisson, Nadia Share Save Reply to PPP2R5D Genetic Mutations and Early Onset ParkinsonismKim, Christine Y.; Wirth, Thomas; Hubsch, Cecile; Nemeth, Andrea H.; Okur, Volkan; Anheim, Mathieu; Drouot, Nathalie; Tranchant, Christine; Rudolf, Gabrielle; Chelly, Jamel; Tatton-Brown, Katrina; Blauwendraat, Cornelis; Vonsattel, Jean Paul G.; Cortes, Etty; Alcalay, Roy N.; Chung, Wendy K. Share Save Early-Onset Parkinsonism Is a Manifestation of thePPP2R5Dp.E200KMutationKim, Christine Y.; Wirth, Thomas; Hubsch, Cecile; Nemeth, Andrea H.; Okur, Volkan; Anheim, Mathieu; Drouot, Nathalie; Tranchant, Christine; Rudolf, Gabrielle; Chelly, Jamel; Tatton-Brown, Katrina; Blauwendraat, Cornelis; Vonsattel, Jean Paul G.; Cortes, Etty; Alcalay, Roy N.; Chung, Wendy K. Share Save Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesiaDoummar, Diane; Dentel, Christel; Lyautey, Romane; Metreau, Julia; Keren, Boris; Drouot, Nathalie; Malherbe, Ludivine; Bouilleret, Viviane; Courraud, Jeremie; Valenti-Hirsch, Maria Paola; Minotti, Lorella; Dozieres-Puyravel, Blandine; Baer, Severine; Scholly, Julia; Schaefer, Elise; Nava, Caroline; Wirth, Thomas; Nasser, Hala; de Salins, Marie; de Saint Martin, Anne; Warde, Marie Therese Abi; Kahane, Philippe; Hirsch, Edouard; Anheim, Mathieu; Friant, Sylvie; Chelly, Jamel; Mignot, Cyril; Rudolf, Gabrielle Share Save Increased diagnostic yield in complex dystonia through exome sequencingWirth, Thomas; Tranchant, Christine; Drouot, Nathalie; Keren, Boris; Mignot, Cyril; Cif, Laura; Lefaucheur, Romain; Lion-Francois, Laurence; Meneret, Aurelie; Gras, Domitille; Roze, Emmanuel; Laroche, Cecile; Burbaud, Pierre; Bannier, Stephanie; Lagha-Boukbiza, Ouhaid; Spitz, Marie-Aude; Laugel, Vincent; Bereau, Matthieu; Ollivier, Emmanuelle; Nitschke, Patrick; Doummar, Diane; Rudolf, Gabrielle; Anheim, Mathieu; Chelly, Jamel Share Save De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental DisorderMattioli, Francesca; Hayot, Gaelle; Drouot, Nathalie; Isidor, Bertrand; Courraud, Jeremie; Hinckelmann, Maria-Victoria; Mau-Them, Frederic Tran; Sellier, Chantal; Goldman, Alica; Telegrafi, Aida; Boughton, Alicia; Gamble, Candace; Moutton, Sebastien; Quartier, Angelique; Jean, Nolwenn; Van Ness, Paul; Grotto, Sarah; Nambot, Sophie; Douglas, Ganka; Si, Yue Cindy; Chelly, Jamel; Shad, Zohra; Kaplan, Elisabeth; Dineen, Richard; Golzio, Christelle; Charlet-Berguerand, Nicolas; Mandel, Jean-Louis; Piton, Amelie Share Save Loss-of-function mutations in NR4A2 cause dopa-responsive dystonia ParkinsonismWirth, Thomas; Mariani, Louise Laure; Bergant, Gaber; Baulac, Michel; Habert, Marie-Odile; Drouot, Nathalie; Ollivier, Emmanuelle; Hodzic, Alenka; Rudolf, Gorazd; Nitschke, Patrick; Rudolf, Gabrielle; Chelly, Jamel; Tranchant, Christine; Anheim, Mathieu; Roze, Emmanuel Share Save Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogenyGilet, Johan G.; Ivanova, Ekaterina L.; Trofimova, Daria; Rudolf, Gabrielle; Meziane, Hamid; Broix, Loic; Drouot, Nathalie; Courraud, Jeremie; Skory, Valerie; Voulleminot, Paul; Osipenko, Maria; Bahi-Buisson, Nadia; Yalcin, Binnaz; Birling, Marie-Christine; Hinckelmann, Maria-Victoria; Kwok, Benjamin H.; Allingham, John S.; Chelly, Jamel Share Save ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder (vol 104, pg 319, 2019)Carapito, Raphael; Ivanova, Ekaterina L.; Morlon, Aurore; Meng, Linyan; Molitor, Anne; Erdmann, Eva; Kieffer, Bruno; Pichot, Angelique; Naegely, Lydie; Kolmer, Aline; Paul, NicodeMe; Hanauer, Antoine; Mau-Them, Frederic Tran; Jean-Marcais, Nolwenn; Hiatt, Susan M.; Cooper, Gregory M.; Tvrdik, Tatiana; Muir, Alison M.; Dimartino, Clemantine; Chopra, Maya; Amiel, Jeanne; Gordon, Christopher T.; Dutreux, Fabien; Garde, Aurore; Thauvin-Robinet, Christel; Wang, Xia; Leduc, Magalie S.; Phillips, Meredith; Crawford, Heather P.; Kukolich, Mary K.; Hunt, David; Harrison, Victoria; Kharbanda, Mira; Smigiel, Robert; Gold, Nina; Hung, Christina Y.; Viskochil, David H.; Dugan, Sarah L.; Bayrak-Toydemir, Pinar; Joly-Helas, Geraldine; Guerrot, Anne-Marie; Schluth-Bolard, Caroline; Rio, Marlene; Wentzensen, Ingrid M.; McWalter, Kirsty; Schnur, Rhonda E.; Lewis, Andrea M.; Lalani, Seema R.; Mensah-Bonsu, Noel; Ceraline, Jocelyn; Sun, Zijie; Ploski, Rafal; Bacino, Carlos A.; Mefford, Heather C.; Faivre, Laurence; Bodamer, Olaf; Chelly, Jamel; Isidor, Bertrand; Bahram, Seiamak Share Save MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsisMak, Christopher C. Y.; Doherty, Dan; Lin, Angela E.; Vegas, Nancy; Cho, Megan T.; Viot, Geraldine; Dimartino, Clemantine; Weisfeld-Adams, James D.; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A.; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G.; Lee, Youngha; Ishak, Gisele E.; Leung, Gordon; Pritchard, Amanda Barone; Yang, Sandra; Bend, Eric G.; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G.; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J. V.; Henderson, Lindsay B.; McGowan, Ruth; Wentzensen, Ingrid M.; Pei, Steven; Zahir, Farah R.; Yu, Mullin; Gibson, William T.; Seman, Ann; Steeves, Marcie; Murrell, Jill R.; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M.; Amlie-Wolf, Louise; Kaindl, Angela M.; Wilson, William G.; Halbach, Sara; Basel-Salmon, Lina; Lev-El, Noa; Denecke, Jonas; Vissers, Lisenka E. L. M.; Radtke, Kelly; Chelly, Jamel; Zackai, Elaine; Friedman, Jan M.; Bamshad, Michael J.; Nickerson, Deborah A.; Reid, Russell R.; Devriendt, Koenraad; Chae, Jong-Hee; Stolerman, Elliot; McDougall, Carey; Powis, Zoe; Bienvenu, Thierry; Tan, Tiong Y.; Orenstein, Naama; Dobyns, William B.; Shieh, Joseph T.; Choi, Murim; Waggoner, Darrel; Gripp, Karen W.; Parker, Michael J.; Stoler, Joan; Lyonnet, Stanislas; Cormier-Daire, Valerie; Viskochil, David; Hoffman, Trevor L.; Amiel, Jeanne; Chung, Brian H. Y.; Gordon, Christopher T. Share Save Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureBar, Claire; Barcia, Giulia; Jennesson, Melanie; Le Guyader, Gwenael; Schneider, Amy; Mignot, Cyril; Lesca, Gaetan; Breuillard, Delphine; Montomoli, Martino; Keren, Boris; Doummar, Diane; de Villemeur, Thierry Billette; Afenjar, Alexandra; Marey, Isabelle; Gerard, Marion; Isnard, Herve; Poisson, Alice; Dupont, Sophie; Berquin, Patrick; Meyer, Pierre; Genevieve, David; De Saint Martin, Anne; El Chehadeh, Salima; Chelly, Jamel; Guet, Agnes; Scalais, Emmanuel; Dorison, Nathalie; Myers, Candace T.; Mefford, Heather C.; Howell, Katherine B.; Marini, Carla; Freeman, Jeremy L.; Nica, Anca; Terrone, Gaetano; Sekhara, Tayeb; Lebre, Anne-Sophie; Odent, Sylvie; Sadleir, Lynette G.; Munnich, Arnold; Guerrini, Renzo; Scheffer, Ingrid E.; Kabashi, Edor; Nabbout, Rima Share Save Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA DysregulationBalak, Chris; Benard, Marianne; Schaefer, Elise; Iqbal, Sumaiya; Ramsey, Keri; Ernoult-Lange, Michele; Mattioli, Francesca; Llaci, Lorida; Geoffroy, Veronique; Courel, Maite; Naymik, Marcus; Bachman, Kristine K.; Pfundt, Rolph; Rump, Patrick; ter Beest, Johanna; Wentzensen, Ingrid M.; Monaghan, Kristin G.; McWalter, Kirsty; Richholt, Ryan; Le Bechec, Antony; Jepsen, Wayne; De Both, Matt; Belnap, Newell; Boland, Anne; Piras, Ignazio S.; Deleuze, Jean-Francois; Szelinger, Szabolcs; Dollfus, Helene; Chelly, Jamel; Muller, Jean; Campbell, Arthur; Lal, Dennis; Rangasamy, Sampathkumar; Mandel, Jean-Louis; Narayanan, Vinodh; Huentelman, Matt; Weil, Dominique; Piton, Amelie Share Save Share Save The landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2019)Baldassari, Sara; Picard, Fabienne; Verbeek, Nienke E.; van Kempen, Marjan; Brilstra, Eva H.; Lesca, Gaetan; Conti, Valerio; Guerrini, Renzo; Bisulli, Francesca; Licchetta, Laura; Pippucci, Tommaso; Tinuper, Paolo; Hirsch, Edouard; de Saint Martin, Anne; Chelly, Jamel; Rudolf, Gabrielle; Chipaux, Mathilde; Ferrand-Sorbets, Sarah; Dorfmuller, Georg; Sisodiya, Sanjay; Balestrini, Simona; Schoeler, Natasha; Hernandez-Hernandez, Laura; Krithika, S.; Oegema, Renske; Hagebeuk, Eveline; Gunning, Boudewijn; Deckers, Charles; Berghuis, Bianca; Wegner, Ilse; Niks, Erik H.; Jansen, Floor E.; Braun, Kees; de Jong, Danielle; Rubboli, Guido; Talvik, Inga; Sander, Valentin; Uldall, Peter; Jacquemont, Marie-Line; Nava, Caroline; Leguern, Eric; Julia, Sophie; Gambardella, Antonio; d'Orsi, Giuseppe; Crichiutti, Giovanni; Faivre, Laurence; Darmency, Veronique; Benova, Barbora; Krsek, Pavel; Biraben, Arnaud; Lebre, Anne-Sophie; Jennesson, Melanie; Sattar, Shifteh; Marchal, Cecile; Nordli, Douglas R., Jr.; Lindstrom, Kristin; Striano, Pasquale; Lomax, Lysa Boisse; Kiss, Courtney; Bartolomei, Fabrice; Lepine, Anne Fabienne; Schoonjans, An-Sofie; Stouffs, Katrien; Jansen, Anna; Panagiotakaki, Eleni; Ricard-Mousnier, Brigitte; Thevenon, Julien; de Bellescize, Julitta; Catenoix, Helene; Dorn, Thomas; Zenker, Martin; Muller-Schluter, Karen; Brandt, Christian; Krey, Ilona; Polster, Tilman; Wolff, Markus; Balci, Meral; Rostasy, Kevin; Achaz, Guillaume; Zacher, Pia; Becher, Thomas; Cloppenborg, Thomas; Yuskaitis, Christopher J.; Weckhuysen, Sarah; Poduri, Annapurna; Lemke, Johannes R.; Moller, Rikke S.; Baulac, Stephanie Share Save Share Save Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairmentQuartier, Angelique; Courraud, Jeremie; Thuong Thi Ha; McGillivray, George; Isidor, Bertrand; Rose, Katherine; Drouot, Nathalie; Savidan, Marie-Armel; Feger, Claire; Jagline, Helene; Chelly, Jamel; Shaw, Marie; Laumonnier, Frederic; Gecz, Jozef; Mandel, Jean-Louis; Piton, Amelie Share Save 
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