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Ferroul, Fanny; Snanoudj, Sarah; Leterme, Gaelle; Mezouaghi, Kheira; Kieffer-Traversier, Marie; Celse, Tristan; Dospeux, Jessica; Huby, Thomas; Marzin, Pauline; Morel, Godelieve; Payet, Frederique; Remy, Mathilde; Sennsfelder, Laetitia; Spondenkiewicz, Marta; Roy-Doray, Berenice; Amiel, Jeanne; Pingault, Veronique; Alessandri, Jean-Luc Share Save Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variantsSerey-Gaut, Margaux; Balogoun, Ralyath; Jonard, Laurence; Lina-Granade, Genevieve; Touraine, Renaud; Willems, Marjolaine; Hepp, Nicola; Rendtorff, Nanna Dahl; Bertelsen, Mette; Loundon, Natalie; Couloigner, Vincent; Lemiere, Isabelle; de Oliveira, Judite; Romana, Serge; Porteret, Camille; Blanc, Pierre; Mansard, Luke; Marlin, Sandrine; Roux, Anne-Francoise; Pingault, Veronique Share Save Overexpression of Egr1 Transcription Regulator Contributes to Schwann Cell Differentiation Defects in Neural Crest-Specific Adar1 Knockout MiceZerad, Lisa; Gacem, Nadjet; Gayda, Fanny; Day, Lucie; Sinigaglia, Ketty; Richard, Laurence; Parisot, Melanie; Cagnard, Nicolas; Mathis, Stephane; Bole-Feysot, Christine; O'Connell, Mary A.; Pingault, Veronique; Dambroise, Emilie; Keegan, Liam P.; Vallat, Jean Michel; Bondurand, Nadege Share Save Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delayTan, Senwei; Zhang, Qiumeng; Zhan, Rui; Luo, Si; Han, Yaoling; Yu, Bin; Muss, Candace; Pingault, Veronique; Marlin, Sandrine; Delahaye, Andree; Peters, Sophia; Perne, Claudia; Kreiss, Martina; Spataro, Nino; Trujillo-Quintero, Juan Pablo; Racine, Caroline; Tran-Mau-Them, Frederic; Phornphutkul, Chanika; Besterman, Aaron D.; Martinez, Julian; Wang, Xiuxia; Tian, Xiaoyu; Srivastava, Siddharth; Urion, David K.; Madden, Jill A.; Saif, Hind Al; Morrow, Michelle M.; Begtrup, Amber; Li, Xing; Jurgensmeyer, Sarah; Leahy, Peter; Zhou, Shimin; Li, Faxiang; Hu, Zhengmao; Tan, Jieqiong; Xia, Kun; Guo, Hui Share Save Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrumPingault, Veronique; Neiva-Vaz, Cecilia; de Oliveira, Judite; Martinez-Gil, Nuria; Lasa-Aranzasti, Amaia; Campos, Berta; Lakeman, Inge M. M.; Nibbeling, Esther A. R.; Stoeva, Radka; Jayakar, Parul; Dabir, Tabib; Elloumi, Houda Zghal; Strong, Alanna; Hanein, Sylvain; Picard, Arnaud; Ochsenbein, Francoise; Blanc, Pierre; Amiel, Jeanne Share Save Spliceosome malfunction causes neurodevelopmental disorders with overlapping featuresLi, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon Share Save Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersHusson, Thomas; Lecoquierre, Francois; Nicolas, Gael; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Severine; Badens, Catherine; Bilan, Frederic; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noelle; Brischoux-Boucher, Elise; Bonnet, Celine; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogne, Benjamin; Colin, Estelle; Cormier-Daire, Valerie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-Francois; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christele; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Melanie; Garde, Aurore; Genevieve, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Ines; Heron, Delphine; Isidor, Bertrand; Lacombe, Didier; Horn, Xavier Le Guillou; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoe; Lehalle, Daphne; Lesca, Gaetan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godelieve; Jean-Marcais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amelie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quelin, Chloe; Quemener-Redon, Sylvia; Rama, Melanie; Rio, Marlene; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurelien; Van Gils, Julien; Vanlerberghe, Clemence; Vantalon, Valerie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille Share Save Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand bindingKurihara, Yukiko; Ekimoto, Toru; Gordon, Christopher T.; Uchijima, Yasunobu; Sugiyama, Ryo; Kitazawa, Taro; Iwase, Akiyasu; Kotani, Risa; Asai, Rieko; Pingault, Veronique; Ikeguchi, Mitsunori; Amiel, Jeanne; Kurihara, Hiroki Share Save Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology (vol 3, 100102, 2022)Sobering, Andrew K.; Bryant, Laura M.; Li, Dong; McGaughran, Julie; Maystadt, Isabelle; Moortgat, Stephanie; Graham, John M., Jr.; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Vogt, Julie; Morton, Jenny; Brasch-Andersen, Charlotte; Steenhof, Maria; Hansen, Lars Kjaersgaard; Adler, Elodie; Lyonnet, Stanislas; Pingault, Veronique; Sandrine, Marlin; Ziegler, Alban; Donald, Tyhiesia; Nelson, Beverly; Holt, Brandon; Petryna, Oleksandra; Firth, Helen; McWalter, Kirsty; Zyskind, Jacob; Telegrafi, Aida; Juusola, Jane; Person, Richard; Bamshad, Michael J.; Earl, Dawn; Tsai, Anne Chun-Hui; Yearwood, Katherine R.; Marco, Elysa; Nowak, Catherine; Douglas, Jessica; Hakonarson, Hakon; Bhoj, Elizabeth J. Share Save Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologySobering, Andrew K.; Bryant, Laura M.; Li, Dong; McGaughran, Julie; Maystadt, Isabelle; Moortgat, Stephanie; Graham, John M., Jr.; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Vogt, Julie; Morton, Jenny; Brasch-Andersen, Charlotte; Steenhof, Maria; Hansen, Lars Kjaersgaard; Adler, Elodie; Lyonnet, Stanislas; Pingault, Veronique; Sandrine, Marlin; Ziegler, Alban; Donald, Tyhiesia; Nelson, Beverly; Holt, Brandon; Petryna, Oleksandra; Firth, Helen; McWalter, Kirsty; Zyskind, Jacob; Telegrafi, Aida; Juusola, Jane; Person, Richard; Bamshad, Michael J.; Earl, Dawn; Tsai, Anne Chun-Hui; Yearwood, Katherine R.; Marco, Elysa; Nowak, Catherine; Douglas, Jessica; Hakonarson, Hakon; Bhoj, Elizabeth J. Share Save Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published casesVegas, Nancy; Demir, Zeynep; Gordon, Christopher T.; Breton, Sylvain; Tavares, Vanessa L. Romanelli; Moisset, Hugo; Zechi-Ceide, Roseli; Kokitsu-Nakata, Nancy M.; Kido, Yasuhiro; Marlin, Sandrine; Halem, Souad Gherbi; Meerschaut, Ilse; Callewaert, Bert; Chung, Brian; Revencu, Nicole; Lehalle, Daphne; Petit, Florence; Propst, Evan J.; Papsin, Blake C.; Phillips, John H.; Jakobsen, Linda; Le Tanno, Pauline; Thevenon, Julien; McGaughran, Julie; Gerkes, Erica H.; Leoni, Chiara; Kroisel, Peter; Tan, Tiong Y.; Henderson, Alex; Terhal, Paulien; Basel-Salmon, Lina; Alkindy, Adila; White, Susan M.; Passos-Bueno, Maria R.; Pingault, Veronique; De Pontual, Loic; Amiel, Jeanne Share Save Share Save Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clemantine; Rabionet, Raquel; Blanco-Sanchez, Bernardo; Yang, Sandra; Reijnders, Margot R. F.; van Essen, Antonie J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coeslier, Anne; Meira, Joanna; Wohler, Elizabeth; Sobreira, Nara; Beaver, Erin M.; Heeley, Jennifer; Briere, Lauren C.; High, Frances A.; Sweetser, David A.; Walker, Melissa A.; Keegan, Catherine E.; Jayakar, Parul; Shinawi, Marwan; Kerstjens-Frederikse, Wilhelmina S.; Earl, Dawn L.; Siu, Victoria M.; Reesor, Emma; Yao, Tony; Hegele, Robert A.; Vaske, Olena M.; Rego, Shannon; Shapiro, Kevin A.; Wong, Brian; Gambello, Michael J.; McDonald, Marie; Karlowicz, Danielle; Colombo, Roberto; Serretti, Alessandro; Pais, Lynn; O'Donnell-Luria, Anne; Wray, Alison; Sadedin, Simon; Chong, Belinda; Tan, Tiong Y.; Christodoulou, John; White, Susan M.; Slavotinek, Anne; Barbouth, Deborah; Swols, Dayna Morel; Parisot, Melanie; Bole-Feysot, Christine; Nitschke, Patrick; Pingault, Veronique; Munnich, Arnold; Cho, Megan T.; Cormier-Daire, Valerie; Balcells, Susanna; Lyonnet, Stanislas; Grinberg, Daniel; Amiel, Jeanne; Urreizti, Roser; Gordon, Christopher T. Share Save EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida typeThomas, Huw B.; Wood, Katherine A.; Buczek, Weronika A.; Gordon, Christopher T.; Pingault, Veronique; Attie-Bitach, Tania; Hentges, Kathryn E.; Varghese, Vinod C.; Amiel, Jeanne; Newman, William G.; O'Keefe, Raymond T. Share Save ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell developmentGacem, Nadjet; Kavo, Anthula; Zerad, Lisa; Richard, Laurence; Mathis, Stephane; Kapur, Raj P.; Parisot, Melanie; Amiel, Jeanne; Dufour, Sylvie; de la Grange, Pierre; Pingault, Veronique; Vallat, Jean Michel; Bondurand, Nadege Share Save LKB1 specifies neural crest cell fates through pyruvate-alanine cyclingRadu, Anca G.; Torch, Sakina; Fauvelle, Florence; Pernet-Gallay, Karin; Lucas, Anthony; Blervaque, Renaud; Delmas, Veronique; Schlattner, Uwe; Lafanechere, Laurence; Hainaut, Pierre; Tricaud, Nicolas; Pingault, Veronique; Bondurand, Nadege; Bardeesy, Nabeel; Larue, Lionel; Thibert, Chantal; Bilaud, Marc Share Save Share Save EDNRB mutations causeWaardenburg syndrome type II in the heterozygous stateIssa, Sarah; Bondurand, Nadege; Faubert, Emmanuelle; Poisson, Sylvain; Lecerf, Laure; Nitschke, Patrick; Deggouj, Naima; Loundon, Natalie; Jonard, Laurence; David, Albert; Sznajer, Yves; Blanchet, Patricia; Marlin, Sandrine; Pingault, Veronique Share Save 
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