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Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum Verbinnen, Iris; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J.; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X.; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M.; Foss, Kimberly; Dobyns, William; White, Susan M.; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A.; van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J.; Ruiz, Anna; Quintero, Juan Pablo Trujillo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K.; Weisenberg, Judith L.; Haack, Tobias B.; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Heus, Karen G. C. B. Bindels de; Wit, Marie-Claire Y. de; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca C.; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M.; Houge, Gunnar Douzgos; Janssens, Veerle Share Save
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment Dubail, Johanne; Rondeau, Sophie; Michot, Caroline; Baujat, Genevieve; Capri, Yline; Thevenon, Julien; Charpie, Maelle; Pejin, Zagorka; Phan, Gilles; Huber, Celine; Cormier-Daire, Valerie Share Save
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases Racine, Caroline; Denomme-Pichon, Anne-Sophie; Engel, Camille; Mau-them, Frederic Tran; Bruel, Ange-Line; Vitobello, Antonio; Safraou, Hana; Sorlin, Arthur; Nambot, Sophie; Delanne, Julian; Garde, Aurore; Colin, Estelle; Moutton, Sebastien; Thevenon, Julien; Jean-Marcais, Nolwenn; Willems, Marjolaine; Genevieve, David; Pinson, Lucile; Perrin, Laurence; Laffargue, Fanny; Lespinasse, James; Lacaze, Elodie; Molin, Arnaud; Gerard, Marion; Lambert, Laetitia; Benigni, Charlotte; Patat, Olivier; Bourgeois, Valentin; Poe, Charlotte; Chevarin, Martin; Couturier, Victor; Garret, Philippine; Philippe, Christophe; Duffourd, Yannis; Faivre, Laurence; Thauvin-Robinet, Christel Share Save
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features Liu, Zhigang; Xin, Baozhong; Smith, Iris N.; Sency, Valerie; Szekely, Julia; Alkelai, Anna; Shuldiner, Alan; Efthymiou, Stephanie; Rajabi, Farrah; Coury, Stephanie; Brownstein, Catherine A.; Rudnik-Schoeneborn, Sabine; Bruel, Ange-Line; Thevenon, Julien; Zeidler, Shimriet; Jayakar, Parul; Schmidt, Axel; Cremer, Kirsten; Engels, Hartmut; Peters, Sophia O.; Zaki, Maha S.; Duan, Ruizhi; Zhu, Changlian; Xu, Yiran; Gao, Chao; Sepulveda-Morales, Tania; Maroofian, Reza; Alkhawaja, Issam A.; Khawaja, Mariam; Alhalasah, Hunaida; Houlden, Henry; Madden, Jill A.; Turchetti, Valentina; Marafi, Dana; Agrawal, Pankaj B.; Schatz, Ulrich; Rotenberg, Ari; Rotenberg, Joshua; Mancini, Grazia M. S.; Bakhtiari, Somayeh; Kruer, Michael; Thiffault, Isabelle; Hirsch, Steffen; Hempel, Maja; Stuehn, Lara G.; Haack, Tobias B.; Posey, Jennifer E.; Lupski, James R.; Lee, Hyunpil; Sarn, Nicholas B.; Eng, Charis; Gonzaga-Jauregui, Claudia; Zhang, Bin; Wang, Heng Share Save
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease Calame, Daniel G.; Guo, Tianyu; Wang, Chen; Garrett, Lillian; Jolly, Angad; Dawood, Moez; Kurolap, Alina; Henig, Noa Zunz; Fatih, Jawid M.; Herman, Isabella; Du, Haowei; Mitani, Tadahiro; Becker, Lore; Rathkolb, Birgit; Gerlini, Raffaele; Seisenberger, Claudia; Marschall, Susan; Hunter, Jill, V; Gerard, Amanda; Heidlebaugh, Alexis; Challman, Thomas; Spillmann, Rebecca C.; Jhangiani, Shalini N.; Coban-Akdemir, Zeynep; Lalani, Seema; Liu, Lingxiao; Revah-Politi, Anya; Iglesias, Alejandro; Guzman, Edwin; Baugh, Evan; Boddaert, Nathalie; Rondeau, Sophie; Ormieres, Clothide; Barcia, Giulia; Tan, Queenie K. G.; Thiffault, Sophie Isabelle; Pastinen, Tomi; Sheikh, Kazim; Biliciler, Suur; Mei, Davide; Melani, Federico; Shashi, Vandana; Yaron, Yuval; Steele, Mary; Wakeling, Emma; Ostergaard, Elsebet; Nazaryan-Petersen, Lusine; Millan, Francisca; Santiago-Sim, Teresa; Thevenon, Julien; Bruel, Ange-Line; Thauvin-Robinet, Christel; Popp, Denny; Platzer, Konrad; Gawlinski, Pawel; Wiszniewski, Wojciech; Marafi, Dana; Pehlivan, Davut; Posey, Jennifer E.; Gibbs, Richard A.; Gailus-Durner, Valerie; Guerrini, Renzo; Fuchs, Helmut; de Angelis, Martin Hrabe; Hoelter, Sabine M.; Cheung, Hoi-Hung; Gu, Shen; Lupski, James R. Share Save
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing Denomme-Pichon, Anne-Sophie; Matalonga, Leslie; de Boer, Elke; Jackson, Adam; Benetti, Elisa; Banka, Siddharth; Bruel, Ange-Line; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Duffourd, Yannis; Ellwanger, Kornelia; Fallerini, Chiara; Gilissen, Christian; Graessner, Holm; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jean-Marcais, Nolwenn; Kleefstra, Tjitske; Lopez-Martin, Estrella; Macek, Milan, Jr.; Mencarelli, Maria Antonietta; Moutton, Sebastien; Pfundt, Rolph; Pizzi, Simone; Posada, Manuel; Radio, Francesca Clementina; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Safraou, Hana; Schwarz, Martin; Tartaglia, Marco; Thauvin-Robinet, Christel; Thevenon, Julien; Mau-Them, Frederic Tran; Trimouille, Aurelien; Votypka, Pavel; Vries, Bert B. A. de; Willemsen, Marjolein H.; Zurek, Birte; Verloes, Alain; Philippe, Christophe; Vitobello, Antonio; Vissers, Lisenka E. L. M.; Faivre, Laurence Share Save
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing Levaillant, Lucie; Bouhours-Nouet, Natacha; Illouz, Frederic; Jager, Jessica Amsellem; Bachelot, Anne; Barat, Pascal; Baron, Sabine; Bensignor, Candace; de la Perriere, Aude Brac; Djellas, Yasmine Braik; Caillot, Morgane; Caldagues, Emmanuelle; Campas, Marie-Neige; Caquard, Marylene; Cartault, Audrey; Cheignon, Julie; Decrequy, Anne; Delemer, Brigitte; Dieckmann, Katherine; Donzeau, Aurelie; Doye, Emilie; Fradin, Melanie; Gaudilliere, Melanie; Gatelais, Frederique; Gorce, Magali; Hazart, Isabelle; Houcinat, Nada; Houdon, Laure; Ister-Salome, Marielle; Jozwiak, Lucie; Jeannoel, Patrick; Labarthe, Francois; Lacombe, Didier; Lambert, Anne-Sophie; Lefevre, Christine; Leheup, Bruno; Leroy, Clara; Maisonneuve, Benedicte; Marchand, Isis; Marquant, Emeline; Muszlak, Matthias; Pantalone, Letitia; Pochelu, Sandra; Quelin, Chloe; Radet, Catherine; Renoult-Pierre, Peggy; Reynaud, Rachel; Rouleau, Stephanie; Teinturier, Cecile; Thevenon, Julien; Turlotte, Caroline; Valle, Aline; Vierge, Melody; Villanueva, Carine; Ziegler, Alban; Dieu, Xavier; Bouzamondo, Nathalie; Rodien, Patrice; Prunier-Mirebeau, Delphine; Coutant, Regis Share Save
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases Testard, Quentin; Vanhoye, Xavier; Yauy, Kevin; Naud, Marie-Emmanuelle; Vieville, Gaelle; Rousseau, Francis; Dauriat, Benjamin; Marquet, Valentine; Bourthoumieu, Sylvie; Genevieve, David; Gatinois, Vincent; Wells, Constance; Willems, Marjolaine; Coubes, Christine; Pinson, Lucile; Dard, Rodolphe; Tessier, Aude; Herve, Berenice; Vialard, Francois; Harzallah, Ines; Touraine, Renaud; Cogne, Benjamin; Deb, Wallid; Besnard, Thomas; Pichon, Olivier; Laudier, Beatrice; Mesnard, Laurent; Doreille, Alice; Busa, Tiffany; Missirian, Chantal; Satre, Veronique; Coutton, Charles; Celse, Tristan; Harbuz, Radu; Raymond, Laure; Taly, Jean-Francois; Thevenon, Julien Share Save
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine Yauy, Kevin; Lecoquierre, Francois; Baert-Desurmont, Stephanie; Trost, Detlef; Boughalem, Aicha; Luscan, Armelle; Costa, Jean-Marc; Geromel, Vanna; Raymond, Laure; Richard, Pascale; Coutant, Sophie; Broutin, Melanie; Lanos, Raphael; Fort, Quentin; Cackowski, Stenzel; Testard, Quentin; Diallo, Abdoulaye; Soirat, Nicolas; Holder, Jean-Marc; Duforet-Frebourg, Nicolas; Bouge, Anne-Laure; Beaumeunier, Sacha; Bertrand, Denis; Audoux, Jerome; Genevieve, David; Mesnard, Laurent; Nicolas, Gael; Thevenon, Julien; Philippe, Nicolas Share Save
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis? Bourgon, Nicolas; Garde, Aurore; Bruel, Ange-Line; Lefebvre, Mathilde; Mau-Them, Frederic Tran; Moutton, Sebastien; Sorlin, Arthur; Nambot, Sophie; Delanne, Julian; Chevarin, Martin; Poe, Charlotte; Thevenon, Julien; Lehalle, Daphne; Jean-Marcais, Nolween; Kuentz, Paul; Lambert, Laetitia; El Chehadeh, Salima; Schaefer, Elise; Willems, Marjolaine; Laffargue, Fanny; Francannet, Christine; Fradin, Melanie; Gaillard, Dominique; Blesson, Sophie; Goldenberg, Alice; Capri, Yline; Sagot, Paul; Rousseau, Thierry; Simon, Emmanuel; Binquet, Christine; Ascencio, Marie-Laure; Duffourd, Yannis; Philippe, Christophe; Faivre, Laurence; Vitobello, Antonio; Thauvin-Robinet, Christel Share Save
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases Vegas, 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
PIGN encephalopathy: Characterizing the epileptology Bayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. Share Save
GM3 synthase deficiency in non-Amish patients Heide, Solveig; Jacquemont, Marie-Line; Cheillan, David; Renouil, Michel; Tallot, Marilyn; Schwartz, Charles E.; Miquel, Juliette; Bintner, Marc; Rodriguez, Diana; Darcel, Francoise; Buratti, Julien; Haye, Damien; Passemard, Sandrine; Gras, Domitille; Perrin, Laurence; Capri, Yline; Gerard, Benedicte; Piton, Amelie; Keren, Boris; Thauvin-Robinet, Christel; Duffourd, Yannis; Faivre, Laurence; Poe, Charlotte; Perville, Anne; Heron, Delphine; Thevenon, Julien; Arnaud, Lionel; LeGuern, Eric; La Selva, Lorita; Vetro, Annalisa; Guerrini, Renzo; Nava, Caroline; Mignot, Cyril Share Save
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder Courraud, Jeremie; Chater-Diehl, Eric; Durand, Benjamin; Vincent, Marie; del Mar Muniz Moreno, Maria; Boujelbene, Imene; Drouot, Nathalie; Genschik, Loreline; Schaefer, Elise; Nizon, Mathilde; Gerard, Benedicte; Abramowicz, Marc; Cogne, Benjamin; Bronicki, Lucas; Burglen, Lydie; Barth, Magalie; Charles, Perrine; Colin, Estelle; Coubes, Christine; David, Albert; Delobel, Bruno; Demurger, Florence; Passemard, Sandrine; Denomme, Anne-Sophie; Faivre, Laurence; Feger, Claire; Fradin, Melanie; Francannet, Christine; Genevieve, David; Goldenberg, Alice; Guerrot, Anne-Marie; Isidor, Bertrand; Johannesen, Katrine M.; Keren, Boris; Kibaek, Maria; Kuentz, Paul; Mathieu-Dramard, Michele; Demeer, Benedicte; Metreau, Julia; Steensbjerre Moller, Rikke; Moutton, Sebastien; Pasquier, Laurent; Pilekaer Sorensen, Kristina; Perrin, Laurence; Renaud, Mathilde; Saugier, Pascale; Rio, Marlene; Svane, Joane; Thevenon, Julien; Tran Mau Them, Frederic; Tronhjem, Cathrine Elisabeth; Vitobello, Antonio; Layet, Valerie; Auvin, Stephane; Khachnaoui, Khaoula; Birling, Marie-Christine; Drunat, Severine; Bayat, Allan; Dubourg, Christele; El Chehadeh, Salima; Fagerberg, Christina; Mignot, Cyril; Guipponi, Michel; Bienvenu, Thierry; Herault, Yann; Thompson, Julie; Willems, Marjolaine; Mandel, Jean-Louis; Weksberg, Rosanna; Piton, Amelie Share Save
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever Ravel, Jean-Marie; Dreumont, Natacha; Mosca, Pauline; Smith, Desiree E. C.; Mendes, Marisa, I; Wiedemann, Arnaud; Coelho, David; Schmitt, Emmanuelle; Riviere, Jean-Baptiste; Mau-Them, Frederic Tran; Thevenon, Julien; Kuentz, Paul; Polivka, Marc; Fuchs, Sabine A.; Kok, Gautam; Thauvin-Robinet, Christel; Gueant, Jean-Louis; Salomons, Gajja S.; Faivre, Laurence; Feillet, Francois Share Save
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders Mochel, Fanny; Rastetter, Agnes; Ceulemans, Berten; Platzer, Konrad; Yang, Sandra; Shinde, Deepali N.; Helbig, Katherine L.; Lopergolo, Diego; Mari, Francesca; Renieri, Alessandra; Benetti, Elisa; Canitano, Roberto; Waisfisz, Quinten; Plomp, Astrid S.; Huisman, Sylvia A.; Wilson, Golder N.; Cathey, Sara S.; Louie, Raymond J.; Del Gaudio, Daniela; Waggoner, Darrel; Kacker, Shawn; Nugent, Kimberly M.; Roeder, Elizabeth R.; Bruel, Ange-Line; Thevenon, Julien; Ehmke, Nadja; Horn, Denise; Holtgrewe, Manuel; Kaiser, Frank J.; Kamphausen, Susanne B.; Abou Jamra, Rami; Weckhuysen, Sarah; Dalle, Carine; Depienne, Christel Share Save
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy Liu, Hui; Giguet-Valard, Anna-Gaelle; Simonet, Thomas; Szenker-Ravi, Emmanuelle; Lambert, Laetitia; Vincent-Delorme, Catherine; Scheidecker, Sophie; Fradin, Melanie; Morice-Picard, Fanny; Naudion, Sophie; Ciorna-Monferrato, Viorica; Colin, Estelle; Fellmann, Florence; Blesson, Sophie; Jouk, Pierre-Simon; Francannet, Christine; Petit, Florence; Moutton, Sebastien; Lehalle, Daphne; Chassaing, Nicolas; El Zein, Loubna; Bazin, Anne; Beneteau, Claire; Attie-Bitach, Tania; Hanu, Sylvie M.; Brechard, Marie-Pierre; Chiesa, Jean; Pasquier, Laurent; Rooryck-Thambo, Caroline; Van Maldergem, Lionel; Cabrol, Christelle; El Chehadeh, Salima; Vasiljevic, Alexandre; Isidor, Bertrand; Abel, Carine; Thevenon, Julien; Di Filippo, Sylvie; Vigouroux-Castera, Adeline; Attia, Jocelyne; Quelin, Chloe; Odent, Sylvie; Piard, Juliette; Giuliano, Fabienne; Putoux, Audrey; Khau Van Kien, Philippe; Yardin, Catherine; Touraine, Renaud; Reversade, Bruno; Bouvagnet, Patrice Share Save
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