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Krebs-Drouot, Lila; Schalk, Audrey; Schaefer, Elise; Keyser, Christine; Gonzalez, Angela; Calmels, Nadege; Warde, Marie-Therese Abi; Oertel, Laetitia; Acquaviva, Cecile; Mandel, Jean-Louis; Farrugia, Audrey Share Save Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndromeCourraud, Jeremie; Engel, Camille; Quartier, Angelique; Drouot, Nathalie; Houessou, Ursula; Plassard, Damien; Sorlin, Arthur; Brischoux-Boucher, Elise; Gouy, Evan; Van Maldergem, Lionel; Rossi, Massimiliano; Lesca, Gaetan; Edery, Patrick; Putoux, Audrey; Bilan, Frederic; Gilbert-Dussardier, Brigitte; Atallah, Isis; Kalscheuer, Vera M.; Mandel, Jean-Louis; Piton, Amelie Share Save GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disordersBurger, Pauline; Colin, Florent; Strehle, Axelle; Mazzucotelli, Timothee; Collot, Nicole; Coutelle, Romain; Durand, Benjamin; Bouman, Arianne; Prat, Daphna Landau; Kleefstra, Tjitske; Parrend, Pierre; Piton, Amelie; Koolen, David A.; Mandel, Jean-Louis Share Save Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome XLeitao, Elsa; Schroeder, Christopher; Parenti, Ilaria; Dalle, Carine; Rastetter, Agnes; Kuehnel, Theresa; Kuechler, Alma; Kaya, Sabine; Gerard, Benedicte; Schaefer, Elise; Nava, Caroline; Drouot, Nathalie; Engel, Camille; Piard, Juliette; Duban-Bedu, Benedicte; Villard, Laurent; Stegmann, Alexander P. A.; Vanhoutte, Els K.; Verdonschot, Job A. J.; Kaiser, Frank J.; Mau-Them, Frederic Tran; Scala, Marcello; Striano, Pasquale; Frints, Suzanna G. M.; Argilli, Emanuela; Sherr, Elliott H.; Elder, Fikret; Buratti, Julien; Keren, Boris; Mignot, Cyril; Heron, Delphine; Mandel, Jean-Louis; Gecz, Jozef; Kalscheuer, Vera M.; Horsthemke, Bernhard; Piton, Amelie; Depienne, Christel Share Save The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDACoutelle, Romain; Boedec, Morgane; Vermeulen, Karlijn; Kummeling, Joost; Koolen, David A.; Kleefstra, Tjitske; Fournier, Camille; Colin, Florent; Strehle, Axelle; Genevieve, David; Burger, Pauline; Mandel, Jean-Louis Share Save AAV-delivered diacylglycerol kinase DGKk achieves long-term rescue of fragile X syndrome mouse modelHabbas, Karima; Cakil, Oktay; Zambo, Boglarka; Tabet, Ricardos; Riet, Fabrice; Dembele, Doulaye; Mandel, Jean-Louis; Hocquemiller, Michael; Laufer, Ralph; Piguet, Francoise; Moine, Herve Share Save Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven PrioritizationSchluter, Agatha; Rodriguez-Palmero, Agusti; Verdura, Edgard; Velez-Santamaria, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas-Serra, Laura; Jose Martinez, Juan; Guilera, Cristina; Giros, Marisa; Artuch, Rafael; Yoldi, Maria Eugenia; O'Callaghan, Mar; Garcia-Cazorla, Angels; Armstrong, Judith; Marti, Itxaso; Mondragon Rezola, Elisabet; Redin, Claire; Louis Mandel, Jean; Conejo, David; Sierra-Corcoles, Concepcion; Beltran, Sergi; Gut, Marta; Vazquez, Elida; Del Toro, Mireia; Troncoso, Monica; Perez-Jurado, Luis A.; Gutierrez-Solana, Luis G.; Lopez de Munain, Adolfo; Casasnovas, Carlos; Aguilera-Albesa, Sergio; Macaya, Alfons; Pujol, Aurora Share Save Share Save Clinical practice guidelines for BRCA1 and BRCA2 genetic testingPujol, Pascal; Barberis, Massimo; Beer, Philp; Friedman, Eitan; Piulats, Josep M.; Capoluongo, Ettore D.; Foncillas, Jesus Garcia; Ray-Coquard, Isabelle; Penault-Llorca, Frederique; Foulkes, William D.; Turnbull, Clare; Hanson, Helen; Narod, Steven; Arun, Banu K.; Aapro, Matti S.; Mandel, Jean-Louis; Normanno, Nicola; Lambrechts, Diether; Vergote, Ignace; Anahory, Michele; Baertschi, Bernard; Baudry, Karen; Bignon, Yves-Jean; Bollet, Marc; Corsini, Carole; Cussenot, Olivier; Rouge, Thibault De la Motte; de Labarre, Marie Duboys; Duchamp, Florence; Duriez, Clarisse; Fizazi, Karim; Galibert, Virginie; Gladieff, Laurence; Gligorov, Joseph; Hammel, Pascal; Imbert-Bouteille, Marion; Jacot, William; Kogut-Kubiak, Tatiana; Lamy, Pierre-Jean; Nambot, Sophie; Neuzillet, Yann; Olschwang, Sylviane; Rebillard, Xavier; Rey, Jean-Marc; Rideau, Chloe; Spano, Jean-Philippe; Thomas, Frederic; Treilleux, Isabelle; Vandromme, Marion; Vendrell, Julie; Vintraud, Michele; Zarca, Daniel; Hughes, Kevin S.; Ales Martinez, Jose E. Share Save Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlationsLefebvre, Mathilde; Bruel, Ange-Line; Tisserant, Emilie; Bourgon, Nicolas; Duffourd, Yannis; Collardeau-Frachon, Sophie; Attie-Bitach, Tania; Kuentz, Paul; Assoum, Mirna; Schaefer, Elise; Chehadeh, Salima El; Antal, Maria Cristina; Kremer, Valerie; Girard-Lemaitre, Francoise; Mandel, Jean-Louis; Lehalle, Daphne; Nambot, Sophie; Jean-Marcais, Nolwenn; Houcinat, Nada; Moutton, Sebastien; Marle, Nathalie; Lambert, Laetita; Jonveaux, Philippe; Foliguet, Bernard; Mazutti, Jean-Pierre; Gaillard, Dominique; Alanio, Elisabeth; Poirisier, Celine; Lebre, Anne-Sophie; Aubert-Lenoir, Marion; Arbez-Gindre, Francine; Odent, Sylvie; Quelin, Chloe; Loget, Philippe; Fradin, Melanie; Willems, Marjolaine; Bigi, Nicole; Perez, Marie-Jose; Blesson, Sophie; Francannet, Christine; Beaufrere, Anne-Marie; Patrier-Sallebert, Sophie; Guerrot, Anne-Marie; Goldenberg, Alice; Brehin, Anne-Claire; Lespinasse, James; Touraine, Renaud; Capri, Yline; Saint-Frison, Marie-Helene; Laurent, Nicole; Philippe, Christophe; Mau-Them, Frederic Tran; Thevenon, Julien; Faivre, Laurence; Thauvin-Robinet, Christel; Vitobello, Antonio Share Save Spatial control of nucleoporin condensation by fragile X-related proteinsAgote-Aran, Arantxa; Schmucker, Stephane; Jerabkova, Katerina; Boyer, Ines Jmel; Berto, Alessandro; Pacini, Laura; Ronchi, Paolo; Kleiss, Charlotte; Guerard, Laurent; Schwab, Yannick; Moine, Herve; Mandel, Jean-Louis; Jacquemont, Sebastien; Bagni, Claudia; Sumara, Izabela 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 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 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 Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disabilityMattioli, Francesca; Isidor, Bertrand; Abdul-Rahman, Omar; Gunter, Andrew; Huang, Lijia; Kumar, Raman; Beaulieu, Chandree; Gecz, Jozef; Innes, Micheil; Mandel, Jean-Louis; Piton, Amelie Share Save Sex-specific impact of prenatal androgens on social brain default mode subsystemsLombardo, Michael, V; Auyeung, Bonnie; Pramparo, Tiziano; Quartier, Angelique; Courraud, Jeremie; Holt, Rosemary J.; Waldman, Jack; Ruigrok, Amber N., V; Mooney, Natasha; Bethlehem, Richard A., I; Lai, Meng-Chuan; Kundu, Prantik; Bullmore, Edward T.; Mandel, Jean-Louis; Piton, Amelie; Baron-Cohen, Simon Share Save Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum DisorderQuartier, Angelique; Chatrousse, Laure; Redin, Claire; Keime, Celine; Haumesser, Nicolas; Maglott-Roth, Anne; Brino, Laurent; Le Gras, Stephanie; Benchoua, Alexandra; Mandel, Jean-Louis; Piton, Amelie Share Save Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosisMary, Laura; Piton, Amelie; Schaefer, Elise; Mattioli, Francesca; Nourisson, Elsa; Feger, Claire; Redin, Claire; Barth, Magali; El Chehadeh, Salima; Colin, Estelle; Coubes, Christine; Faivre, Laurence; Flori, Elisabeth; Genevieve, David; Capri, Yline; Perrin, Laurence; Fabre-Teste, Jennifer; Timbolschi, Dana; Verloes, Alain; Olaso, Robert; Boland, Anne; Deleuze, Jean-Francois; Mandel, Jean-Louis; Gerard, Benedicte; Giurgea, Irina Share Save 
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