Not logged in Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders Husson, 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
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
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant Aerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde Share Save
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huet anomaly Thomas, Quentin; Motta, Marialetizia; Gautier, Thierry; Zaki, Maha S.; Ciolfi, Andrea; Paccaud, Julien; Girodon, Francois; Boespflug-Tanguy, Odile; Besnard, Thomas; Kerkhof, Jennifer; McConkey, Haley; Masson, Aymeric; Denomme-Pichon, Anne-Sophie; Cogne, Benjamin; Trochu, Eva; Vignard, Virginie; El It, Fatima; Rodan, Lance H.; Alkhateeb, Mohammad Ayman; Abou Jamra, Rami; Duplomb, Laurence; Tisserant, Emilie; Duffourd, Yannis; Bruel, Ange-Line; Jackson, Adam; Banka, Siddharth; McEntagart, Meriel; Saggar, Anand; Gleeson, Joseph G.; Sievert, David; Bae, Hyunwoo; Lee, Beom Hee; Kwon, Kisang; Seo, Go Hun; Lee, Hane; Saeed, Anjum; Anjum, Nadeem; Cheema, Huma; Alawbathani, Salem; Khan, Imran; Pinto-Basto, Jorge; Teoh, Joyce; Wong, Jasmine; Sahari, Umar Bin Mohamad; Houlden, Henry; Zhelcheska, Kristina; Pannetier, Melanie; Awad, Mona A.; Lesieur-Sebellin, Marion; Barcia, Giulia; Amiel, Jeanne; Delanne, Julian; Philippe, Christophe; Faivre, Laurence; Odent, Sylvie; Bertoli-Avella, Aida; Thauvin, Christel; Sadikovic, Bekim; Reversade, Bruno; Maroofian, Reza; Govin, Jerome; Tartaglia, Marco; Vitobello, Antonio 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
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases Marcogliese, Paul C.; Deal, Samantha L.; Andrews, Jonathan; Harnish, J. Michael; Bhavana, V. Hemanjani; Graves, Hillary K.; Jangam, Sharayu; Luo, Xi; Liu, Ning; Bei, Danqing; Yu-Hsin Chao; Hull, Brooke; Pei-Tseng Lee; Pan, Hongling; Bhadane, Pradnya; Mei-Chu Huang; Longley, Colleen M.; Hsiao-Tuan Chao; Hyung-lok Chung; Haelterman, Nele A.; Kanca, Oguz; Manivannan, Sathiya N.; Rossetti, Linda Z.; German, Ryan J.; Gerard, Amanda; Schwaibold, Eva Maria Christina; Fehr, Sarah; Guerrini, Renzo; Vetro, Annalisa; England, Eleina; Murali, Chaya N.; Barakat, Tahsin Stefan; van Dooren, Marieke F.; Wilke, Martina; van Slegtenhorst, Marjon; Lesca, Gaetan; Sabatier, Isabelle; Chatron, Nicolas; Brownstein, Catherine A.; Madden, Jill A.; Agrawal, Pankaj B.; Keren, Boris; Courtin, Thomas; Perrin, Laurence; Brugger, Melanie; Roser, Timo; Leiz, Steffen; Mau-Them, Frederic Tran; Delanne, Julian; Sukarova-Angelovska, Elena; Trajkova, Slavica; Rosenhahn, Erik; Strehlow, Vincent; Platzer, Konrad; Keller, Roberto; Pavinato, Lisa; Brusco, Alfredo; Rosenfeld, Jill A.; Marom, Ronit; Wangler, Michael F.; Yamamoto, Shinya Share Save
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Olaso, Robert; Ziegler, Alban; Jeanne, Mederic; Mau-Them, Frederic Tran; Couturier, Victor; Racine, Caroline; Isidor, Bertrand; Poe, Charlotte; Jouan, Thibaud; Boland, Anne; Fin, Bertrand; Bacq-Daian, Delphine; Besse, Celine; Garde, Aurore; Prost, Adeline; Garret, Philippine; Tisserant, Emilie; Delanne, Julian; Nambot, Sophie; Juven, Aurelien; Gorce, Magali; Nizon, Mathilde; Vincent, Marie; Moutton, Sebastien; Fradin, Melanie; Lavillaureix, Alinoe; Rollier, Paul; Capri, Yline; Van-Gils, Julien; Busa, Tiffany; Sigaudy, Sabine; Pasquier, Laurent; Barth, Magalie; Bruel, Ange-Line; Flamant, Cyril; Prouteau, Clement; Bonneau, Dominique; Toutain, Annick; Chantegret, Corinne; Callier, Patrick; Philippe, Christophe; Duffourd, Yannis; Deleuze, Jean-Francois; Sorlin, Arthur; Faivre, Laurence; Thauvin-Robinet, Christel Share Save
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity Thomas, Quentin; Gautier, Thierry; Marafi, Dana; Besnard, Thomas; Willems, Marjolaine; Moutton, Sebastien; Isidor, Bertand; Cogne, Benjamin; Conrad, Solene; Tenconi, Romano; Iascone, Maria; Sorlin, Arthur; Masurel, Alice; Dabir, Tabib; Jackson, Adam; Banka, Siddharth; Delanne, Julian; Lupski, James R.; Saadi, Nebal Waill; Alkuraya, Fowzan S.; Zahrani, Fatema Al; Agrawal, Pankaj B.; England, Eleina; Madden, Jill A.; Posey, Jennifer E.; Burglen, Lydie; Rodriguez, Diana; Chevarin, Martin; Nguyen, Sylvie; Mau-Them, Frederic Tran; Duffourd, Yannis; Garret, Philippine; Bruel, Ange-Line; Callier, Patrick; Marle, Nathalie; Denomme-Pichon, Anne-Sophie; Duplomb, Laurence; Philippe, Christophe; Thauvin-Robinet, Christel; Govin, Jerome; Faivre, Laurence; Vitobello, Antonio Share Save
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics Thomas, Quentin; Vitobello, Antonio; Mau-Them, Frederic Tran; Duffourd, Yannis; Fromont, Agnes; Giroud, Maurice; Daubail, Benoit; Jacquin-Piques, Agnes; Hervieu-Begue, Marie; Moreau, Thibault; Osseby, Guy-Victor; Garret, Philippine; Nambot, Sophie; Delanne, Julian; Bruel, Ange-Line; Sorlin, Arthur; Callier, Patrick; Denomme-Pichon, Anne-Sophie; Faivre, Laurence; Bejot, Yannick; Philippe, Christophe; Thauvin-Robinet, Christelle; Moutton, Sebastien Share Save
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics Thomas, Quentin; Vitobello, Antonio; Tran Mau-Them, Frederic; Duffourd, Yannis; Fromont, Agnes; Giroud, Maurice; Daubail, Benoit; Jacquin-Piques, Agnes; Hervieu-Begue, Marie; Moreau, Thibault; Osseby, Guy-Victor; Garret, Philippine; Nambot, Sophie; Delanne, Julian; Bruel, Ange-Line; Sorlin, Arthur; Callier, Patrick; Denomme-Pichon, Anne-Sophie; Faivre, Laurence; Bejot, Yannick; Philippe, Christophe; Thauvin-Robinet, Christel; Moutton, Sebastien Share Save
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay Vissers, Lisenka E. L. M.; Kalvakuri, Sreehari; de Boer, Elke; Geuer, Sinje; Oud, Machteld; van Outersterp, Inge; Kwint, Michael; Witmond, Melde; Kersten, Simone; Polla, Daniel L.; Weijers, Dilys; Begtrup, Amber; McWalter, Kirsty; Ruiz, Anna; Gabau, Elisabeth; Morton, Jenny E., V; Griffith, Christopher; Weiss, Karin; Gamble, Candace; Bartley, James; Vernon, Hilary J.; Brunet, Kendra; Ruivenkamp, Claudia; Kant, Sarina G.; Kruszka, Paul; Larson, Austin; Afenjar, Alexandra; de Villemeur, Thierry Billette; Nugent, Kimberly; Raymond, F. Lucy; Venselaar, Hanka; Demurger, Florence; Soler-Alfonso, Claudia; Li, Dong; Bhoj, Elizabeth; Hayes, Ian; Hamilton, Nina Powell; Ahmad, Ayesha; Fisher, Rachel; van den Born, Myrthe; Willems, Marjolaine; Sorlin, Arthur; Delanne, Julian; Moutton, Sebastien; Christophe, Philippe; Mau-Them, Frederic Tran; Vitobello, Antonio; Goel, Himanshu; Massingham, Lauren; Phornphutkul, Chanika; Schwab, Jennifer; Keren, Boris; Charles, Perrine; Vreeburg, Maaike; De Simone, Lenika; Hoganson, George; Iascone, Maria; Milani, Donatella; Evenepoel, Lucie; Revencu, Nicole; Ward, D. Isum; Burns, Kaitlyn; Krantz, Ian; Raible, Sarah E.; Murrell, Jill R.; Wood, Kathleen; Cho, Megan T.; van Bokhoven, Hans; Muenke, Maximilian; Kleefstra, Tjitske; Bodmer, Rolf; de Brouwer, Arjan P. M. Share Save
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders Mau-Them, Frederic Tran; Moutton, Sebastien; Racine, Caroline; Vitobello, Antonio; Bruel, Ange-Line; Nambot, Sophie; Kushner, Steven A.; de Vrij, Femke M. S.; Lehalle, Daphne; Jean-Marcais, Nolwenn; Lecoquierre, Francois; Delanne, Julian; Thevenon, Julien; Poe, Charlotte; Jouan, Thibaut; Chevarin, Martin; Genevieve, David; Willems, Marjolaine; Coubes, Christine; Houcinat, Nada; Masurel-Paulet, Alice; Mosca-Boidron, Anne-Laure; Tisserant, Emilie; Callier, Patrick; Sorlin, Arthur; Duffourd, Yannis; Faivre, Laurence; Philippe, Christophe; Thauvin-Robinet, Christel Share Save
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests Thauvin-Robinet, Christel; Thevenon, Julien; Nambot, Sophie; Delanne, Julian; Kuentz, Paul; Bruel, Ange-Line; Chassagne, Aline; Cretin, Elodie; Pelissier, Aurore; Peyron, Chritine; Gautier, Elodie; Lehalle, Daphne; Jean-Marcais, Nolwenn; Callier, Patrick; Mosca-Boidron, Anne-Laure; Vitobello, Antonio; Sorlin, Arthur; Mau-Them, Frederic Tran; Philippe, Christophe; Vabres, Pierre; Demougeot, Laurent; Poe, Charlotte; Jouan, Thibaud; Chevarin, Martin; Lefebvre, Mathilde; Bardou, Marc; Tisserant, Emilie; Luu, Maxime; Binquet, Christine; Deleuze, Jean-Francois; Verstuyft, Celine; Duffourd, Yannis; Faivre, Laurence Share Save
Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys) Podliesna, Svitlana; Delanne, Julian; Miller, Lindsey; Tester, David J.; Uzunyan, Merujan; Yano, Shoji; Klerk, Mischa; Cannon, Bryan C.; Khongphatthanayothin, Apichai; Laurent, Gabriel; Bertaux, Geraldine; Falcon-Eicher, Sylvie; Wu, Shengnan; Yen, Hai-Yun; Gao, Hanlin; Wilde, Arthur A. M.; Faivre, Laurence; Ackerman, Michael J.; Lodder, Elisabeth M.; Bezzina, Connie R. Share Save
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