Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants von Lecoquierre, François, Duffourd, Yannis, Vitobello, Antonio, Bruel, Ange-Line, Urteaga, Benoit, Coubes, Christine, Garret, Philippine, Nambot, Sophie, Chevarin, Martin, Jouan, Thibaud, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Philippe, Christophe, Sorlin, Arthur, Faivre, Laurence, Thauvin-Robinet, Christel

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders von Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christèle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim

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Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing von Lecoquierre, François, Cassinari, Kévin, Drouot, Nathalie, May, Angèle, Fourneaux, Steeve, Charbonnier, Francoise, Derambure, Celine, Coutant, Sophie, Saugier-Veber, Pascale, Hoischen, Alexander, Charbonnier, Camille, Nicolas, Gaël

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Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element von Cassinari, Kévin, Rovelet‐Lecrux, Anne, Tury, Sandrine, Quenez, Olivier, Richard, Anne‐Claire, Charbonnier, Camille, Olaso, Robert, Boland, Anne, Deleuze, Jean‐François, Besancenot, Jean‐François, Delpont, Benoit, Pouliquen, Dorothée, Lecoquierre, François, Chambon, Pascal, Thauvin‐Robinet, Christel, Campion, Dominique, Frebourg, Thierry, Battini, Jean‐Luc, Nicolas, Gaël

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Evaluation of Analytical and Clinical Performance and Usefulness in a Real-Life Hospital Setting of Two in-House Real-Time RT-PCR Assays to Track SARS-CoV-2 Variants of Concern von Moisan, Alice, Soares, Anaïs, De Oliveira, Fabienne, Alessandri-Gradt, Elodie, Lecoquierre, François, Fourneaux, Steeve, Plantier, Jean-Christophe, Gueudin, Marie

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High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders von Lecoquierre, François, Quenez, Olivier, Fourneaux, Steeve, Coutant, Sophie, Vezain, Myriam, Rolain, Marion, Drouot, Nathalie, Boland, Anne, Olaso, Robert, Meyer, Vincent, Deleuze, Jean-François, Dabbagh, Dana, Gilles, Isabelle, Gayet, Claire, Saugier-Veber, Pascale, Goldenberg, Alice, Guerrot, Anne-Marie, Nicolas, Gaël

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Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy von Vezain, Myriam, Thauvin-Robinet, Christel, Vial, Yoann, Coutant, Sophie, Drunat, Séverine, Urtizberea, Jon Andoni, Rolland, Anne, Jacquin-Piques, Agnès, Fehrenbach, Séverine, Nicolas, Gaël, Lecoquierre, François, Saugier-Veber, Pascale

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Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients von Coursimault, Juliette, Cassinari, Kévin, Lecoquierre, François, Quenez, Olivier, Coutant, Sophie, Derambure, Céline, Vezain, Myriam, Drouot, Nathalie, Vera, Gabriella, Schaefer, Elise, Philippe, Anaïs, Doray, Bérénice, Lambert, Laëtitia, Ghoumid, Jamal, Smol, Thomas, Rama, Mélanie, Legendre, Marine, Lacombe, Didier, Fergelot, Patricia, Olaso, Robert, Boland, Anne, Deleuze, Jean‐François, Goldenberg, Alice, Saugier‐Veber, Pascale, Nicolas, Gaël

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uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome von Coursimault, Juliette, Rovelet‐Lecrux, Anne, Cassinari, Kévin, Brischoux‐Boucher, Elise, Saugier‐Veber, Pascale, Goldenberg, Alice, Lecoquierre, François, Drouot, Nathalie, Richard, Anne‐Claire, Vera, Gabriella, Coutant, Sophie, Quenez, Olivier, Rolain, Marion, Bonnet, Céline, Bronner, Myriam, Lecourtois, Magalie, Nicolas, Gaël

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Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder von Blackburn, Patrick R., Ebstein, Frédéric, Hsieh, Tzung‐Chien, Motta, Marialetizia, Radio, Francesca Clementina, Herkert, Johanna C., Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gerard, Bénédicte, Smol, Thomas, Vincent‐Delorme, Catherine, Cogné, Benjamin, Isidor, Bertrand, Vincent, Marie, Bachmann‐Gagescu, Ruxandra, Rauch, Anita, Joset, Pascal, Ferrero, Giovanni Battista, Ciolfi, Andrea, Husson, Thomas, Guerrot, Anne‐Marie, Bacino, Carlos, Macmurdo, Colleen, Thompson, Stephanie S., Rosenfeld, Jill A., Faivre, Laurence, Mau‐Them, Frederic Tran, Deb, Wallid, Vignard, Virginie, Agrawal, Pankaj B., Madden, Jill A., Goldenberg, Alice, Lecoquierre, François, Zech, Michael, Prokisch, Holger, Necpál, Ján, Jech, Robert, Winkelmann, Juliane, Koprušáková, Monika Turčanová, Konstantopoulou, Vassiliki, Younce, John R., Shinawi, Marwan, Mighton, Chloe, Fung, Charlotte, Morel, Chantal F., Lerner‐Ellis, Jordan, DiTroia, Stephanie, Barth, Magalie, Bonneau, Dominique, Krapels, Ingrid, Stegmann, Alexander P.A., Schoot, Vyne, Brunet, Theresa, Bußmann, Cornelia, Mignot, Cyril, Zampino, Giuseppe, Wortmann, Saskia B., Mayr, Johannes A., Feichtinger, René G., Courtin, Thomas, Ravelli, Claudia, Keren, Boris, Ziegler, Alban, Hasadsri, Linda, Pichurin, Pavel N., Klee, Eric W., Grand, Katheryn, Sanchez‐Lara, Pedro A., Krüger, Elke, Bézieau, Stéphane, Klinkhammer, Hannah, Krawitz, Peter Michael, Eichler, Evan E., Tartaglia, Marco, Küry, Sébastien, Wang, Tianyun

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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders von Husson, Thomas, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, Céline, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, Nicolas, Cogné, Benjamin, Colin, Estelle, Cormier-Daire, Valérie, Dard, Rodolphe, Dauriat, Benjamin, Delanne, Julian, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Dieux, Anne, Dubourg, Christèle, Edery, Patrick, El Chehadeh, Salima, Faivre, Laurence, Fergelot, Patricia, Fradin, Mélanie, Garde, Aurore, Geneviève, David, Gilbert-Dussardier, Brigitte, Goizet, Cyril, Goldenberg, Alice, Gouy, Evan, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Le Guillou Horn, Xavier, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, Stanislas, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, Mathilde, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, Florence, Pingault, Veronique, Piton, Amélie, Prieur, Fabienne, Putoux, Audrey, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, Sylvia, Rama, Mélanie, Rio, Marlène, Rossi, Massimiliano, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, Thomas, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic Tran, Trimouille, Aurélien, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, Marie, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, Charbonnier, Camille

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Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation von Quenez, Olivier, Cassinari, Kevin, Coutant, Sophie, Lecoquierre, François, Le Guennec, Kilan, Rousseau, Stéphane, Richard, Anne-Claire, Vasseur, Stéphanie, Bouvignies, Emilie, Bou, Jacqueline, Lienard, Gwendoline, Manase, Sandrine, Fourneaux, Steeve, Drouot, Nathalie, Nguyen-Viet, Virginie, Vezain, Myriam, Chambon, Pascal, Joly-Helas, Géraldine, Le Meur, Nathalie, Castelain, Mathieu, Boland, Anne, Deleuze, Jean-François, Tournier, Isabelle, Charbonnier, Françoise, Kasper, Edwige, Bougeard, Gaëlle, Frebourg, Thierry, Saugier-Veber, Pascale, Baert-Desurmont, Stéphanie, Campion, Dominique, Rovelet-Lecrux, Anne, Nicolas, Gaël

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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects von Coursimault, Juliette, Guerrot, Anne-Marie, Morrow, Michelle M., Schramm, Catherine, Zamora, Francisca Millan, Shanmugham, Anita, Liu, Shuxi, Zou, Fanggeng, Bilan, Frédéric, Le Guyader, Gwenaël, Bruel, Ange-Line, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Tran Mau-Them, Frédéric, Tessarech, Marine, Colin, Estelle, El Chehadeh, Salima, Gérard, Bénédicte, Schaefer, Elise, Cogne, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Doummar, Diane, Valence, Stéphanie, Héron, Delphine, Keren, Boris, Mignot, Cyril, Coutton, Charles, Devillard, Françoise, Alaix, Anne-Sophie, Amiel, Jeanne, Colleaux, Laurence, Munnich, Arnold, Poirier, Karine, Rio, Marlène, Rondeau, Sophie, Barcia, Giulia, Callewaert, Bert, Dheedene, Annelies, Kumps, Candy, Vergult, Sarah, Menten, Björn, Chung, Wendy K., Hernan, Rebecca, Larson, Austin, Nori, Kelly, Stewart, Sarah, Wheless, James, Kresge, Christina, Pletcher, Beth A., Caumes, Roseline, Smol, Thomas, Sigaudy, Sabine, Coubes, Christine, Helm, Margaret, Smith, Rosemarie, Morrison, Jennifer, Wheeler, Patricia G., Kritzer, Amy, Jouret, Guillaume, Afenjar, Alexandra, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Poitou, Christine, Frebourg, Thierry, Houdayer, Claude, Saugier-Veber, Pascale, Nicolas, Gaël, Lecoquierre, François

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Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene–phenotype reassessment in clinical routine von Yauy, Kevin, Lecoquierre, François, Baert-Desurmont, Stéphanie, Trost, Detlef, Boughalem, Aicha, Luscan, Armelle, Costa, Jean-Marc, Geromel, Vanna, Raymond, Laure, Richard, Pascale, Coutant, Sophie, Broutin, Mélanie, 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

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Penetrance, variable expressivity and monogenic neurodevelopmental disorders von de Masfrand, Servane, Cogné, Benjamin, Nizon, Mathilde, Deb, Wallid, Goldenberg, Alice, Lecoquierre, François, Nicolas, Gaël, Bournez, Marie, Vitobello, Antonio, Mau-Them, Frédéric Tran, le Guyader, Gwenaël, Bilan, Frédéric, Bauer, Peter, Zweier, Christiane, Piard, Juliette, Pasquier, Laurent, Bézieau, Stéphane, Gerard, Bénédicte, Faivre, Laurence, Saugier-Veber, Pascale, Piton, Amélie, Isidor, Bertrand

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Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene von Coursimault, Juliette, Goldenberg, Alice, Nicolas, Gaël, Saugier-Veber, Pascale, Coutant, Sophie, Vincent, Anne, Pouliquen, Dorothée, Feltin, Cécile, Aref‐Eshghi, Erfan, Sadikovic, Bekim, Lecoquierre, François

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders von Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., France, Groupe DI, Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christéle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim

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NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation von Dabaj, Ivana, Sudrié-Arnaud, Bénédicte, Lecoquierre, François, Raymond, Kimiyo, Ducatez, Franklin, Guerrot, Anne-Marie, Snanoudj, Sarah, Coutant, Sophie, Saugier-Veber, Pascale, Marret, Stéphane, Nicolas, Gaël, Tebani, Abdellah, Bekri, Soumeya

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Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations von Coursimault, Juliette, Lecoquierre, François, Saugier-Veber, Pascale, Drouin-Garraud, Valérie, Lechevallier, Joël, Boland, Anne, Deleuze, Jean-François, Frebourg, Thierry, Nicolas, Gaël, Brehin, Anne-Claire

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Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed deve... von Tran Mau-Them, Frederic, Moutton, Sebastien, Racine, Caroline, Vitobello, Antonio, Bruel, Ange-Line, Nambot, Sophie, Kushner, Steven A., de Vrij, Femke M. S., Lehalle, Daphné, Jean-Marçais, Nolwenn, Lecoquierre, François, Delanne, Julian, Thevenon, Julien, Poe, Charlotte, Jouan, Thibaut, Chevarin, Martin, Geneviève, 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

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