Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism by Michaud, Vincent, Sequeira, Angèle, Mercier, Elina, Lasseaux, Eulalie, Plaisant, Claudio, Hadj‐Rabia, Smail, Whalen, Sandra, Bonneau, Dominique, Dieux‐Coeslier, Anne, Morice‐Picard, Fanny, Coursimault, Juliette, Arveiler, Benoît, Javerzat, Sophie

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2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review by Bouassida, Malek, Egloff, Matthieu, Levy, Jonathan, Chatron, Nicolas, Bernardini, Laura, Le Guyader, Gwenaël, Tabet, Anne-Claude, Schluth-Bolard, Caroline, Brancati, Francesco, Giuffrida, Maria Grazia, Dard, Rodolphe, Clorennec, Juliette, Coursimault, Juliette, Vialard, François, Hervé, Bérénice

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Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene by 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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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects by 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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Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants by Cassinari, Kévin, Rovelet-Lecrux, Anne, Derambure, Céline, Vezain, Myriam, Coutant, Sophie, Richard, Anne-Claire, Drouot, Nathalie, Coursimault, Juliette, Vera, Gabriella, Goldenberg, Alice, Saugier-Veber, Pascale, Charbonnier, Camille, Nicolas, Gaël

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Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations by 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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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects by Coursimault, Juliette, Guerrot, Anne-Marie, Morrow, Michelle, 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, Hernan, Rebecca, Larson, Austin, Nori, Kelly, Stewart, Sarah, Wheless, James, Kresge, Christina, Pletcher, Beth, Caumes, Roseline, Smol, Thomas, Sigaudy, Sabine, Coubes, Christine, Helm, Margaret, Smith, Rosemarie, Morrison, Jennifer, Wheeler, Patricia, 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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Discordances multiples entre dépistage de la trisomie 21 sur ADN libre circulant, caryotype et échographie fœtale compliquant la prise en charge de la grossesse by Cassinari, Kévin, Joly-Helas, Géraldine, Le Meur, Nathalie, Coursimault, Juliette, Diguet, Alain, Verspyck, Eric, Torre, Stéphanie, Macé, Bertrand, Frebourg, Thierry, Chambon, Pascal

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