30 years of repeat expansion disorders: What have we learned and what are the remaining challenges? von Depienne, Christel, Mandel, Jean-Louis

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XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing von Piton, Amélie, Redin, Claire, Mandel, Jean-Louis

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G-quadruplex RNA structure as a signal for neurite mRNA targeting von Subramanian, Murugan, Rage, Florence, Tabet, Ricardos, Flatter, Eric, Mandel, Jean-Louis, Moine, Hervé

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Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes von Durand, Benjamin, Schaefer, Elise, Burger, Pauline, Baer, Sarah, Schroder, Carmen, Mandel, Jean‐Louis, Piton, Amélie, Coutelle, Romain

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Spatial control of nucleoporin condensation by fragile X‐related proteins von Agote‐Aran, Arantxa, Schmucker, Stephane, Jerabkova, Katerina, Jmel Boyer, Inès, Berto, Alessandro, Pacini, Laura, Ronchi, Paolo, Kleiss, Charlotte, Guerard, Laurent, Schwab, Yannick, Moine, Hervé, Mandel, Jean‐Louis, Jacquemont, Sebastien, Bagni, Claudia, Sumara, Izabela

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Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention von Forbes, Elana J., Morison, Lottie D., Lelik, Fatma, Howell, Tegan, Debono, Simone, Goel, Himanshu, Burger, Pauline, Mandel, Jean‐Louis, Geneviève, David, Amor, David J., Morgan, Angela T.

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Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment von Quartier, Angélique, Courraud, Jérémie, Thi Ha, Thuong, McGillivray, George, Isidor, Bertrand, Rose, Katherine, Drouot, Nathalie, Savidan, Marie‐Armel, Feger, Claire, Jagline, Hélène, Chelly, Jamel, Shaw, Marie, Laumonnier, Frédéric, Gecz, Jozef, Mandel, Jean‐Louis, Piton, Amélie

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Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder von Quartier, Angélique, Chatrousse, Laure, Redin, Claire, Keime, Céline, Haumesser, Nicolas, Maglott-Roth, Anne, Brino, Laurent, Le Gras, Stéphanie, Benchoua, Alexandra, Mandel, Jean-Louis, Piton, Amélie

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AAV‐delivered diacylglycerol kinase DGKk achieves long‐term rescue of fragile X syndrome mouse model von Habbas, Karima, Cakil, Oktay, Zámbó, Boglárka, Tabet, Ricardos, Riet, Fabrice, Dembele, Doulaye, Mandel, Jean‐Louis, Hocquemiller, Michaël, Laufer, Ralph, Piguet, Françoise, Moine, Hervé

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Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin‐proteasome pathways von Al‐Qusairi, Lama, Prokic, Ivana, Amoasii, Leonela, Kretz, Christine, Messaddeq, Nadia, Mandel, Jean‐Louis, Laporte, Jocelyn

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Clinical and radiological assessment of scoliosis in Koolen‐de Vries syndrome von Bouman, Arianne, Bouwmeester, Romy N., Vlimmeren, Leo A., Burger, Pauline, Mandel, Jean‐Louis, Vries, Bert B. A., Kleuver, Marinus, Klein, Willemijn M., Geelen, Joyce M., Koolen, David A.

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Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons von Tabet, Ricardos, Moutin, Enora, Becker, Jérôme A. J., Heintz, Dimitri, Fouillen, Laetitia, Flatter, Eric, Krężel, Wojciech, Alunni, Violaine, Koebel, Pascale, Dembélé, Doulaye, Tassone, Flora, Bardoni, Barbara, Mandel, Jean-Louis, Vitale, Nicolas, Muller, Dominique, Le Merrer, Julie, Moine, Hervé

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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome von Delvallée, Clarisse, Nicaise, Samuel, Antin, Manuela, Leuvrey, Anne‐Sophie, Nourisson, Elsa, Leitch, Carmen C., Kellaris, Georgios, Stoetzel, Corinne, Geoffroy, Véronique, Scheidecker, Sophie, Keren, Boris, Depienne, Christel, Klar, Joakim, Dahl, Niklas, Deleuze, Jean‐François, Génin, Emmanuelle, Redon, Richard, Demurger, Florence, Devriendt, Koenraad, Mathieu‐Dramard, Michèle, Poitou‐Bernert, Christine, Odent, Sylvie, Katsanis, Nicholas, Mandel, Jean‐Louis, Davis, Erica E., Dollfus, Hélène, Muller, Jean

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Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome von Schaefer, Elise, Stoetzel, Corinne, Scheidecker, Sophie, Geoffroy, Véronique, Prasad, Megana K, Redin, Claire, Missotte, Isabelle, Lacombe, Didier, Mandel, Jean-Louis, Muller, Jean, Dollfus, Hélène

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G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer von Didiot, Marie-Cécile, Tian, Zhaoxia, Schaeffer, Céline, Subramanian, Murugan, Mandel, Jean-Louis, Moine, Hervé

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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder von Mattioli, Francesca, Hayot, Gaelle, Drouot, Nathalie, Isidor, Bertrand, Courraud, Jérémie, Hinckelmann, Maria-Victoria, Mau-Them, Frederic Tran, Sellier, Chantal, Goldman, Alica, Telegrafi, Aida, Boughton, Alicia, Gamble, Candace, Moutton, Sebastien, Quartier, Angélique, 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, Amélie

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T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase von Al-Qusairi, Lama, Weiss, Norbert, Toussaint, Anne, Berbey, Céline, Messaddeq, Nadia, Kretz, Christine, Sanoudou, Despina, Beggs, Alan H, Allard, Bruno, Mandel, Jean-Louis, Laporte, Jocelyn, Jacquemond, Vincent, Buj-Bello, Anna

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The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA von Coutelle, Romain, Boedec, Morgane, Vermeulen, Karlijn, Kummeling, Joost, Koolen, David A, Kleefstra, Tjitske, Fournier, Camille, Colin, Florent, Strehle, Axelle, Geneviève, David, Burger, Pauline, Mandel, Jean-Louis

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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations von BÖHM, Johann, BIANCALANA, Valérie, LAFORET, Pascal, MAISONOBE, Thierry, OLIVE, Montse, GONZALEZ-MERA, Laura, FARDEAU, Michel, CARRIERE, Nathalie, CLAVELOU, Pierre, EYMARD, Bruno, BITOUN, Marc, RENDU, John, MALFATTI, Edoardo, FAURE, Julien, WEIS, Joachim, MANDEL, Jean-Louis, ROMERO, Norma B, LAPORTE, Jocelyn, DONDAINE, Nicolas, KOCH, Catherine, VASLI, Nasim, KRESS, Wolfram, STRITTMATTER, Matthias, TARATUTO, Ana Lia, GONORAZKY, Hernan

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes von Redin, Claire, Le Gras, Stéphanie, Mhamdi, Oussema, Geoffroy, Véronique, Stoetzel, Corinne, Vincent, Marie-Claire, Chiurazzi, Pietro, Lacombe, Didier, Ouertani, Ines, Petit, Florence, Till, Marianne, Verloes, Alain, Jost, Bernard, Chaabouni, Habiba Bouhamed, Dollfus, Helene, Mandel, Jean-Louis, Muller, Jean

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