Confirmation of risk of cancer in blepharocheilodontic syndrome von Ghoumid, Jamal, Lejeune, Sophie, Renaud, Florence, Stichelbout, Morgane, Petit, Florence, Manouvrier-Hanu, Sylvie

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Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity von Ghoumid, Jamal, Petit, Florence, Holder-Espinasse, Muriel, Jourdain, Anne-Sophie, Guerra, José, Dieux-Coeslier, Anne, Figeac, Martin, Porchet, Nicole, Manouvrier-Hanu, Sylvie, Escande, Fabienne

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Identification and Characterization of Known Biallelic Mutations in the IFT27 ( BBS19 ) Gene in a Novel Family With Bardet-Biedl Syndrome von Schaefer, Elise, Delvallée, Clarisse, Mary, Laura, Stoetzel, Corinne, Geoffroy, Véronique, Marks-Delesalle, Caroline, Holder-Espinasse, Muriel, Ghoumid, Jamal, Dollfus, Hélène, Muller, Jean

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Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb von Mansour-Hendili, Lamisse, Gitiaux, Cyril, Harion, Madeleine, Latouche, Céline, Heron, Bénédicte, Stojkovic, Tanya, Rama, Mélanie, Smol, Thomas, Sophie Jourdain, Anne, Mention, Karine, Nadjar, Yann, Schiff, Manuel, Lemale, Julie, Ghoumid, Jamal, Gottrand, Frédéric, Talbotec, Cécile, Rötig, Agnès, Funalot, Benoît, Desguerre, Isabelle

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ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome von Ghoumid, Jamal, Drevillon, Loïc, Alavi-Naini, Seyedeh Maryam, Bondurand, Nadège, Rio, Marlène, Briand-Suleau, Audrey, Nasser, Mayssa, Goodwin, Linda, Raymond, Patrick, Yanicostas, Constantin, Goossens, Michel, Lyonnet, Stanislas, Mowat, David, Amiel, Jeanne, Soussi-Yanicostas, Nadia, Giurgea, Irina

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Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis von Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel F., Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Vergano, Samantha A. Schrier, Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Feldman, Hagit Baris, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., Lachlan, Katherine

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A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency von Dessein, Anne-Frédérique, Hebbar, Eléonore, Vamecq, Joseph, Lebredonchel, Elodie, Devos, Aurore, Ghoumid, Jamal, Mention, Karine, Dobbelaere, Dries, Chevalier-Curt, Marie Joncquel, Fontaine, Monique, Defoort, Sabine, Smirnov, Vassily, Douillard, Claire, Dhaenens, Claire-Marie

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O46: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome von Burger, Pauline, Colin, Florent, Strehle, Axelle, Mazzucotelli, Timothée, Collot, Nicole, Bouman, Ariane, Prat, Daphna Landau, Geneviève, David, Ruault, Valentin, Caumes, Roseline, Smol, Thomas, Ghoumid, Jamal, Kummeling, Joost, Ockeloen, Charlotte, Kleefstra, Tjitske, Parrend, Pierre, Piton, Amélie, Koolen, David, Mandel, Jean-Louis

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Childhood‐onset progressive dystonia associated with pathogenic truncating variants in CHD8 von Doummar, Diane, Treven, Marco, Qebibo, Leila, Devos, David, Ghoumid, Jamal, Ravelli, Claudia, Kranz, Gottfried, Krenn, Martin, Demailly, Diane, Cif, Laura, Davion, Jean‐Baptiste, Zimprich, Fritz, Burglen, Lydie, Zech, Michael

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Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella von Barbotin, Anne-Laure, Boursier, Angèle, Jourdain, Anne-Sophie, Moerman, Alexandre, Rabat, Baptiste, Chehimi, Mariam, Thuillier, Caroline, Ghoumid, Jamal, Smol, Thomas

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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia von Ebrahimi-Fakhari, Darius, Teinert, Julian, Behne, Robert, Wimmer, Miriam, D'Amore, Angelica, Eberhardt, Kathrin, Brechmann, Barbara, Ziegler, Marvin, Jensen, Dana M., Nagabhyrava, Premsai, Geisel, Gregory, Carmody, Erin, Shamshad, Uzma, Dies, Kira A., Yuskaitis, Christopher J., Salussolia, Catherine L., Ebrahimi-Fakhari, Daniel, Pearson, Toni S., Saffari, Afshin, Ziegler, Andreas, Koelker, Stefan, Volkmann, Jens, Wiesener, Antje, Bearden, David R., Lakhani, Shenela, Segal, Devorah, Udwadia-Hegde, Anaita, Martinuzzi, Andrea, Hirst, Jennifer, Perlman, Seth, Takiyama, Yoshihisa, Xiromerisiou, Georgia, Vill, Katharina, Walker, William O., Shukla, Anju, Gupta, Rachana Dubey, Dahl, Niklas, Aksoy, Ayse, Verhelst, Helene, Delgado, Mauricio R., Pourova, Radka Kremlikova, Sadek, Abdelrahim A., Elkhateeb, Nour M., Blumkin, Lubov, Brea-Fernandez, Alejandro J., Dacruz-Alvarez, David, Smol, Thomas, Ghoumid, Jamal, Miguel, Diego, Heine, Constanze, Schlump, Jan-Ulrich, Langen, Hendrik, Baets, Jonathan, Bulk, Saskia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C., Lim-Melia, Elizabeth, Aydinli, Nur, Alanay, Yasemin, El-Rashidy, Omnia, Nampoothiri, Sheela, Patel, Chirag, Beetz, Christian, Bauer, Peter, Yoon, Grace, Guillot, Mireille, Miller, Steven P., Bourinaris, Thomas, Houlden, Henry, Robelin, Laura, Anheim, Mathieu, Alamri, Abdullah S., Mahmoud, Adel A. H., Inaloo, Soroor, Habibzadeh, Parham, Faghihi, Mohammad Ali, Jansen, Anna C., Brock, Stefanie, Roubertie, Agathe, Darras, Basil T., Agrawal, Pankaj B., Santorelli, Filippo M., Gleeson, Joseph, Zaki, Maha S., Sheikh, Sarah, Bennett, James T., Sahin, Mustafa

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Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome von Lebrun, Nicolas, Giurgea, Irina, Goldenberg, Alice, Dieux, Anne, Afenjar, Alexandra, Ghoumid, Jamal, Diebold, Bertrand, Mietton, Léo, Briand-Suleau, Audrey, Billuart, Pierre, Bienvenu, Thierry

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Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters von Smol, Thomas, Frénois, Frédéric, Manouvrier-Hanu, Sylvie, Petit, Florence, Ghoumid, Jamal

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Phenotypic spectrum of SHANK2-related neurodevelopmental disorder von Caumes, Roseline, Smol, Thomas, Thuillier, Caroline, Balerdi, Marie, Lestienne-Roche, Catherine, Manouvrier-Hanu, Sylvie, Ghoumid, Jamal

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Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome von Vanlerberghe, Clémence, Jourdain, Anne Sophie, Frenois, Frédéric, Ait-Yahya, Emilie, Bamshad, Mike, Dieux, Anne, Dufour, William, Leduc, Fiona, Manouvrier-Hanu, Sylvie, Patterson, Karynne, Ghoumid, Jamal, Escande, Fabienne, Smol, Thomas, Brunelle, Perrine, Petit, Florence

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RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront von Vanlerberghe, Clémence, Frénois, Frédéric, Smol, Thomas, Jourdain, Anne-Sophie, Escande, Fabienne, Aït-Yahya, Emilie, Aldeeri, Abdulrahman A., Yu, Timothy W., Cormier-Daire, Valérie, Ghoumid, Jamal, Jacob, Maureen, Newbury-Ecob, Ruth, Manouvrier, Sylvie, Platon, Jessica, Sailer, Sebastian, Brunelle, Perrine, Da Costa, Lydie, Petit, Florence

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Highlighting the Dystonic Phenotype Related to GNAO1 von Wirth, Thomas, Garone, Giacomo, Kurian, Manju A., Piton, Amélie, Millan, Francisca, Telegrafi, Aida, Drouot, Nathalie, Rudolf, Gabrielle, Chelly, Jamel, Marks, Warren, Burglen, Lydie, Demailly, Diane, Coubes, Phillipe, Castro‐Jimenez, Mayte, Joriot, Sylvie, Ghoumid, Jamal, Belin, Jérémie, Faucheux, Jean‐Marc, Blumkin, Lubov, Hull, Mariam, Parnes, Mered, Ravelli, Claudia, Poulen, Gaëtan, Calmels, Nadège, Nemeth, Andrea H., Smith, Martin, Barnicoat, Angela, Ewenczyk, Claire, Méneret, Aurélie, Roze, Emmanuel, Keren, Boris, Mignot, Cyril, Beroud, Christophe, Acosta, Fernando, Nowak, Catherine, Wilson, William G., Steel, Dora, Capuano, Alessandro, Vidailhet, Marie, Lin, Jean‐Pierre, Tranchant, Christine, Cif, Laura, Doummar, Diane, Anheim, Mathieu

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Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene? von Smol, Thomas, Ribero-Karrouz, Wassila, Edery, Patrick, Gorduza, Daniela Brindusa, Catteau-Jonard, Sophie, Manouvrier-Hanu, Sylvie, Ghoumid, Jamal

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Expanded phenotypic spectrum of UDP‐glucose‐6‐dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy von Plante‐Bordeneuve, Pauline, Boussion, Simon, Rama, Mélanie, Brunelle, Perrine, Thuillier, Caroline, Vanlerberghe, Clémence, Caumes, Roseline, Colson, Cindy, Ait‐Yahya, Emilie, Ghoumid, Jamal, Smol, Thomas

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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis von Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel F., Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Schrier Vergano, Samantha A., Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Baris Feldman, Hagit, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., Lachlan, Katherine

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