Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders by El Khouri, E, Ghoumid, J, Haye, D, Giuliano, F, Drevillon, L, Briand-Suleau, A, De La Grange, P, Nau, V, Gaillon, T, Bienvenu, T, Jacquemin-Sablon, H, Goossens, M, Amselem, S, Giurgea, I

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Small patella syndrome: New clinical and molecular insights into a consistent phenotype by Vanlerberghe, C., Jourdain, A.‐S., Dieux, A., Toutain, A., Callewaert, B., Dupuis‐Girod, S., Unger, S., Wright, M., Isidor, B., Ghoumid, J., Petit, F., Boutry, N., Escande, F., Manouvrier‐Hanu, S.

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SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1‐mutated patient's management by Colson, C., Aubry, E., Cartigny, M., Rémy, A.‐A., Franquet, H., Leroy, X., Kéchid, G., Lefèvre, C., Besson, R., Cools, M., Spinoit, A.F., Sultan, C., Manouvrier, S., Philibert, P., Ghoumid, J.

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Hypothyroïdie congénitale secondaire à une délétion sur le chromosome 2, associée à une cardiopathie, un syndrome de Léri–Weill et un syndrome de Rokitansky. À propos d’un cas... by Benderradji, H., Bouzaib, S., Ghoumid, J., Karrouz, W.

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Wnt/[beta]-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders by El Khouri, E, Ghoumid, J, Haye, D, Giuliano, F, Drevillon, L, Briand-Suleau, A, De La Grange, P

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Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity by 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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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia by 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, Kölker, 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, Dubey Gupta, Rachana, Dahl, Niklas, Aksoy, Ayse, Verhelst, Helene, Delgado, Mauricio R, Kremlikova Pourova, Radka, Sadek, Abdelrahim A, Elkhateeb, Nour M, Blumkin, Lubov, Brea-Fernández, Alejandro J, Dacruz-Álvarez, 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 I, Bennett, James T, Sahin, Mustafa

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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis by 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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Enhanced Sensitivity of SAW-Based Pirani Vacuum Pressure Sensor by Singh, K J, Elmazria, O, Sarry, F, Nicolay, P, Ghoumid, K, Belgacem, B, Mercier, D, Bounouar, J

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Arterial tortuosity syndrome: 40 new families and literature review by Beyens, Aude, Albuisson, Juliette, Boel, Annekatrien, Al-Essa, Mazen, Al-Manea, Waheed, Bonnet, Damien, Bostan, Ozlem, Boute, Odile, Busa, Tiffany, Canham, Nathalie, Cil, Ergun, Coucke, Paul J, Cousin, Margot A, Dasouki, Majed, De Backer, Julie, De Paepe, Anne, De Schepper, Sofie, De Silva, Deepthi, Devriendt, Koenraad, De Wandele, Inge, Deyle, David R, Dietz, Harry, Dupuis-Girod, Sophie, Fontenot, Eudice, Fischer-Zirnsak, Björn, Gezdirici, Alper, Ghoumid, Jamal, Giuliano, Fabienne, Diéz, Neus Baena, Haider, Mohammed Z, Hardin, Joshua S, Jeunemaitre, Xavier, Klee, Eric W, Kornak, Uwe, Landecho, Manuel F, Legrand, Anne, Loeys, Bart, Lyonnet, Stanislas, Michael, Helen, Moceri, Pamela, Mohammed, Shehla, Muiño-Mosquera, Laura, Nampoothiri, Sheela, Pichler, Karin, Prescott, Katrina, Rajeb, Anna, Ramos-Arroyo, Maria, Rossi, Massimiliano, Salih, Mustafa, Seidahmed, Mohammed Z, Schaefer, Elise, Steichen-Gersdorf, Elisabeth, Temel, Sehime, Uysal, Fahrettin, Vanhomwegen, Marine, Van Laer, Lut, Van Maldergem, Lionel, Warner, David, Willaert, Andy, Collins, Tom R, Taylor, Andrea, Davis, Elaine C, Zarate, Yuri, Callewaert, Bert

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Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis by 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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Biallelic variants in GLE1 with survival beyond neonatal period by Yates, T. Michael, Campeau, Philippe M., Ghoumid, Jamal, Kibaek, Maria, Larsen, Martin J., Smol, Thomas, Albaba, Sami, Hertz, Jens Michael, Balasubramanian, Meena

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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy by Klöckner, Chiara, Sticht, Heinrich, Zacher, Pia, Popp, Bernt, Babcock, Holly E., Bakker, Dewi P., Barwick, Katy, Bonfert, Michaela V., Bönnemann, Carsten G., Brilstra, Eva H., Chung, Wendy K., Clarke, Angus J., Devine, Patrick, Donkervoort, Sandra, Fraser, Jamie L., Friedman, Jennifer, Gates, Alyssa, Ghoumid, Jamal, Hobson, Emma, Horvath, Gabriella, Keller-Ramey, Jennifer, Keren, Boris, Kurian, Manju A., Lee, Virgina, Leppig, Kathleen A., Lundgren, Johan, McDonald, Marie T., McLaughlin, Heather M., McTague, Amy, Mefford, Heather C., Mignot, Cyril, Mikati, Mohamad A., Nava, Caroline, Raymond, F. Lucy, Sampson, Julian R., Sanchis-Juan, Alba, Shashi, Vandana, Shieh, Joseph T.C., Shinawi, Marwan, Slavotinek, Anne, Stödberg, Tommy, Stong, Nicholas, Sullivan, Jennifer A., Taylor, Ashley C., Toler, Tomi L., van den Boogaard, Marie-José, van der Crabben, Saskia N., van Gassen, Koen L.I., van Jaarsveld, Richard H., Van Ziffle, Jessica, Wadley, Alexandrea F., Wagner, Matias, Wigby, Kristen, Wortmann, Saskia B., Zarate, Yuri A., Møller, Rikke S., Lemke, Johannes R., Platzer, Konrad

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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 by 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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Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum by Crow, Yanick J, Marshall, Heather, Rice, Gillian I, Seabra, Luis, Jenkinson, Emma M, Baranano, Kristin, Battini, Roberta, Berger, Andrea, Blair, Edward, Blauwblomme, Thomas, Bolduc, Francois, Boddaert, Natalie, Buckard, Johannes, Burnett, Heather, Calvert, Sophie, Caumes, Roseline, Ng, Andy Cheuk‐Him, Chiang, Diana, Clifford, David B, Cordelli, Duccio M, Burca, Anna, Demic, Natasha, Desguerre, Isabelle, De Waele, Liesbeth, Di Fonzo, Alessio, Dunham, S. Richard, Dyack, Sarah, Elmslie, Frances, Ferrand, Mickaël, Fisher, Gemma, Karimiani, Ehsan Ghayoor, Ghoumid, Jamal, Gibbon, Frances, Goel, Himanshu, Hilmarsen, Hilde T, Hughes, Imelda, Jacob, Anu, Jones, Elizabeth A, Kumar, Ram, Leventer, Richard J, MacDonald, Shelley, Maroofian, Reza, Mehta, Sarju G, Metz, Imke, Monfrini, Edoardo, Neumann, Daniela, Noetzel, Michael, O'Driscoll, Mary, Õunap, Katrin, Panzer, Axel, Parikh, Sumit, Prabhakar, Prab, Ramond, Francis, Sandford, Richard, Saneto, Russell, Soh, Calvin, Stutterd, Chloe A, Subramanian, Gopinath M, Talbot, Kevin, Thomas, Rhys H, Toro, Camilo, Touraine, Renaud, Wakeling, Emma, Wassmer, Evangeline, Whitney, Andrea, Livingston, John H, O'Keefe, Raymond T, Badrock, Andrew P

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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus by Sy, Mary R., Chauhan, Jaynee, Prescott, Katrina, Imam, Aliza, Kraus, Alison, Beleza, Ana, Salkeld, Lee, Hosdurga, Saraswati, Parker, Michael, Vasudevan, Pradeep, Islam, Lily, Goel, Himanshu, Bain, Nicole, Park, Soo‐Mi, Mohammed, Shehla, Dieterich, Klaus, Coutton, Charles, Satre, Véronique, Vieville, Gaëlle, Donaldson, Alan, Beneteau, Claire, Ghoumid, Jamal, Van Den Bogaert, Kris, Boogaerts, Anneleen, Boudry, Elise, Vanlerberghe, Clémence, Petit, Florence, Bernardini, Laura, Torres, Barbara, Mattina, Teresa, Carli, Diana, Mandrile, Giorgia, Pinelli, Michele, Brunetti‐Pierri, Nicola, Neas, Katherine, Beddow, Rachel, Tørring, Pernille M., Faletra, Flavio, Spedicati, Beatrice, Gasparini, Paolo, Mussa, Alessandro, Ferrero, Giovanni Battista, Lampe, Anne, Lam, Wayne, Bi, Weimin, Bacino, Carlos A., Kuwahara, Akela, Bush, Jeffrey O., Zhao, Xiaonan, Luna, Pamela N., Shaw, Chad A., Rosenfeld, Jill A., Scott, Daryl A.

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Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy by Klöckner, Chiara, Sticht, Heinrich, Zacher, Pia, Popp, Bernt, Babcock, Holly E., Bakker, Dewi P., Barwick, Katy, Bonfert, Michaela V., Bönnemann, Carsten G., Brilstra, Eva H., Chung, Wendy K., Clarke, Angus J., Devine, Patrick, Donkervoort, Sandra, Fraser, Jamie L., Friedman, Jennifer, Gates, Alyssa, Ghoumid, Jamal, Hobson, Emma, Horvath, Gabriella, Keller-Ramey, Jennifer, Keren, Boris, Kurian, Manju A., Lee, Virgina, Leppig, Kathleen A., Lundgren, Johan, McDonald, Marie T., McLaughlin, Heather M., McTague, Amy, Mefford, Heather C., Mignot, Cyril, Mikati, Mohamad A., Nava, Caroline, Raymond, F. Lucy, Sampson, Julian R., Sanchis-Juan, Alba, Shashi, Vandana, Shieh, Joseph T.C., Shinawi, Marwan, Slavotinek, Anne, Stödberg, Tommy, Stong, Nicholas, Sullivan, Jennifer A., Taylor, Ashley C., Toler, Tomi L., van den Boogaard, Marie-José, van der Crabben, Saskia N., van Gassen, Koen L.I., van Jaarsveld, Richard H., Van Ziffle, Jessica, Wadley, Alexandrea F., Wagner, Matias, Wigby, Kristen, Wortmann, Saskia B., Zarate, Yuri A., Møller, Rikke S., Lemke, Johannes R., Platzer, Konrad

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The CHD4-related syndrome: a comprehensive investigation of theclinical spectrum, genotype–phenotype correlations, and molecular basis by 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, Avni, Santani, 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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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype by Smol, T., Petit, F., Piton, A., Keren, B., Sanlaville, D., Afenjar, A., Baker, S., Bedoukian, E. C., Bhoj, E. J., Bonneau, D., Boudry-Labis, E., Bouquillon, S., Boute-Benejean, O., Caumes, R., Chatron, N., Colson, C., Coubes, C., Coutton, C., Devillard, F., Dieux-Coeslier, A., Doco-Fenzy, M., Ewans, L. J., Faivre, L., Fassi, E., Field, M., Fournier, C., Francannet, C., Genevieve, D., Giurgea, I., Goldenberg, A., Green, A. K., Guerrot, A. M., Heron, D., Isidor, B., Keena, B. A., Krock, B. L., Kuentz, P., Lapi, E., Le Meur, N., Lesca, G., Li, D., Marey, I., Mignot, C., Nava, C., Nesbitt, A., Nicolas, G., Roche-Lestienne, C., Roscioli, T., Satre, V., Santani, A., Stefanova, M., Steinwall Larsen, S., Saugier-Veber, P., Picker-Minh, S., Thuillier, C., Verloes, A., Vieville, G., Wenzel, M., Willems, M., Whalen, S., Zarate, Y. A., Ziegler, A., Manouvrier-Hanu, S., Kalscheuer, V. M., Gerard, B., Ghoumid, Jamal

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The different clinical facets of SYN1 -related neurodevelopmental disorders by Parenti, Ilaria, Leitão, Elsa, Kuechler, Alma, Villard, Laurent, Goizet, Cyril, Courdier, Cécile, Bayat, Allan, Rossi, Alessandra, Julia, Sophie, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Nambot, Sophie, Lehalle, Daphné, Willems, Marjolaine, Lespinasse, James, Ghoumid, Jamal, Caumes, Roseline, Smol, Thomas, El Chehadeh, Salima, Schaefer, Elise, Abi-Warde, Marie-Thérèse, Keren, Boris, Afenjar, Alexandra, Tabet, Anne-Claude, Levy, Jonathan, Maruani, Anna, Aledo-Serrano, Ángel, Garming, Waltraud, Milleret-Pignot, Clara, Chassevent, Anna, Koopmans, Marije, Verbeek, Nienke E, Person, Richard, Belles, Rebecca, Bellus, Gary, Salbert, Bonnie A, Kaiser, Frank J, Mazzola, Laure, Convers, Philippe, Perrin, Laurine, Piton, Amélie, Wiegand, Gert, Accogli, Andrea, Brancati, Francesco, Benfenati, Fabio, Chatron, Nicolas, Lewis-Smith, David, Thomas, Rhys H, Zara, Federico, Striano, Pasquale, Lesca, Gaetan, Depienne, Christel

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