Mutation update for the GPC3 gene involved in Simpson‐Golabi‐Behmel syndrome and review of the literature by Vuillaume, Marie‐Laure, Moizard, Marie‐Pierre, Rossignol, Sylvie, Cottereau, Edouard, Vonwill, Sandrine, Alessandri, Jean‐Luc, Busa, Tiffany, Colin, Estelle, Gérard, Marion, Giuliano, Fabienne, Lambert, Laetitia, Lefevre, Mathilde, Kotecha, Udhaya, Nampoothiri, Sheela, Netchine, Irène, Raynaud, Martine, Brioude, Frédéric, Toutain, Annick

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Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder by Halewa, Judith, Marouillat, Sylviane, Dixneuf, Manon, Thépault, Rose‐Anne, Ung, Dévina C., Chatron, Nicolas, Gérard, Bénédicte, Ghoumid, Jamal, Lesca, Gaëtan, Till, Marianne, Smol, Thomas, Couque, Nathalie, Ruaud, Lyse, Chune, Valérie, Grotto, Sarah, Verloes, Alain, Vuillaume, Marie‐Laure, Toutain, Annick, Raynaud, Martine, Laumonnier, Frédéric

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Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders by Abdelfattah, Fatima, Kariminejad, Ariana, Kahlert, Anne‐Karin, Morrison, Patrick J., Gumus, Evren, Mathews, Katherine D., Darbro, Benjamin W., Amor, David J., Walsh, Maie, Sznajer, Yves, Weiß, Luisa, Weidensee, Sabine, Chitayat, David, Shannon, Patrick, Bermejo‐Sánchez, Eva, Riaño‐Galán, Isolina, Hayes, Ian, Poke, Gemma, Rooryck, Caroline, Pennamen, Perrine, Khung‐Savatovsky, Suonavy, Toutain, Annick, Vuillaume, Marie‐Laure, Ghaderi‐Sohi, Siavash, Kariminejad, Mohamad H., Weinert, Sönke, Sticht, Heinrich, Zenker, Martin, Schanze, Denny

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A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett‐like phenotype by Vuillaume, Marie‐Laure, Jeanne, Médéric, Xue, Li, Blesson, Sophie, Denommé‐Pichon, Anne‐Sophie, Alirol, Servane, Brulard, Céline, Colin, Estelle, Isidor, Bertrand, Gilbert‐Dussardier, Brigitte, Odent, Sylvie, Parent, Philippe, Donnart, Audrey, Redon, Richard, Bézieau, Stéphane, Rondard, Philippe, Laumonnier, Frédéric, Toutain, Annick

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CUGC for Simpson-Golabi-Behmel syndrome (SGBS) by Vuillaume, Marie-Laure, Moizard, Marie-Pierre, Baumer, Alessandra, Cottereau, Edouard, Brioude, Frédéric, Rauch, Anita, Toutain, Annick

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Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth by Jeanne, Médéric, Vuillaume, Marie-Laure, Ung, Dévina C., Vancollie, Valerie E., Wagner, Christel, Collins, Stephan C., Vonwill, Sandrine, Haye, Damien, Chelloug, Nora, Pfundt, Rolph, Kummeling, Joost, Moizard, Marie-Pierre, Marouillat, Sylviane, Kleefstra, Tjitske, Yalcin, Binnaz, Laumonnier, Frédéric, Toutain, Annick

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Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature by Vuillaume, Marie‐Laure, Moizard, Marie‐Pierre, Rossignol, Sylvie, Cottereau, Edouard, Vonwill, Sandrine, Alessandri, Jean‐Luc, Busa, Tiffany, Colin, Estelle, Gérard, Marion, Giuliano, Fabienne, Lambert, Laetitia, Lefevre, Mathilde, Kotecha, Udhaya, Nampoothiri, Sheela, Netchine, Irène, Raynaud, Martine, Brioude, Frédéric, Toutain, Annick

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Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster by Le Caignec, Cédric, Pichon, Olivier, Briand, Annaig, de Courtivron, Benoît, Bonnard, Christian, Lindenbaum, Pierre, Redon, Richard, Schluth-Bolard, Caroline, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Sanchez-Castro, Marta, Vuillaume, Marie-Laure, Sanlaville, Damien, Duboule, Denis, Mégarbané, André, Toutain, Annick

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Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum by Moutton, Sébastien, Fergelot, Patricia, Naudion, Sophie, Cordier, Marie-Pierre, Solé, Guilhem, Guerineau, Elodie, Hubert, Christophe, Rooryck, Caroline, Vuillaume, Marie-Laure, Houcinat, Nada, Deforges, Julie, Bouron, Julie, Devès, Sylvie, Le Merrer, Martine, David, Albert, Geneviève, David, Giuliano, Fabienne, Journel, Hubert, Megarbane, André, Faivre, Laurence, Chassaing, Nicolas, Francannet, Christine, Sarrazin, Elisabeth, Stattin, Eva-Lena, Vigneron, Jacqueline, Leclair, Danielle, Abadie, Caroline, Sarda, Pierre, Baumann, Clarisse, Delrue, Marie-Ange, Arveiler, Benoit, Lacombe, Didier, Goizet, Cyril, Coupry, Isabelle

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New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity by Vuillaume, Marie-Laure, Naudion, Sophie, Banneau, Guillaume, Diene, Gwenaelle, Cartault, Audrey, Cailley, Dorothée, Bouron, Julie, Toutain, Jérôme, Bourrouillou, Georges, Vigouroux, Adeline, Bouneau, Laurence, Nacka, Fabienne, Kieffer, Isabelle, Arveiler, Benoit, Knoll-Gellida, Anja, Babin, Patrick J., Bieth, Eric, Jouret, Béatrice, Julia, Sophie, Sarda, Pierre, Geneviève, David, Faivre, Laurence, Lacombe, Didier, Barat, Pascal, Tauber, Maithé, Delrue, Marie-Ange, Rooryck, Caroline

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Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders by Bitar, Tania, Hleihel, Walid, Marouillat, Sylviane, Vonwill, Sandrine, Vuillaume, Marie‐Laure, Soufia, Michel, Vourc'h, Patrick, Laumonnier, Frederic, Andres, Christian R.

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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities by Jeanne, Médéric, Demory, Hélène, Moutal, Aubin, Vuillaume, Marie-Laure, Blesson, Sophie, Thépault, Rose-Anne, Marouillat, Sylviane, Halewa, Judith, Maas, Saskia M., Motazacker, M. Mahdi, Mancini, Grazia M.S., van Slegtenhorst, Marjon A., Andreou, Avgi, Cox, Helene, Vogt, Julie, Laufman, Jason, Kostandyan, Natella, Babikyan, Davit, Hancarova, Miroslava, Bendova, Sarka, Sedlacek, Zdenek, Aldinger, Kimberly A., Sherr, Elliott H., Argilli, Emanuela, England, Eleina M., Audebert-Bellanger, Séverine, Bonneau, Dominique, Colin, Estelle, Denommé-Pichon, Anne-Sophie, Gilbert-Dussardier, Brigitte, Isidor, Bertrand, Küry, Sébastien, Odent, Sylvie, Redon, Richard, Khanna, Rajesh, Dobyns, William B., Bézieau, Stéphane, Honnorat, Jérôme, Lohkamp, Bernhard, Toutain, Annick, Laumonnier, Frédéric

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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals by Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Traeger Synodinos, Joanne, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, L E Guyader, Gwenaël, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, Bryant, Laura M

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Post hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability by Delaye, Jean-Baptiste, Patin, Franck, Lagrue, Emmanuelle, Le Tilly, Olivier, Bruno, Clement, Vuillaume, Marie-Laure, Raynaud, Martine, Benz-De Bretagne, Isabelle, Laumonnier, Frederic, Vourc’h, Patrick, Andres, Christian, Blasco, Helene

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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance by Cordovado, Amélie, Schaettin, Martina, Jeanne, Médéric, Panasenkava, Veranika, Denommé-Pichon, Anne-Sophie, Keren, Boris, Mignot, Cyril, Doco-Fenzy, Martine, Rodan, Lance, Ramsey, Keri, Narayanan, Vinodh, Jones, Julie R, Prijoles, Eloise J, Mitchell, Wendy G, Ozmore, Jillian R, Juliette, Kali, Torti, Erin, Normand, Elizabeth A, Granger, Leslie, Petersen, Andrea K, Au, Margaret G, Matheny, Juliann P, Phornphutkul, Chanika, Chambers, Mary-Kathryn, Fernández-Ramos, Joaquín-Alejandro, López-Laso, Eduardo, Kruer, Michael C, Bakhtiari, Somayeh, Zollino, Marcella, Morleo, Manuela, Marangi, Giuseppe, Mei, Davide, Pisano, Tiziana, Guerrini, Renzo, Louie, Raymond J, Childers, Anna, Everman, David B, Isidor, Betrand, Audebert-Bellanger, Séverine, Odent, Sylvie, Bonneau, Dominique, Gilbert-Dussardier, Brigitte, Redon, Richard, Bézieau, Stéphane, Laumonnier, Frédéric, Stoeckli, Esther T, Toutain, Annick, Vuillaume, Marie-Laure

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19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference by Trimouille, Aurélien, Houcinat, Nada, Vuillaume, Marie-Laure, Fergelot, Patricia, Boucher, Cécile, Toutain, Jérôme, Caignec, Cédric Le, Vincent, Marie, Nizon, Mathilde, Andrieux, Joris, Vanlerberghe, Clémence, Delobel, Bruno, Duban, Bénédicte, Mansour, Sahar, Baple, Emma, McKeown, Colina, Poke, Gemma, Robertshaw, Kate, Fifield, Eve, Fabretto, Antonella, Pecile, Vanna, Gasparini, Paolo, Carrozzi, Marco, Lacombe, Didier, Arveiler, Benoît, Rooryck, Caroline, Moutton, Sébastien

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A framework to identify contributing genes in patients with Phelan-McDermid syndrome by Tabet, Anne-Claude, Rolland, Thomas, Ducloy, Marie, Lévy, Jonathan, Buratti, Julien, Mathieu, Alexandre, Haye, Damien, Perrin, Laurence, Dupont, Céline, Passemard, Sandrine, Capri, Yline, Verloes, Alain, Drunat, Séverine, Keren, Boris, Mignot, Cyril, Marey, Isabelle, Jacquette, Aurélia, Whalen, Sandra, Pipiras, Eva, Benzacken, Brigitte, Chantot-Bastaraud, Sandra, Afenjar, Alexandra, Héron, Delphine, Le Caignec, Cédric, Beneteau, Claire, Pichon, Olivier, Isidor, Bertrand, David, Albert, El Khattabi, Laila, Kemeny, Stephan, Gouas, Laetitia, Vago, Philippe, Mosca-Boidron, Anne-Laure, Faivre, Laurence, Missirian, Chantal, Philip, Nicole, Sanlaville, Damien, Edery, Patrick, Satre, Véronique, Coutton, Charles, Devillard, Françoise, Dieterich, Klaus, Vuillaume, Marie-Laure, Rooryck, Caroline, Lacombe, Didier, Pinson, Lucile, Gatinois, Vincent, Puechberty, Jacques, Chiesa, Jean, Lespinasse, James, Dubourg, Christèle, Quelin, Chloé, Fradin, Mélanie, Journel, Hubert, Toutain, Annick, Martin, Dominique, Benmansour, Abdelamdjid, Leblond, Claire S, Toro, Roberto, Amsellem, Frédérique, Delorme, Richard, Bourgeron, Thomas

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Early fetal presentation of Koolen-de Vries: Case report with literature review by Sauvestre, Fanny, Marguet, Florent, Rooryck, Caroline, Vuillaume, Marie-Laure, Cardinaud, Frédéric, Laquerrière, Annie, André, Gwenaëlle, Pelluard, Fanny

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SCA27 is a cause of early-onset ataxia and developmental delay by Planes, Marc, Rooryck, Caroline, Vuillaume, Marie-Laure, Besnard, Lucie, Bouron, Julie, Lacombe, Didier, Arveiler, Benoit, Goizet, Cyril

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Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication by Vuillaume, Marie-Laure, Delrue, Marie-Ange, Naudion, Sophie, Toutain, Jérôme, Fergelot, Patricia, Arveiler, Benoit, Lacombe, Didier, Rooryck, Caroline

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