PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome von Nevado, Julián, Rosenfeld, Jill A, Mena, Rocío, Palomares-Bralo, María, Vallespín, Elena, Ángeles Mori, María, Tenorio, Jair A, Gripp, Karen W, Denenberg, Elizabeth, Del Campo, Miguel, Plaja, Alberto, Martín-Arenas, Rubén, Santos-Simarro, Fernando, Armengol, Lluis, Gowans, Gordon, Orera, María, Sanchez-Hombre, M Carmen, Corbacho-Fernández, Esther, Fernández-Jaén, Alberto, Haldeman-Englert, Chad, Saitta, Sulagna, Dubbs, Holly, Bénédicte, Duban B, Li, Xia, Devaney, Lani, Dinulos, Mary Beth, Vallee, Stephanie, Crespo, M Carmen, Fernández, Blanca, Fernández-Montaño, Victoria E, Rueda-Arenas, Inmaculada, de Torres, María Luisa, Ellison, Jay W, Raskin, Salmo, Venegas-Vega, Carlos A, Fernández-Ramírez, Fernando, Delicado, Alicia, García-Miñaúr, Sixto, Lapunzina, Pablo

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Identification of two novel loss‐of‐function SIM1 mutations in two overweight children with developmental delay von Montagne, Louise, Raimondo, Anne, Delobel, Bruno, Duban‐Bedu, Bénédicte, Noblet, Fanny Stutzmann, Dechaume, Aurélie, Bersten, David C., Meyre, David, Whitelaw, Murray L., Froguel, Philippe, Bonnefond, Amélie

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15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients von Vanlerberghe, Clémence, Petit, Florence, Malan, Valérie, Vincent-Delorme, Catherine, Bouquillon, Sonia, Boute, Odile, Holder-Espinasse, Muriel, Delobel, Bruno, Duban, Bénédicte, Vallee, Louis, Cuisset, Jean-Marie, Lemaitre, Marie-Pierre, Vantyghem, Marie-Christine, Pigeyre, Marie, Lanco-Dosen, Sandrine, Plessis, Ghislaine, Gerard, Marion, Decamp, Matthieu, Mathieu, Michèle, Morin, Gilles, Jedraszak, Guillaume, Bilan, Frédéric, Gilbert-Dussardier, Brigitte, Fauvert, Delphine, Roume, Joëlle, Cormier-Daire, Valérie, Caumes, Roseline, Puechberty, Jacques, Genevieve, David, Sarda, Pierre, Pinson, Lucie, Blanchet, Patricia, Lemeur, Nathalie, Sheth, Frenny, Manouvrier-Hanu, Sylvie, Andrieux, Joris

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19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference von 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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WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion von Huynh, Minh Tuan, Boudry‐Labis, Elise, Duban, Bénédicte, Andrieux, Joris, Tran, Cong Toai, Tampere, Heidi, Ceraso, Delphine, Manouvrier, Sylvie, Tachdjian, Gérard, Roche‐Lestienne, Catherine, Vincent‐Delorme, Catherine

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A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome von Huynh, Minh-Tuan, Boudry-Labis, Elise, Massard, Alfred, Thuillier, Caroline, Delobel, Bruno, Duban-Bedu, Bénédicte, Vincent-Delorme, Catherine

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Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications von Wolfe, Kate, McQuillin, Andrew, Alesi, Viola, Boudry Labis, Elise, Cutajar, Peter, Dallapiccola, Bruno, Dentici, Maria Lisa, Dieux‐Coeslier, Anne, Duban‐Bedu, Benedicte, Duelund Hjortshøj, Tina, Goel, Himanshu, Loddo, Sara, Morrogh, Deborah, Mosca‐Boidron, Anne‐Laure, Novelli, Antonio, Olivier‐Faivre, Laurence, Parker, Jennifer, Parker, Michael J., Patch, Christine, Pelling, Anna L., Smol, Thomas, Tümer, Zeynep, Vanakker, Olivier, van Haeringen, Arie, Vanlerberghe, Clémence, Strydom, Andre, Skuse, David, Bass, Nick

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Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study von Jouret, Guillaume, Heide, Solveig, Sorlin, Arthur, Faivre, Laurence, Chantot‐Bastaraud, Sandra, Beneteau, Claire, Denis‐Musquer, Marie, Turnpenny, Peter D., Coutton, Charles, Vieville, Gaëlle, Thevenon, Julien, Larson, Austin, Petit, Florence, Boudry, Elise, Smol, Thomas, Delobel, Bruno, Duban‐Bedu, Bénédicte, Fallerini, Chiara, Mari, Francesca, Lo Rizzo, Caterina, Renieri, Alessandra, Caberg, Jean‐Hubert, Denommé‐Pichon, Anne‐Sophie, Tran Mau‐Them, Frédéric, Maystadt, Isabelle, Courtin, Thomas, Keren, Boris, Mouthon, Linda, Charles, Perrine, Cuinat, Silvestre, Isidor, Bertrand, Theis, Philippe, Müller, Christian, Kulisic, Marizela, Türkmen, Seval, Stieber, Daniel, Bourgeois, Dominique, Scalais, Emmanuel, Klink, Barbara

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Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication von Smol, Thomas, Thuillier, Caroline, Boudry-Labis, Elise, Dieux-Coeslier, Anne, Duban-Bedu, Bénédicte, Caumes, Roseline, Bouquillon, Sonia, Manouvrier-Hanu, Sylvie, Roche-Lestienne, Catherine, Ghoumid, Jamal

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TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons von Caubit, Xavier, Gubellini, Paolo, Andrieux, Joris, Roubertoux, Pierre L, Metwaly, Mehdi, Jacq, Bernard, Fatmi, Ahmed, Had-Aissouni, Laurence, Kwan, Kenneth Y, Salin, Pascal, Carlier, Michèle, Liedén, Agne, Rudd, Eva, Shinawi, Marwan, Vincent-Delorme, Catherine, Cuisset, Jean-Marie, Lemaitre, Marie-Pierre, Abderrehamane, Fatimetou, Duban, Bénédicte, Lemaitre, Jean-François, Woolf, Adrian S, Bockenhauer, Detlef, Severac, Dany, Dubois, Emeric, Zhu, Ying, Sestan, Nenad, Garratt, Alistair N, Kerkerian-Le Goff, Lydia, Fasano, Laurent

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Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate von Breckpot, Jeroen, Anderlid, Britt-Marie, Alanay, Yasemin, Blyth, Moira, Brahimi, Afane, Duban-Bedu, Bénédicte, Gozé, Odile, Firth, Helen, Yakicier, Mustafa Cengiz, Hens, Greet, Rayyan, Maissa, Legius, Eric, Vermeesch, Joris Robert, Devriendt, Koen

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MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus von Blanchet, Patricia, Bebin, Martina, Bruet, Shaam, Cooper, Gregory M, Thompson, Michelle L, Duban-Bedu, Benedicte, Gerard, Benedicte, Piton, Amelie, Suckno, Sylvie, Deshpande, Charu, Clowes, Virginia, Vogt, Julie, Turnpenny, Peter, Williamson, Michael P, Alembik, Yves, Glasgow, Eric, McNeill, Alisdair

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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders von Zufferey, Flore, Sherr, Elliott H, Beckmann, Noam D, Hanson, Ellen, Maillard, Anne M, Hippolyte, Loyse, Macé, Aurélien, Ferrari, Carina, Kutalik, Zoltán, Andrieux, Joris, Aylward, Elizabeth, Barker, Mandy, Bernier, Raphael, Bouquillon, Sonia, Conus, Philippe, Delobel, Bruno, Faucett, W Andrew, Goin-Kochel, Robin P, Grant, Ellen, Harewood, Louise, Hunter, Jill V, Lebon, Sébastien, Ledbetter, David H, Martin, Christa Lese, Männik, Katrin, Martinet, Danielle, Mukherjee, Pratik, Ramocki, Melissa B, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Spiro, John E, Reymond, Alexandre, Beckmann, Jacques S, Chung, Wendy K, Jacquemont, Sébastien

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Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases von Schluth-Bolard, Caroline, Delobel, Bruno, Sanlaville, Damien, Boute, Odile, Cuisset, Jean-Marie, Sukno, Sylvie, Labalme, Audrey, Duban-Bedu, Bénédicte, Plessis, Ghislaine, Jaillard, Sylvie, Dubourg, Christèle, Henry, Catherine, Lucas, Josette, Odent, Sylvie, Pasquier, Laurent, Copin, Henri, Latour, Philippe, Cordier, Marie-Pierre, Nadeau, Gwenaël, Till, Marianne, Edery, Patrick, Andrieux, Joris

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Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature von Nizon, Mathilde, Andrieux, Joris, Rooryck, Caroline, de Blois, Marie-Christine, Bourel-Ponchel, Emilie, Bourgois, Béatrice, Boute, Odile, David, Albert, Delobel, Bruno, Duban-Bedu, Bénédicte, Giuliano, Fabienne, Goldenberg, Alice, Grotto, Sarah, Héron, Delphine, Karmous-Benailly, Houda, Keren, Boris, Lacombe, Didier, Lapierre, Jean-Michel, Le Caignec, Cédric, Le Galloudec, Eric, Le Merrer, Martine, Le Moing, Anne-Gaëlle, Mathieu-Dramard, Michèle, Nusbaum, Sylvie, Pichon, Olivier, Pinson, Lucile, Raoul, Odile, Rio, Marlène, Romana, Serge, Roubertie, Agnès, Colleaux, Laurence, Turleau, Catherine, Vekemans, Michel, Nabbout, Rima, Malan, Valérie

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Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnos... von Moradkhani, Kamran, Cuisset, Laurence, Boisseau, Pierre, Pichon, Olivier, Lebrun, Marine, Hamdi‐Rozé, Houda, Maurin, Marie‐Laure, Gruchy, Nicolas, Manca‐Pellissier, Marie‐Christine, Malzac, Perrine, Bilan, Frédéric, Audrezet, Marie‐Pierre, Saugier‐Veber, Pascale, Fauret‐Amsellem, Anne‐Laure, Missirian, Chantal, Kuentz, Paul, Egea, Gregory, Guichet, Agnès, Creveaux, Isabelle, Janel, Caroline, Harzallah, Ines, Touraine, Renaud, Goumy, Carole, Joyé, Nicole, Puechberty, Jacques, Haquet, Emmanuelle, Chantot‐Bastaraud, Sandra, Schmitt, Sébastien, Gosset, Philippe, Duban‐Bedu, Bénédicte, Delobel, Bruno, Vago, Philippe, Vialard, François, Gomes, Denise Molina, Siffroi, Jean‐Pierre, Bonnefont, Jean‐Paul, Dupont, Jean‐Michel, Jonveaux, Philippe, Doco‐Fenzy, Martine, Sanlaville, Damien, Le Caignec, Cédric

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High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients von Rooryck, Caroline, Morice-Picard, Fanny, Lasseaux, Eulalie, Cailley, Dorothée, Dollfus, Hélène, Defoort-Dhellemme, Sabine, Duban-Bedu, Bénédicte, de Ravel, Thomy J. L, Taieb, Alain, Lacombe, Didier, Arveiler, Benoît

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A 5.3 Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay von Bouquillon, Sonia, Andrieux, Joris, Landais, Emilie, Duban-Bedu, Bénédicte, Boidein, Françoise, Lenne, Bruno, Vallée, Louis, Leal, Teresinha, Doco-Fenzy, Martine, Delobel, Bruno

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Genotype–phenotype analysis of 18q12.1-q12.2 copy number variation in autism von Wang, Peter, Carrion, Prescilla, Qiao, Ying, Tyson, Christine, Hrynchak, Monica, Calli, Kristina, Lopez-Rangel, Elena, Andrieux, Joris, Delobel, Bruno, Duban-Bedu, Bénédicte, Thuresson, Ann-Charlotte, Annerén, Göran, Liu, Xudong, Rajcan-Separovic, Evica, Suzanne Lewis, M.E

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TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons von Caubit , Xavier, Gubellini , Paolo, Andrieux , Joris, Roubertoux , Pierre L, Metwaly , Mehdi, Jacq , Bernard, Fatmi , Ahmed, Had-Aissouni , Laurence, Kwan , Kenneth Y, Salin , Pascal, Carlier , Michèle, Liedén , Agne, Rudd , Eva, Shinawi , Marwan, Vincent-Delorme , Catherine, Cuisset , Jean-Marie, Lemaitre , Marie-Pierre, Fatimetou , Abderrehamane, Duban , Bénédicte, Lemaitre , Jean-François, Woolf, Adrian S, Bockenhauer , Detlef, Severac , Dany, Dubois, Emeric, Zhu, Ying, Sestan , Nenad, Garratt , Alistair N, Kerkerian-Le Goff , Lydia, Fasano, Laurent

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