Confirmation of spondylo‐epi‐metaphyseal dysplasia with joint laxity, EXOC6B type von Campos‐Xavier, Belinda, Rogers, R. Curtis, Niel‐Bütschi, Florence, Ferreira, Catarina, Unger, Sheila, Spranger, Jürgen, Superti‐Furga, Andrea

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Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability von Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie-Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gerard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume

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Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy von Kumps, Camille, Buetschi, Florence Niel, Rapin, Blandine, Baud, David, Pescia, Graziano, Robyr, Daniel, Superti-Furga, Andrea, Unger, Sheila

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Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved von Lam, Jenny, Stoppa-Vaucher, Sophie, Antoniou, Maria Cristina, Bouthors, Thérèse, Ruiz, Inge, Sekarski, Nicole, Rutz, Tobias, Fries, Sophie, Binz, Pierre Alain, Bütschi, Florence Niel, Vulliemoz, Nicolas, Gawlik, Aneta, Pitteloud, Nelly, Hauschild, Michael, Busiah, Kanetee

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CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures von Royer‐Bertrand, Beryl, Cisarova, Katarina, Niel Bütschi, Florence, Foletti, Giovanni, Guinchat, Vincent, Tran, Christel, Superti‐Furga, Andrea, Good, Jean‐Marc

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[R74W;R1070W;D1270N]: A new complex allele responsible for cystic fibrosis von de Prada Merino, Ana, Bütschi, Florence Niel, Bouchardy, Isabelle, Beckmann, Jacques S, Morris, Michael A, Hafen, Gaudenz M, Fellmann, Florence

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Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator von Allou, Lila, Balzano, Sara, Magg, Andreas, Quinodoz, Mathieu, Royer-Bertrand, Beryl, Schöpflin, Robert, Chan, Wing-Lee, Speck-Martins, Carlos E., Carvalho, Daniel Rocha, Farage, Luciano, Lourenço, Charles Marques, Albuquerque, Regina, Rajagopal, Srilakshmi, Nampoothiri, Sheela, Campos-Xavier, Belinda, Chiesa, Carole, Niel-Bütschi, Florence, Wittler, Lars, Timmermann, Bernd, Spielmann, Malte, Robson, Michael I., Ringel, Alessa, Heinrich, Verena, Cova, Giulia, Andrey, Guillaume, Prada-Medina, Cesar A., Pescini-Gobert, Rosanna, Unger, Sheila, Bonafé, Luisa, Grote, Phillip, Rivolta, Carlo, Mundlos, Stefan, Superti-Furga, Andrea

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The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs von Loviglio, Maria Nicla, Arbogast, Thomas, Jønch, Aia Elise, Collins, Stephan C., Popadin, Konstantin, Bonnet, Camille S., Giannuzzi, Giuliana, Maillard, Anne M., Jacquemont, Sébastien, Loviglio, Maria Nicla, Jønch, Aia Elise, Popadin, Konstantin, Giannuzzi, Giuliana, Maillard, Anne M., Fagerberg, Christina, Andersen, Charlotte Brasch, Doco-Fenzy, Martine, Delrue, Marie-Ange, Faivre, Laurence, Arveiler, Benoit, Geneviève, David, Schneider, Anouck, Gerard, Marion, Andrieux, Joris, El Chehadeh, Salima, Schaefer, Elise, Depienne, Christel, Van Haelst, Mieke, Brilstra, Eva H., Van Binsbergen, Ellen, van Harssel, Jeske, van der Veken, Lars T., Gusella, James F., Shen, Yiping, Mitchell, Elyse, Kini, Usha, Hawkes, Lara, Campbell, Carolyn, Butschi, Florence Niel, Addor, Marie-Claude, Beckmann, Jacques S., Jacquemont, Sébastien, Reymond, Alexandre, Yalcin, Binnaz, Katsanis, Nicholas, Golzio, Christelle, Reymond, Alexandre

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Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability von Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie-Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gerard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume

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16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn von Zufferey, Flore, Martinet, Danielle, Osterheld, Maria-Chiara, Niel-Bütschi, Florence, Giannoni, Eric, Schmutz, Nathalie Besuchet, Xia, Zhilian, Beckmann, Jacques S, Shaw-Smith, Charles, Stankiewicz, Pawel, Langston, Claire, Fellmann, Florence

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CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations von Royer-Bertrand, Beryl, Cisarova, Katarina, Niel-Butschi, Florence, Mittaz-Crettol, Laureane, Fodstad, Heidi, Superti-Furga, Andrea

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16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridation (array CGH) in persistent pulmonary hypertension of the newborn von Zufferey, Flore, Martinet, Danielle, Osterheld, Maria-Chiara, Niel-Bütschi, Florence, Giannoni, Eric, Besuchet, Schmutz Nathalie, Beckmann, Jacques S., Xia, Zhilian, Shaw-Smith, Charles, Stankiewicz, Pawel, Langston, Claire, Fellmann, Florence

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Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations von Niel-Butschi, Florence, Kantelip, Bernadette, Iwaszkiewicz, Justyna, Zoete, Vincent, Boimard, Mathieu, Delpech, Marc, Bourges, Jean-Louis, Renard, Gilles, D'Hermies, François, Pisella, Pierre-Jean, Hamel, Christian, Delbosc, Bernard, Valleix, Sophie

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