Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability von Tran Mau-Them, Frederic, Willems, Marjolaine, Albrecht, Beate, Sanchez, Elodie, Puechberty, Jacques, Endele, Sabine, Schneider, Anouck, Ruiz Pallares, Nathalie, Missirian, Chantal, Rivier, Francois, Girard, Manon, Holder, Muriel, Manouvrier, Sylvie, Touitou, Isabelle, Lefort, Genevieve, Sarda, Pierre, Moncla, Anne, Drunat, Severine, Wieczorek, Dagmar, Genevieve, David

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Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review von Pellestor, Franck, Ph.D, Gatinois, Vincent, Pharm.D, Puechberty, Jacques, M.D, Geneviève, David, M.D, Lefort, Geneviève, M.D

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Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study von Ravel, Jean-Marie, Renaud, Mathilde, Muller, Jean, Becker, Aurélie, Renard, Émeline, Remen, Thomas, Lefort, Geneviève, Dexheimer, Mylène, Jonveaux, Philippe, Leheup, Bruno, Bonnet, Céline, Lambert, Laëtitia

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Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes von Doco-Fenzy, Martine, Leroy, Camille, Schneider, Anouck, Petit, Florence, Delrue, Marie-Ange, Andrieux, Joris, Perrin-Sabourin, Laurence, Landais, Emilie, Aboura, Azzedine, Puechberty, Jacques, Girard, Manon, Tournaire, Magali, Sanchez, Elodie, Rooryck, Caroline, Ameil, Agnès, Goossens, Michel, Jonveaux, Philippe, Lefort, Geneviève, Taine, Laurence, Cailley, Dorothée, Gaillard, Dominique, Leheup, Bruno, Sarda, Pierre, Geneviève, David

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Putative founder effect of Arg338 AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families von Becker, Aurélie, Felici, Charlotte, Lambert, Laëtitia, Saint Martin, Anne, Abi‐Warde, Marie‐Thérèse, Schaefer, Elise, Zix, Christian, Zamani, Mina, Sadeghian, Saeid, Zeighami, Jawaher, Seifi, Tahereh, Azizimalamiri, Reza, Shariati, Gholamreza, Galehdari, Hamid, Selig, Mareike, Ding, Can, Duerinckx, Sarah, Pirson, Isabelle, Abramowicz, Marc, Clément, Guillemette, Leheup, Bruno, Jonveaux, Philippe, Lefort, Geneviève, Bronner, Myriam, Renaud, Mathilde, Bonnet, Céline

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Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier von Pellestor, Franck, Ph.D, Puechberty, Jacques, M.D, Weise, Anja, Ph.D, Lefort, Geneviève, M.D, Anahory, Tal, M.D, Liehr, Thomas, M.D, Sarda, Pierre, M.D

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Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations von Gatinois, Vincent, Bigi, Nicole, Mousty, Eve, Chiesa, Jean, Musizzano, Yuri, Schneider, Anouck, Lefort, Geneviève, Pinson, Lucile, Gaillard, Jean‐Baptiste, Ragon, Clémence, Perez, Marie‐Josée, Tournaire, Magali, Blanchet, Patricia, Corsini, Carole, Haquet, Emmanuelle, Callier, Patrick, Geneviève, David, Pellestor, Franck, Puechberty, Jacques

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CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome von Pinson, Lucile, Mannini, Linda, Willems, Marjolaine, Cucco, Francesco, Sirvent, Nicolas, Frebourg, Thierry, Quarantotti, Valentina, Collet, Corinne, Schneider, Anouck, Sarda, Pierre, Geneviève, David, Puechberty, Jacques, Lefort, Geneviève, Musio, Antonio

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Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay von AMOUROUX, Cyril, VINCENT, Marie, SARDA, Pierre, LEFORT, Geneviève, GENEVIEVE, David, BLANCHET, Patricia, PUECHBERTY, Jacques, SCHNEIDER, Anouck, CHAZE, Anne Marie, GIRARD, Manon, TOURNAIRE, Magali, JORGENSEN, Christian, MORIN, Denis

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Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling von Corsini, Carole, Gencik, Martin, Willems, Marjolaine, Decker, Eva, Sanchez, Elodie, Puechberty, Jacques, Schneider, Anouck, Girard, Manon, Edery, Patrick, Bretonnes, Patricia, Cottalorda, Jérôme, Lefort, Geneviève, Jeandel, Claire, Sarda, Pierre, Genevieve, David

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Chromothripsis, an unexpected novel form of complexity for chromosomal rearrangements von Pellestor, Franck, Gatinois, Vincent, Puechberty, Jacques, Geneviève, David, Lefort, Geneviève

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Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity von Tran Mau-Them, Frédéric, Boualam, Aurélia, Barat-Houari, Mouna, Jeandel, Claire, Cottalorda, Jérôme, Cormier-Daire, Valérie, Fabre, Aurélie, Dumont, Bruno, Lefort, Geneviève, Baujat, Geneviève, Le Merrer, Martine, Jorgensen, Christian, Touitou, Isabelle, Geneviève, David

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Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome) von Roubertie, Agathe, Semprino, Marcos, Chaze, Anne Marie, Rivier, François, Humbertclaude, Véronique, Cheminal, Renée, Lefort, Geneviève, Echenne, Bernard

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Complex chromosomal rearrangements: a paradigm for the study of chromosomal instability von Gatinois, Vincent, Puechberty, Jacques, Lefort, Geneviève, Geneviève, David, Pellestor, Franck

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Prader-Willi syndrome: is there a recognizable fetal phenotype? von Bigi, Nicole, Faure, Jean-Michel, Coubes, Christine, Puechberty, Jacques, Lefort, Geneviève, Sarda, Pierre, Blanchet, Patricia

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Study of the occurrence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridization and primed in-situ labelling technique... von Pellestor, Franck, Imbert, Isabelle, Andréo, Brigitte, Lefort, Geneviève

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Cytogenetic and molecular study of a jumping translocation in a baby with Dandy-Walker malformation von LEFORT, GENEVIÈVE, BLANCHET, PATRICIA, CHAZE, ANNE MARIE, GIRARDET, ANNE, SARDA, PIERRE, DEMAILLE, JACQUES, PELLESTOR, FRANCK

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The chromothripsis: An unsuspected form of extreme complexity of chromosomal rearrangements von Pellestor, Franck, Gatinois, Vincent, Puechberty, Jacques, Genevieve, David, Lefort, Genevieve

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Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations von Gatinois, Vincent, Bigi, Nicole, Mousty, Eve, Chiesa, Jean, Musizzano, Yuri, Schneider, Anouck, Lefort, Genevieve, Pinson, Lucile, Gaillard, Jean-Baptiste, Ragon, Clemence, Perez, Marie-Josee, Tournaire, Magali, Blanchet, Patricia, Corsini, Carole, Haquet, Emmanuelle, Callier, Patrick, Genevieve, David, Pellestor, Franck, Puechberty, Jacques

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Partial Epilepsy and 47,XXX Karyotype: Report of Four Cases von Roubertie, Agathe, Humbertclaude, Véronique, Leydet, Julie, Lefort, Geneviève, Echenne, Bernard

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