ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome von Ghoumid, Jamal, Drevillon, Loïc, Alavi-Naini, Seyedeh Maryam, Bondurand, Nadège, Rio, Marlène, Briand-Suleau, Audrey, Nasser, Mayssa, Goodwin, Linda, Raymond, Patrick, Yanicostas, Constantin, Goossens, Michel, Lyonnet, Stanislas, Mowat, David, Amiel, Jeanne, Soussi-Yanicostas, Nadia, Giurgea, Irina

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Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum von Whalen, Sandra, Héron, Delphine, Gaillon, Thierry, Moldovan, Oana, Rossi, Massimiliano, Devillard, Françoise, Giuliano, Fabienne, Soares, Gabriela, Mathieu-Dramard, Michelle, Afenjar, Alexandra, Charles, Perrine, Mignot, Cyril, Burglen, Lydie, Van Maldergem, Lionel, Piard, Juliette, Aftimos, Salim, Mancini, Grazia, Dias, Patricia, Philip, Nicole, Goldenberg, Alice, Le Merrer, Martine, Rio, Marlène, Josifova, Dragana, Van Hagen, Johanna Maria, Lacombe, Didier, Edery, Patrick, Dupuis-Girod, Sophie, Putoux, Audrey, Sanlaville, Damien, Fischer, Richard, Drévillon, Loïc, Briand-Suleau, Audrey, Metay, Corinne, Goossens, Michel, Amiel, Jeanne, Jacquette, Aurelia, Giurgea, Irina

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iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells von Mouka, Aurélie, Arkoun, Brahim, Moison, Pauline, Drévillon, Loïc, Jarray, Rafika, Brisset, Sophie, Mayeur, Anne, Bouligand, Jérôme, Boland-Auge, Anne, Deleuze, Jean-François, Yates, Frank, Lemonnier, Thomas, Callier, Patrick, Duffourd, Yannis, Nitschke, Patrick, Ollivier, Emmanuelle, Bourdin, Arnaud, De Vos, John, Livera, Gabriel, Tachdjian, Gérard, Maouche-Chrétien, Leïla, Tosca, Lucie

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In Vitro Gamete Differentiation from Pluripotent Stem Cells as a Promising Therapy for Infertility von Mouka, Aurélie, Tachdjian, Gérard, Dupont, Joëlle, Drévillon, Loïc, Tosca, Lucie

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Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia von Boisson, Marie, Cordier, Anne‐Gael, Martinovic, Jelena, Receveur, Aline, Mouka, Aurélie, Diot, Romain, Egoroff, Catherine, Esnault, Geoffroy, Drévillon, Loïc, Benachi, Alexandra, Tachdjian, Gérard, Tosca, Lucie

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COMMD1-mediated ubiquitination regulates CFTR trafficking von Drévillon, Loïc, Tanguy, Gaëlle, Hinzpeter, Alexandre, Arous, Nicole, de Becdelièvre, Alix, Aissat, Abdel, Tarze, Agathe, Goossens, Michel, Fanen, Pascale

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Induced pluripotent stem cell generation from a man carrying a complex chromosomal rearrangement as a genetic model for infertility studies von Mouka, Aurélie, Izard, Vincent, Tachdjian, Gérard, Brisset, Sophie, Yates, Frank, Mayeur, Anne, Drévillon, Loïc, Jarray, Rafika, Leboulch, Philippe, Maouche-Chrétien, Leila, Tosca, Lucie

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Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C von Tosca, Lucie, Drévillon, Loïc, Mouka, Aurélie, Lecerf, Laure, Briand, Audrey, Ortonne, Valérie, Benoit, Virginie, Brisset, Sophie, Van Maldergem, Lionel, Laudouar, Quitterie, Heide, Solveig, Goossens, Michel, Giurgea, Irina, Tachdjian, Gérard, Métay, Corinne

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First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome von Huynh, Minh-Tuan, Tosca, Lucie, Petit, François, Martinovic, Jelena, Proust, Alexis, Bouligand, Jérôme, Amiel, Jeanne, Azria, Elie, Parisot, Frédéric, Benoit, Virginie, Receveur, Aline, Drévillon, Loïc, Tachdjian, Gérard, Brisset, Sophie

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COMMD1 modulates noxious inflammation in cystic fibrosis von de Becdelièvre, Alix, Rocca, Jérémy, Aissat, Abdel, Drévillon, Loic, Moutereau, Stéphane, Le Gouvello, Sabine, Hinzpeter, Alexandre, Tarze, Agathe, Fanen, Pascale

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Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly von Tachdjian, Gérard, Brisset, Sophie, Drévillon, Loïc, Métay, Corinne, Saada, Julien, Martinovic, Jelena, Tosca, Lucie, Naud, Marie-Emmanuelle, Benoit, Virginie

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CSN5 binds to misfolded CFTR and promotes its degradation von Tanguy, Gaëlle, Drévillon, Loïc, Arous, Nicole, Hasnain, Afia, Hinzpeter, Alexandre, Fritsch, Janine, Goossens, Michel, Fanen, Pascale

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KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome von Drévillon, Loïc, Megarbane, André, Demeer, Bénédicte, Matar, Corine, Benit, Paule, Briand-Suleau, Audrey, Bodereau, Virginie, Ghoumid, Jamal, Nasser, Mayssa, Decrouy, Xavier, Doco-Fenzy, Martine, Rustin, Pierre, Gaillard, Dominique, Goossens, Michel, Giurgea, Irina

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Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly von Naud, Marie-Emmanuelle, Tosca, Lucie, Martinovic, Jelena, Saada, Julien, Métay, Corinne, Drévillon, Loïc, Benoit, Virginie, Brisset, Sophie, Tachdjian, Gérard

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First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome von Huynh, Minh-Tuan, Tosca, Lucie, Petit, François, Martinovic, Jelena, Proust, Alexis, Bouligand, Jérôme, Amiel, Jeanne, Azria, Elie, Parisot, Frédéric, Benoit, Virginie, Receveur, Aline, Drévillon, Loïc, Tachdjian, Gérard, Brisset, Sophie

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