Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis von Nambot, Sophie, Thevenon, Julien, Kuentz, Paul, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Lehalle, Daphné, Jean-Marçais, Nolwenn, Lefebvre, Mathilde, Vabres, Pierre, El Chehadeh-Djebbar, Salima, Philippe, Christophe, Tran Mau-Them, Frederic, St-Onge, Judith, Jouan, Thibaud, Chevarin, Martin, Poé, Charlotte, Carmignac, Virginie, Vitobello, Antonio, Callier, Patrick, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel

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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea von Bauché, Stéphanie, O’Regan, Seana, Azuma, Yoshiteru, Laffargue, Fanny, McMacken, Grace, Sternberg, Damien, Brochier, Guy, Buon, Céline, Bouzidi, Nassima, Topf, Ana, Lacène, Emmanuelle, Remerand, Ganaelle, Beaufrere, Anne-Marie, Pebrel-Richard, Céline, Thevenon, Julien, El Chehadeh-Djebbar, Salima, Faivre, Laurence, Duffourd, Yannis, Ricci, Federica, Mongini, Tiziana, Fiorillo, Chiara, Astrea, Guja, Burloiu, Carmen Magdalena, Butoianu, Niculina, Sandu, Carmen, Servais, Laurent, Bonne, Gisèle, Nelson, Isabelle, Desguerre, Isabelle, Nougues, Marie-Christine, Bœuf, Benoit, Romero, Norma, Laporte, Jocelyn, Boland, Anne, Lechner, Doris, Deleuze, Jean-François, Fontaine, Bertrand, Strochlic, Laure, Lochmuller, Hanns, Eymard, Bruno, Mayer, Michèle, Nicole, Sophie

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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome von Alby, Caroline, Piquand, Kevin, Huber, Céline, Megarbané, André, Ichkou, Amale, Legendre, Marine, Pelluard, Fanny, Encha-Ravazi, Ferechté, Abi-Tayeh, Georges, Bessières, Bettina, El Chehadeh-Djebbar, Salima, Laurent, Nicole, Faivre, Laurence, Sztriha, László, Zombor, Melinda, Szabó, Hajnalka, Failler, Marion, Garfa-Traore, Meriem, Bole, Christine, Nitschké, Patrick, Nizon, Mathilde, Elkhartoufi, Nadia, Clerget-Darpoux, Françoise, Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel, Saunier, Sophie, Cormier-Daire, Valérie, Attié-Bitach, Tania, Thomas, Sophie

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Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia von Duplomb, Laurence, Rivière, Julie, Jego, Gaëtan, Da Costa, Romain, Hammann, Arlette, Racine, Jessica, Schmitt, Alain, Droin, Nathalie, Capron, Claude, Gougerot-Pocidalo, Marie-Anne, Dubrez, Laurence, Aral, Bernard, Lafon, Arnaud, Edery, Patrick, Ghoumid, Jamal, Blair, Edward, El Chehadeh-Djebbar, Salima, Carmignac, Virginie, Thevenon, Julien, Guy, Julien, Girodon, François, Bastie, Jean-Noël, Delva, Laurent, Faivre, Laurence, Thauvin-Robinet, Christel, Solary, Eric

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Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome von Limoge, Floriane, Faivre, Laurence, Gautier, Thomas, Petit, Jean-Michel, Gautier, Elodie, Masson, David, Jego, Gaëtan, El Chehadeh-Djebbar, Salima, Marle, Nathalie, Carmignac, Virginie, Deckert, Valérie, Brindisi, Marie-Claude, Edery, Patrick, Ghoumid, Jamal, Blair, Edward, Lagrost, Laurent, Thauvin-Robinet, Christel, Duplomb, Laurence

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Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis von El Chehadeh-Djebbar, Salima, Blair, Edward, Holder-Espinasse, Muriel, Moncla, Anne, Frances, Anne-Marie, Rio, Marlène, Debray, François-Guillaume, Rump, Patrick, Masurel-Paulet, Alice, Gigot, Nadège, Callier, Patrick, Duplomb, Laurence, Aral, Bernard, Huet, Frédéric, Thauvin-Robinet, Christel, Faivre, Laurence

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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome von Alby, Caroline, Piquand, Kevin, Huber, Céline, Megarbané, André, Ichkou, Amale, Legendre, Marine, Pelluard, Fanny, Encha-Ravazi, Ferechté, Abi-Tayeh, Georges, Bessières, Bettina, El Chehadeh-Djebbar, Salima, Laurent, Nicole, Faivre, Laurence, Sztriha, László, Zombor, Melinda, Szabó, Hajnalka, Failler, Marion, Garfa-Traore, Meriem, Bole, Christine, Nitschké, Patrick, Nizon, Mathilde, Elkhartoufi, Nadia, Clerget-Darpoux, Françoise, Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel, Saunier, Sophie, Cormier-Daire, Valérie, Attié-Bitach, Tania, Thomas, Sophie

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The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome von El Chehadeh-Djebbar, Salima, Faivre, Laurence, Moncla, Anne, Aral, Bernard, Missirian, Chantal, Popovici, Cornel, Rump, Patrick, Van Essen, Anthonie, Frances, Anne-Marie, Gigot, Nadège, Cusin, Veronica, Masurel-Paulet, Alice, Gueneau, Lucie, Payet, Muriel, Ragon, Clémence, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Huet, Frédéric, Balikova, Irina, Teyssier, Jean-Raymond, Mugneret, Francine, Thauvin-Robinet, Christel, Callier, Patrick

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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation von Basilicata, M. Felicia, Bruel, Ange-Line, Semplicio, Giuseppe, Valsecchi, Claudia Isabelle Keller, Aktaş, Tuğçe, Duffourd, Yannis, Rumpf, Tobias, Morton, Jenny, Bache, Iben, Szymanski, Witold G., Gilissen, Christian, Vanakker, Olivier, Õunap, Katrin, Mittler, Gerhard, van der Burgt, Ineke, El Chehadeh, Salima, Cho, Megan T., Pfundt, Rolph, Tan, Tiong Yang, Kirchhoff, Maria, Menten, Björn, Vergult, Sarah, Lindstrom, Kristin, Reis, André, Johnson, Diana S., Fryer, Alan, McKay, Victoria, Fisher, Richard B., Thauvin-Robinet, Christel, Francis, David, Roscioli, Tony, Pajusalu, Sander, Radtke, Kelly, Ganesh, Jaya, Brunner, Han G., Wilson, Meredith, Faivre, Laurence, Kalscheuer, Vera M., Thevenon, Julien, Akhtar, Asifa

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Cohen syndrome is associated with major glycosylation defects von Duplomb, Laurence, Duvet, Sandrine, Picot, Damien, Jego, Gaëtan, El Chehadeh-Djebbar, Salima, Marle, Nathalie, Gigot, Nadège, Aral, Bernard, Carmignac, Virginie, Thevenon, Julien, Lopez, Estelle, Rivière, Jean-Baptiste, Klein, André, Philippe, Christophe, Droin, Nathalie, Blair, Edward, Girodon, François, Donadieu, Jean, Bellanné-Chantelot, Christine, Delva, Laurent, Michalski, Jean-Claude, Solary, Eric, Faivre, Laurence, Foulquier, François, Thauvin-Robinet, Christel

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Exploration de familles non-résolues avec déficience intellectuelle présumée liée à l’X à l’ère du Whole Genome Sequencing von Djebbar El Chehadeh, Salima

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Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses von Bourchany, Aurélie, Thauvin-Robinet, Christel, Lehalle, Daphné, Bruel, Ange-Line, Masurel-Paulet, Alice, Jean, Nolwenn, Nambot, Sophie, Willems, Marjorie, Lambert, Laetitia, El Chehadeh-Djebbar, Salima, Schaefer, Elise, Jaquette, Aurélia, St-Onge, Judith, Poe, Charlotte, Jouan, Thibaud, Chevarin, Martin, Callier, Patrick, Mosca-Boidron, Anne-Laure, Laurent, Nicole, Lefebvre, Mathilde, Huet, Frédéric, Houcinat, Nada, Moutton, Sébastien, Philippe, Christophe, Tran-Mau-Them, Frédéric, Vitobello, Antonio, Kuentz, Paul, Duffourd, Yannis, Rivière, Jean-Baptiste, Thevenon, Julien, Faivre, Laurence

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17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome von El Chehadeh-Djebbar, Salima, Callier, Patrick, Masurel-Paulet, Alice, Bensignor, Candace, Méjean, Nathalie, Payet, Muriel, Ragon, Clémence, Durand, Christine, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Huet, Frédéric, Mugneret, Francine, Faivre, Laurence, Thauvin-Robinet, Christel

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