Exome sequencing of extreme phenotypes in bronchopulmonary dysplasia von Hadchouel, Alice, Decobert, Fabrice, Besmond, Claude, Delacourt, Christophe

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Mutations in BOREALIN cause thyroid dysgenesis von Carré, Aurore, Stoupa, Athanasia, Kariyawasam, Dulanjalee, Gueriouz, Manelle, Ramond, Cyrille, Monus, Taylor, Léger, Juliane, Gaujoux, Sébastien, Sebag, Frédéric, Glaser, Nicolas, Zenaty, Delphine, Nitschke, Patrick, Bole-Feysot, Christine, Hubert, Laurence, Lyonnet, Stanislas, Scharfmann, Raphaël, Munnich, Arnold, Besmond, Claude, Taylor, William, Polak, Michel

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TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology von Stoupa, Athanasia, Adam, Frédéric, Kariyawasam, Dulanjalee, Strassel, Catherine, Gawade, Sanjay, Szinnai, Gabor, Kauskot, Alexandre, Lasne, Dominique, Janke, Carsten, Natarajan, Kathiresan, Schmitt, Alain, Bole‐Feysot, Christine, Nitschke, Patrick, Léger, Juliane, Jabot‐Hanin, Fabienne, Tores, Frédéric, Michel, Anita, Munnich, Arnold, Besmond, Claude, Scharfmann, Raphaël, Lanza, François, Borgel, Delphine, Polak, Michel, Carré, Aurore

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Biallelic IARS2 mutations presenting as sideroblastic anemia von Barcia, Giulia, Pandithan, Dinusha, Ruzzenente, Benedetta, Assouline, Zahra, Pennisi, Alessandra, Besmond, Claude, Roux, Charles-Joris, Boddaert, Nathalie, Desguerre, Isabelle, Thorburn, David R., Bratkovic, Drago, Munnich, Arnold, Bonnefont, Jean-Paul, Rotig, Agnes, Steffann, Julie

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Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder von Munnich, Arnold, Demily, Caroline, Frugère, Lisa, Duwime, Charlyne, Malan, Valérie, Barcia, Giulia, Vidal, Céline, Throo, Emeline, Besmond, Claude, Hubert, Laurence, Roland-Manuel, Gilles, Malen, Jean-Pierre, Ferreri, Mélanie, Hanein, Sylvain, Thalabard, Jean-Christophe, Boddaert, Nathalie, Assouline, Moïse

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Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions von Clément-Ziza, Mathieu, Munnich, Arnold, Lyonnet, Stanislas, Jaubert, Francis, Besmond, Claude

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Evaluation of methods for amplification of picogram amounts of total RNA for whole genome expression profiling von Clément-Ziza, Mathieu, Gentien, David, Lyonnet, Stanislas, Thiery, Jean-Paul, Besmond, Claude, Decraene, Charles

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PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review von Mercati, Oriane, Abi Warde, Marie-Thérèse, Lina-Granade, Geneviève, Rio, Marlène, Heide, Solveig, de Lonlay, Pascale, Ceballos-Picot, Irène, Robert, Matthieu P., Couloigner, Vincent, Beltrand, Jacques, Boddaert, Nathalie, Rodriguez, Diana, Rubinato, Elisa, Lapierre, Jean-Michel, Merlette, Christophe, Sanquer, Sylvia, Rötig, Agnès, Prokisch, Holger, Lyonnet, Stanislas, Loundon, Natalie, Kaplan, Josseline, Bonnefont, Jean-Paul, Munnich, Arnold, Besmond, Claude, Jonard, Laurence, Marlin, Sandrine

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Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease von Thompson, Kyle, Bianchi, Lucas, Rastelli, Francesca, Piron-Prunier, Florence, Ayciriex, Sophie, Besmond, Claude, Hubert, Laurence, Barth, Magalie, Barbosa, Inês A., Deshpande, Charu, Chitre, Manali, Mehta, Sarju G., Wever, Eric J.M., Marcorelles, Pascale, Donkervoort, Sandra, Saade, Dimah, Bönnemann, Carsten G., Chao, Katherine R., Cai, Chunyu, Iannaccone, Susan T., Dean, Andrew F., McFarland, Robert, Vaz, Frédéric M., Delahodde, Agnès, Taylor, Robert W., Rötig, Agnès

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CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy von Poirier, Karine, Hubert, Laurence, Viot, Géraldine, Rio, Marlène, Billuart, Pierre, Besmond, Claude, Bienvenu, Thierry

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Mutations in the novel gene FOPV are associated with familial autosomal dominant and non‐familial obliterative portal venopathy von Besmond, Claude, Valla, Dominique, Hubert, Laurence, Poirier, Karine, Grosse, Brigitte, Guettier, Catherine, Bernard, Olivier, Gonzales, Emmanuel, Jacquemin, Emmanuel

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Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders von Wang, Huilun H, Lin, Liangguang L, Li, Zexin J, Wei, Xiaoqiong, Askander, Omar, Cappuccio, Gerarda, Hashem, Mais O, Hubert, Laurence, Munnich, Arnold, Alqahtani, Mashael, Pang, Qi, Burmeister, Margit, Lu, You, Poirier, Karine, Besmond, Claude, Sun, Shengyi, Brunetti-Pierri, Nicola, Alkuraya, Fowzan S, Qi, Ling

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Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal von Barcia, Giulia, Scorrano, Giovanna, Rio, Marlène, Gitiaux, Cyril, Hully, Marie, Poirier, Karine, Besmond, Claude, Munnich, Arnold, Boddaert, Nathalie, Chemaly, Nicole, Nabbout, Rima

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Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue von Raynor, Alexandre, Vincent-Delorme, Catherine, Alaix, Anne-Sophie, Cholet, Sophie, Dupré, Thierry, Vuillaumier-Barrot, Sandrine, Fenaille, François, Besmond, Claude, Bruneel, Arnaud

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Somatic mosaicism for SLC1A1 mutation supports threshold effect and familial aggregation in schizophrenia spectrum disorders von Demily, Caroline, Hubert, Laurence, Franck, Nicolas, Poisson, Alice, Munnich, Arnold, Besmond, Claude

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Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy von Metodiev, Metodi Dimitrov, Gerber, Sylvie, Hubert, Laurence, Delahodde, Agnès, Chretien, Dominique, Gérard, Xavier, Amati-Bonneau, Patrizia, Giacomotto, Marie-Christine, Boddaert, Nathalie, Kaminska, Anna, Desguerre, Isabelle, Amiel, Jeanne, Rio, Marlène, Kaplan, Josseline, Munnich, Arnold, Rötig, Agnès, Rozet, Jean Michel, Besmond, Claude

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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability von Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yannis, LeBlanc, Pontus, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M., Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J., Lyons, Michael J., Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, McConkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R., Mitani, Tadahiro, Posey, Jennifer E., Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A., Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R., Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, Vitobello, Antonio

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Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies von Xu, Mingchu, Xie, Yajing (Angela), Abouzeid, Hana, Gordon, Christopher T., Fiorentino, Alessia, Sun, Zixi, Lehman, Anna, Osman, Ihab S., Dharmat, Rachayata, Riveiro-Alvarez, Rosa, Bapst-Wicht, Linda, Babino, Darwin, Arno, Gavin, Busetto, Virginia, Zhao, Li, Li, Hui, Lopez-Martinez, Miguel A., Azevedo, Liliana F., Hubert, Laurence, Pontikos, Nikolas, Eblimit, Aiden, Lorda-Sanchez, Isabel, Kheir, Valeria, Plagnol, Vincent, Oufadem, Myriam, Soens, Zachry T., Yang, Lizhu, Bole-Feysot, Christine, Pfundt, Rolph, Allaman-Pillet, Nathalie, Nitschké, Patrick, Cheetham, Michael E., Lyonnet, Stanislas, Agrawal, Smriti A., Li, Huajin, Pinton, Gaëtan, Michaelides, Michel, Besmond, Claude, Li, Yumei, Yuan, Zhisheng, von Lintig, Johannes, Webster, Andrew R., Le Hir, Hervé, Stoilov, Peter, Black, Graeme, Hall, Georgina, Gillespie, Rachel, Ramsden, Simon, Manson, Forbes, Sergouniotis, Panagiotis, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Poulter, James, Lord, Emma, Nemeth, Andrea, Halford, Stephanie, Downes, Susan, Yu, Jing, Amiel, Jeanne, Hardcastle, Alison J., Ayuso, Carmen, Sui, Ruifang, Chen, Rui, Allikmets, Rando, Schorderet, Daniel F.

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Developmental and epilepsy spectrum ofKCNB1encephalopathy with long-term outcome von Bar, Claire, Kuchenbuch, Mathieu, Barcia, Giulia, Schneider, Amy, Jennesson, Melanie, Le Guyader, Gwenael, Lesca, Gaetan, Mignot, Cyril, Montomoli, Martino, Parrini, Elena, Isnard, Herve, Rolland, Anne, Keren, Boris, Afenjar, Alexandra, Dorison, Nathalie, Sadleir, Lynette G., Breuillard, Delphine, Levy, Raphael, Rio, Marlene, Dupont, Sophie, Negrin, Susanna, Danieli, Alberto, Scalais, Emmanuel, De Saint Martin, Anne, El Chehadeh, Salima, Chelly, Jamel, Poisson, Alice, Lebre, Anne-Sophie, Nica, Anca, Odent, Sylvie, Sekhara, Tayeb, Brankovic, Vesna, Goldenberg, Alice, Vrielynck, Pascal, Lederer, Damien, Maurey, Helene, Terrone, Gaetano, Besmond, Claude, Hubert, Laurence, Berquin, Patrick, Billette de Villemeur, Thierry, Isidor, Bertrand, Freeman, Jeremy L., Mefford, Heather C., Myers, Candace T., Howell, Katherine B., Rodriguez-Sacristan Cascajo, Andres, Meyer, Pierre, Genevieve, David, Guet, Agnes, Doummar, Diane, Durigneux, Julien, van Dooren, Marieke F., de Wit, Marie Claire Y., Gerard, Marion, Marey, Isabelle, Munnich, Arnold, Guerrini, Renzo, Scheffer, Ingrid E., Kabashi, Edor, Nabbout, Rima

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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients von Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel

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