Torthaí cuardaigh - Capri, Yline

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2 de réir Letard, Pascaline, Schepers, Dorien, Albuisson, Juliette, Bruneval, Patrick, Spaggiari, Emmanuel, Van de Beek, Gerarda, Khung-Savatovsky, Suonavy, Belarbi, Nadia, Capri, Yline, Delezoide, Anne-Lise, Loeys, Bart, Guimiot, Fabien

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Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants de réir Bouchereau, Juliette, Barrot, Sandrine Vuillaumier, Dupré, Thierry, Moore, Stuart E. H., Cardas, Ruxandra, Capri, Yline, Gaignard, Pauline, Slama, Abdelhamid, Delanoë, Catherine, Ogier de Baulny, Hélène, Seta, Nathalie, Schiff, Manuel, Servais, Laurent

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Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene de réir Saugier-Veber, Pascale, Marguet, Florent, Lecoquierre, François, Adle-Biassette, Homa, Guimiot, Fabien, Cipriani, Sara, Patrier, Sophie, Brasseur-Daudruy, Marie, Goldenberg, Alice, Layet, Valérie, Capri, Yline, Gérard, Marion, Frébourg, Thierry, Laquerrière, Annie

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The mutation spectrum in RECQL4 diseases de réir Siitonen, H Annika, Sotkasiira, Jenni, Biervliet, Martine, Benmansour, Abdelmadjid, Capri, Yline, Cormier-Daire, Valerie, Crandall, Barbara, Hannula-Jouppi, Katariina, Hennekam, Raoul, Herzog, Denise, Keymolen, Kathelijn, Lipsanen-Nyman, Marita, Miny, Peter, Plon, Sharon E, Riedl, Stefan, Sarkar, Ajoy, Vargas, Fernando R, Verloes, Alain, Wang, Lisa L, Kääriäinen, Helena, Kestilä, Marjo

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Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis de réir Mary, Laura, Piton, Amélie, Schaefer, Elise, Mattioli, Francesca, Nourisson, Elsa, Feger, Claire, Redin, Claire, Barth, Magali, El Chehadeh, Salima, Colin, Estelle, Coubes, Christine, Faivre, Laurence, Flori, Elisabeth, Geneviève, David, Capri, Yline, Perrin, Laurence, Fabre-Teste, Jennifer, Timbolschi, Dana, Verloes, Alain, Olaso, Robert, Boland, Anne, Deleuze, Jean-François, Mandel, Jean-Louis, Gerard, Bénédicte, Giurgea, Irina

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Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia de réir Michot, Caroline, Le Goff, Carine, Blair, Edward, Blanchet, Patricia, Capri, Yline, Gilbert-Dussardier, Brigitte, Goldenberg, Alice, Henderson, Alex, Isidor, Bertrand, Kayserili, Hulya, Kinning, Esther, Le Merrer, Martine, Lyonnet, Stanislas, Odent, Sylvie, Simsek-Kiper, Pelin Ozlem, Quelin, Chloé, Savarirayan, Ravi, Simon, Marleen, Splitt, Miranda, Verhagen, Judith M.A., Verloes, Alain, Munnich, Arnold, Baujat, Geneviève, Cormier-Daire, Valérie

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Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications de réir Lissewski, Christina, Chune, Valérie, Pantaleoni, Francesca, De Luca, Alessandro, Capri, Yline, Brinkmann, Julia, Lepri, Francesca, Daniele, Paola, Leenders, Erika, Mazzanti, Laura, Scarano, Emanuela, Radio, Francesca Clementina, Kutsche, Kerstin, Kuechler, Alma, Gérard, Marion, Ranguin, Kara, Legendre, Marine, Vial, Yoann, van der Burgt, Ineke, Rinne, Tuula, Andreucci, Elena, Mastromoro, Gioia, Digilio, Maria Cristina, Cave, Hélène, Tartaglia, Marco, Zenker, Martin

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Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt de réir Rouxel, Flavien, Yauy, Kevin, Boursier, Guilaine, Gatinois, Vincent, Barat-Houari, Mouna, Sanchez, Elodie, Lacombe, Didier, Arpin, Stéphanie, Giuliano, Fabienne, Haye, Damien, Rio, Marlène, Toutain, Annick, Dieterich, Klaus, Brischoux-Boucher, Elise, Julia, Sophie, Nizon, Mathilde, Afenjar, Alexandra, Keren, Boris, Jacquette, Aurelia, Moutton, Sebastien, Jacquemont, Marie-Line, Duflos, Claire, Capri, Yline, Amiel, Jeanne, Blanchet, Patricia, Lyonnet, Stanislas, Sanlaville, Damien, Genevieve, David

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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation de réir Grampa, Valentina, Delous, Marion, Zaidan, Mohamad, Odye, Gweltas, Thomas, Sophie, Elkhartoufi, Nadia, Filhol, Emilie, Niel, Olivier, Silbermann, Flora, Lebreton, Corinne, Collardeau-Frachon, Sophie, Rouvet, Isabelle, Alessandri, Jean-Luc, Devisme, Louise, Dieux-Coeslier, Anne, Cordier, Marie-Pierre, Capri, Yline, Khung-Savatovsky, Suonavy, Sigaudy, Sabine, Salomon, Rémi, Antignac, Corinne, Gubler, Marie-Claire, Benmerah, Alexandre, Terzi, Fabiola, Attié-Bitach, Tania, Jeanpierre, Cécile, Saunier, Sophie

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Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing de réir Taillandier, Agnès, Domingues, Christelle, De Cazanove, Clémence, Porquet-Bordes, Valérie, Monnot, Sophie, Kiffer-Moreira, Tina, Rothenbuhler, Agnès, Guggenbuhl, Pascal, Cormier, Catherine, Baujat, Geneviève, Debiais, Françoise, Capri, Yline, Cohen-Solal, Martine, Parent, Philippe, Chiesa, Jean, Dieux, Anne, Petit, Florence, Roume, Joelle, Isnard, Monica, Cormier-Daire, Valérie, Linglart, Agnès, Millán, José Luis, Salles, Jean-Pierre, Muti, Christine, Simon-Bouy, Brigitte, Mornet, Etienne

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Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study de réir Forde, Claire, Burkitt-Wright, Emma, Turnpenny, Peter D., Haan, Eric, Ealing, John, Mansour, Sahar, Holder, Muriel, Lahiri, Nayana, Dixit, Abhijit, Procter, Annie, Pacot, Laurence, Vidaud, Dominique, Capri, Yline, Gerard, Marion, Dollfus, Hélène, Schaefer, Elise, Quelin, Chloé, Sigaudy, Sabine, Busa, Tiffany, Vera, Gabriella, Damaj, Lena, Messiaen, Ludwine, Stevenson, David A., Davies, Peter, Palmer-Smith, Sheila, Callaway, Alison, Wolkenstein, Pierre, Pasmant, Eric, Upadhyaya, Meena

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Mitchell–Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations de réir Passone, Caroline de Gouveia Buff, Vermillac, Gaëlle, Staels, Willem, Besancon, Alix, Kariyawasam, Dulanjalee, Godot, Cécile, Lambe, Cécile, Talbotec, Cécile, Girard, Muriel, Chardot, Christophe, Berteloot, Laureline, Hachem, Taymme, Lapillonne, Alexandre, Poidvin, Amélie, Storey, Caroline, Neve, Mathieu, Stan, Cosmina, Dugelay, Emmanuelle, Fauret-Amsellem, Anne-Laure, Capri, Yline, Cavé, Hélène, Ybarra, Marina, Chandra, Vikash, Scharfmann, Raphaël, Bismuth, Elise, Polak, Michel, Carel, Jean Claude, Pigneur, Bénédicte, Beltrand, Jacques

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Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia de réir Cavé, Hélène, Caye, Aurélie, Ghedira, Nehla, Capri, Yline, Pouvreau, Nathalie, Fillot, Natacha, Trimouille, Aurélien, Vignal, Cédric, Fenneteau, Odile, Alembik, Yves, Alessandri, Jean-Luc, Blanchet, Patricia, Boute, Odile, Bouvagnet, Patrice, David, Albert, Dieux Coeslier, Anne, Doray, Bérénice, Dulac, Olivier, Drouin-Garraud, Valérie, Gérard, Marion, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Lyonnet, Stanislas, Perrin, Laurence, Rio, Marlène, Roume, Joëlle, Sauvion, Sylvie, Toutain, Annick, Vincent-Delorme, Catherine, Willems, Marjorie, Baumann, Clarisse, Verloes, Alain

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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature de réir Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C, Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe

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Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism de réir Kim, Hyung-Goo, Rosenfeld, Jill A., Scott, Daryl A., Bénédicte, Gerard, Labonne, Jonathan D., Brown, Jason, McGuire, Marianne, Mahida, Sonal, Naidu, Sakkubai, Gutierrez, Jacqueline, Lesca, Gaetan, des Portes, Vincent, Bruel, Ange-Line, Sorlin, Arthur, Xia, Fan, Capri, Yline, Muller, Eric, McKnight, Dianalee, Torti, Erin, Rüschendorf, Franz, Hummel, Oliver, Islam, Zeyaul, Kolatkar, Prasanna R., Layman, Lawrence C., Ryu, Duchwan, Kong, Il-Keun, Madan-Khetarpal, Suneeta, Kim, Cheol-Hee

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Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature de réir Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C, Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe

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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome de réir Capri, Yline, Flex, Elisabetta, Krumbach, Oliver H.F., Carpentieri, Giovanna, Cecchetti, Serena, Lißewski, Christina, Rezaei Adariani, Soheila, Schanze, Denny, Brinkmann, Julia, Piard, Juliette, Pantaleoni, Francesca, Lepri, Francesca R., Goh, Elaine Suk-Ying, Chong, Karen, Stieglitz, Elliot, Meyer, Julia, Kuechler, Alma, Bramswig, Nuria C., Sacharow, Stephanie, Strullu, Marion, Vial, Yoann, Vignal, Cédric, Kensah, George, Cuturilo, Goran, Kazemein Jasemi, Neda S., Dvorsky, Radovan, Monaghan, Kristin G., Vincent, Lisa M., Cavé, Hélène, Verloes, Alain, Ahmadian, Mohammad R., Tartaglia, Marco, Zenker, Martin

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Response to Hall et al. de réir Chong, Jessica X., Talbot, Jared C., Teets, Emily M., Previs, Samantha, Martin, Brit L., Shively, Kathryn M., Marvin, Colby T., Aylsworth, Arthur S., Saadeh-Haddad, Reem, Schatz, Ulrich A., Inzana, Francesca, Ben-Omran, Tawfeg, Almusafri, Fatima, Al-Mulla, Mariam, Buckingham, Kati J., Harel, Tamar, Mor-Shaked, Hagar, Radhakrishnan, Periyasamy, Girisha, Katta M., Nayak, Shalini S., Shukla, Anju, Dieterich, Klaus, Faure, Julien, Rendu, John, Capri, Yline, Latypova, Xenia, Nickerson, Deborah A., Warshaw, David, Janssen, Paul M., Amacher, Sharon L., Bamshad, Michael J.

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Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis? de réir Bourgon, Nicolas, Garde, Aurore, Bruel, Ange-Line, Lefebvre, Mathilde, Mau-Them, Frederic Tran, Moutton, Sebastien, Sorlin, Arthur, Nambot, Sophie, Delanne, Julian, Chevarin, Martin, Pöe, Charlotte, Thevenon, Julien, Lehalle, Daphné, Jean-Marçais, Nolween, Kuentz, Paul, Lambert, Laetitia, El Chehadeh, Salima, Schaefer, Elise, Willems, Marjolaine, Laffargue, Fanny, Francannet, Christine, Fradin, Mélanie, Gaillard, Dominique, Blesson, Sophie, Goldenberg, Alice, Capri, Yline, Sagot, Paul, Rousseau, Thierry, Simon, Emmanuel, Binquet, Christine, Ascencio, Marie-Laure, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Vitobello, Antonio, Thauvin-Robinet, Christel

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Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis de réir Chong, Jessica X., Talbot, Jared C., Teets, Emily M., Previs, Samantha, Martin, Brit L., Shively, Kathryn M., Marvin, Colby T., Aylsworth, Arthur S., Saadeh-Haddad, Reem, Schatz, Ulrich A., Inzana, Francesca, Ben-Omran, Tawfeg, Almusafri, Fatima, Al-Mulla, Mariam, Buckingham, Kati J., Harel, Tamar, Mor-Shaked, Hagar, Radhakrishnan, Periyasamy, Girisha, Katta M., Nayak, Shalini S., Shukla, Anju, Dieterich, Klaus, Faure, Julien, Rendu, John, Capri, Yline, Latypova, Xenia, Nickerson, Deborah A., Warshaw, David M., Janssen, Paul M.L., Amacher, Sharon L., Bamshad, Michael J.

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