Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study von 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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Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD) von Arnaud, Pauline, Hanna, Nadine, Benarroch, Louise, Aubart, Mélodie, Bal, Laurence, Bouvagnet, Patrice, Busa, Tiffany, Dulac, Yves, Dupuis-Girod, Sophie, Edouard, Thomas, Faivre, Laurence, Gouya, Laurent, Lacombe, Didier, Langeois, Maud, Leheup, Bruno, Milleron, Olivier, Naudion, Sophie, Odent, Sylvie, Tchitchinadze, Maria, Ropers, Jacques, Jondeau, Guillaume, Boileau, Catherine

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MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections von Barbier, Mathieu, Gross, Marie-Sylvie, Aubart, Mélodie, Hanna, Nadine, Kessler, Ketty, Guo, Dong-Chuan, Tosolini, Laurent, Ho-Tin-Noe, Benoit, Regalado, Ellen, Varret, Mathilde, Abifadel, Marianne, Milleron, Olivier, Odent, Sylvie, Dupuis-Girod, Sophie, Faivre, Laurence, Edouard, Thomas, Dulac, Yves, Busa, Tiffany, Gouya, Laurent, Milewicz, Dianna M., Jondeau, Guillaume, Boileau, Catherine

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Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network von Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Olaso, Robert, Ziegler, Alban, Jeanne, Médéric, Tran Mau-Them, Frédéric, Couturier, Victor, Racine, Caroline, Isidor, Bertrand, Poë, Charlotte, Jouan, Thibaud, Boland, Anne, Fin, Bertrand, Bacq-Daian, Delphine, Besse, Céline, Garde, Aurore, Prost, Adeline, Garret, Philippine, Tisserant, Émilie, Delanne, Julian, Nambot, Sophie, Juven, Aurélien, Gorce, Magali, Nizon, Mathilde, Vincent, Marie, Moutton, Sébastien, Fradin, Mélanie, Lavillaureix, Alinoë, Rollier, Paul, Capri, Yline, Van-Gils, Julien, Busa, Tiffany, Sigaudy, Sabine, Pasquier, Laurent, Barth, Magalie, Bruel, Ange-Line, Flamant, Cyril, Prouteau, Clément, Bonneau, Dominique, Toutain, Annick, Chantegret, Corinne, Callier, Patrick, Philippe, Christophe, Duffourd, Yannis, Deleuze, Jean-François, Sorlin, Arthur, Faivre, Laurence, Thauvin-Robinet, Christel

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Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations von Cárdenas-de-la-Parra, Alonso, Martin-Brevet, Sandra, Moreau, Clara, Rodriguez-Herreros, Borja, Fonov, Vladimir S., Maillard, Anne M., Zürcher, Nicole R., Addor, Marie-Claude, Andrieux, Joris, Arveiler, Benoît, Baujatm, Geneviève, Sloan-Bénan, Frédérique, Belfiore, Marco, Bonneau, Dominique, Bouquillon, Sonia, Boute, Odile, Brusco, Alfredo, Busa, Tiffany, Caberg, Jean-Hubert, Campion, Dominique, Colombert, Vanessa, Cordier, Marie-Pierre, David, Albert, Debray, François-Guillaume, Delrue, Marie-Ange, Doco-Fenzy, Martine, Dunkhase-Heinl, Ulrike, Edery, Patrick, Fagerberg, Christina, Faivre, Laurence, Forzano, Francesca, Genevieve, David, Gérard, Marion, Giachino, Daniela, Guichet, Agnès, Guillin, Olivier, Héron, Delphine, Isidor, Bertrand, Jacquette, Aurélia, Jaillard, Sylvie, Journel, Hubert, Keren, Boris, Lacombe, Didier, Lebon, Sébastien, Le Caignec, Cédric, Lemaître, Marie-Pierre, Lespinasse, James, Mathieu-Dramart, Michèle, Mercier, Sandra, Mignot, Cyril, Missirian, Chantal, Petit, Florence, Pilekær Sørensen, Kristina, Pinson, Lucile, Plessis, Ghislaine, Prieur, Fabienne, Rooryck-Thambo, Caroline, Rossi, Massimiliano, Sanlaville, Damien, Schlott Kristiansen, Britta, Schluth-Bolard, Caroline, Till, Marianne, Van Haelst, Mieke, Van Maldergem, Lionel, Hadjikhani, Nouchine, Beckmann, Jacques S., Reymond, Alexandre, Draganski, Bogdan, Jacquemont, Sébastien, Collins, D. Louis

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Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS von Zhao, Yingjie, Wang, Yujue, Shi, Lijie, McDonald-McGinn, Donna M., Crowley, T. Blaine, McGinn, Daniel E., Tran, Oanh T., Miller, Daniella, Lin, Jhih-Rong, Zackai, Elaine, Johnston, H. Richard, Chow, Eva W. C., Vorstman, Jacob A. S., Vingerhoets, Claudia, van Amelsvoort, Therese, Gothelf, Doron, Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris R., Eliez, Stephan, Schneider, Maude, van den Bree, Marianne B. M., Owen, Michael J., Kates, Wendy R., Repetto, Gabriela M., Shashi, Vandana, Schoch, Kelly, Bearden, Carrie E., Digilio, M. Cristina, Unolt, Marta, Putotto, Carolina, Marino, Bruno, Pontillo, Maria, Armando, Marco, Vicari, Stefano, Angkustsiri, Kathleen, Campbell, Linda, Busa, Tiffany, Heine-Suñer, Damian, Murphy, Kieran C., Murphy, Declan, García-Miñaúr, Sixto, Fernández, Luis, Zhang, Zhengdong D., Goldmuntz, Elizabeth, Gur, Raquel E., Emanuel, Beverly S., Zheng, Deyou, Marshall, Christian R., Bassett, Anne S., Wang, Tao, Morrow, Bernice E.

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Growth charts in Cockayne syndrome type 1 and type 2 von Baer, Sarah, Tuzin, Nicolas, Kang, Peter B., Mohammed, Shehla, Kubota, Masaya, van Ierland, Yvette, Busa, Tiffany, Rossi, Massimiliano, Morel, Godelieve, Michot, Caroline, Baujat, Geneviève, Durand, Myriam, Obringer, Cathy, Le May, Nicolas, Calmels, Nadège, Laugel, Vincent

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Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature von 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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Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature von Vuillaume, Marie-Laure, Moizard, Marie-Pierre, Rossignol, Sylvie, Cottereau, Edouard, Vonwill, Sandrine, Alessandri, Jean-Luc, Busa, Tiffany, Colin, Estelle, Gérard, Marion, Giuliano, Fabienne, Lambert, Laetitia, Lefevre, Mathilde, Kotecha, Udhaya, Nampoothiri, Sheela, Netchine, Irène, Raynaud, Martine, Brioude, Frédéric, Toutain, Annick

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Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome von Davies, Robert W., Fiksinski, Ania M., Breetvelt, Elemi J., Williams, Nigel M., Hooper, Stephen R., Monfeuga, Thomas, Bassett, Anne S., Owen, Michael J., Gur, Raquel E., Morrow, Bernice E., McDonald-McGinn, Donna M., Swillen, Ann, Chow, Eva W. C., van den Bree, Marianne, Emanuel, Beverly S., Vermeesch, Joris R., van Amelsvoort, Therese, Arango, Celso, Armando, Marco, Campbell, Linda E., Cubells, Joseph F., Eliez, Stephan, Garcia-Minaur, Sixto, Gothelf, Doron, Kates, Wendy R., Murphy, Kieran C., Murphy, Clodagh M., Murphy, Declan G., Philip, Nicole, Repetto, Gabriela M., Shashi, Vandana, Simon, Tony J., Suñer, Damiàn Heine, Vicari, Stefano, Scherer, Stephen W., Bearden, Carrie E., Vorstman, Jacob A. S.

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Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy von Lemke, Johannes R, Geider, Kirsten, Helbig, Katherine L, Heyne, Henrike O, Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S, Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A, Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L, Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J, Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J, Doherty, Emily S, Bijlsma, Emilia K, Ruivenkamp, Claudia A, Hoffer, Mariette J.V, Goldstein, Amy, Rajan, Deepa S, Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C, Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F, Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L, Laube, Bodo, Syrbe, Steffen

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Biological concepts in human sodium channel epilepsies and their relevance in clinical practice von Brunklaus, Andreas, Du, Juanjiangmeng, Steckler, Felix, Ghanty, Ismael I., Johannesen, Katrine M., Fenger, Christina Dühring, Schorge, Stephanie, Baez‐Nieto, David, Wang, Hao‐Ran, Allen, Andrew, Pan, Jen Q., Lerche, Holger, Heyne, Henrike, Symonds, Joseph D., Zuberi, Sameer M., Sanders, Stephan, Sheidley, Beth R., Craiu, Dana, Olson, Heather E., Weckhuysen, Sarah, DeJonge, Peter, Helbig, Ingo, Van Esch, Hilde, Busa, Tiffany, Milh, Matthieu, Isidor, Bertrand, Depienne, Christel, Poduri, Annapurna, Campbell, Arthur J., Dimidschstein, Jordane, Møller, Rikke S., Lal, Dennis

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Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies von Mouthon, Linda, Busa, Tiffany, Bretelle, Florence, Karmous‐Benailly, Houda, Missirian, Chantal, Philip, Nicole, Sigaudy, Sabine

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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects von Zhao, Yingjie, Diacou, Alexander, Johnston, H. Richard, Musfee, Fadi I., McDonald-McGinn, Donna M., McGinn, Daniel, Crowley, T. Blaine, Repetto, Gabriela M., Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris R., Kates, Wendy R., Digilio, M. Cristina, Unolt, Marta, Marino, Bruno, Pontillo, Maria, Armando, Marco, Di Fabio, Fabio, Vicari, Stefano, van den Bree, Marianne, Moss, Hayley, Owen, Michael J., Murphy, Kieran C., Murphy, Clodagh M., Murphy, Declan, Schoch, Kelly, Shashi, Vandana, Tassone, Flora, Simon, Tony J., Shprintzen, Robert J., Campbell, Linda, Philip, Nicole, Heine-Suñer, Damian, García-Miñaúr, Sixto, Fernández, Luis, Antonarakis, Stylianos E., Biondi, Massimo, Boot, Erik, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy, Buzzanca, Antonino, Carmel, Miri, Cleynen, Isabelle, Cutler, David, Dallapiccola, Bruno, de la Fuente Sanches, María Angeles, Epstein, Michael P., Evers, Rens, Fernandez, Luis, Fritsch, Rosemarie, Algas, Fernando García, Guo, Tingwei, Gur, Raquel, Hestand, Matthew S., Heung, Tracy, Hooper, Stephen, Jin, Andrea, Kushan-Wells, Leila, Laorden-Nieto, Alejandra Teresa, Lattanzi, Guido, Marshall, Christian, McCabe, Kathryn, Michaelovsky, Elena, Ornstein, Claudia, Silversides, Candice, Tran, Oanh, van Duin, Esther D.A., Vergaelen, Elfi, Warren, Steve T., Weinberger, Ronnie, Weizman, Abraham, Zhang, Zhengdong, Zwick, Michael, Bearden, Carrie E., Vingerhoets, Claudia, van Amelsvoort, Therese, Eliez, Stephan, Schneider, Maude, Vorstman, Jacob A.S., Gothelf, Doron, Zackai, Elaine, Agopian, A.J., Gur, Raquel E., Bassett, Anne S., Emanuel, Beverly S., Goldmuntz, Elizabeth, Mitchell, Laura E., Wang, Tao, Morrow, Bernice E.

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Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression‐burst von Mignon‐Ravix, Cécile, Milh, Mathieu, Kaiser, Charlotte Sophia, Daniel, Jens, Riccardi, Florence, Cacciagli, Pierre, Nagara, Majdi, Busa, Tiffany, Liebau, Eva, Villard, Laurent

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Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome von Geoffron, Sophie, Abi Habib, Walid, Chantot-Bastaraud, Sandra, Dubern, Béatrice, Steunou, Virginie, Azzi, Salah, Afenjar, Alexandra, Busa, Tiffanny, Pinheiro Canton, Ana, Chalouhi, Christel, Dufourg, Marie-Noëlle, Esteva, Blandine, Fradin, Mélanie, Geneviève, David, Heide, Solveig, Isidor, Bertrand, Linglart, Agnès, Morice Picard, Fanny, Naud-Saudreau, Catherine, Oliver Petit, Isabelle, Philip, Nicole, Pienkowski, Catherine, Rio, Marlène, Rossignol, Sylvie, Tauber, Maithé, Thevenon, Julien, Vu-Hong, Thuy-Ai, Harbison, Madeleine D, Salem, Jennifer, Brioude, Frédéric, Netchine, Irène, Giabicani, Eloïse

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Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome von Bassett, Anne S, Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Chow, Eva W. C, van Amelsvoort, Therese, McDonald-McGinn, Donna, Gur, Raquel E, Swillen, Ann, Van den Bree, Marianne, Murphy, Clodagh, Murphy, Kieran, Gothelf, Doron, Bearden, Carrie E, Eliez, Stephan, Kates, Wendy, Philip, Nicole, Sashi, Vandana, Campbell, Linda, Vorstman, Jacob, Cubells, Joseph, Repetto, Gabriela M, Simon, Tony, Boot, Erik, Heung, Tracy, Evers, Rens, Vingerhoets, Claudia, van Duin, Esther, Zackai, Elaine, Vergaelen, Elfi, Devriendt, Koen, Vermeesch, Joris R, Owen, Michael, Michaelovosky, Elena, Kushan, Leila, Schneider, Maude, Fremont, Wanda, Busa, Tiffany, Hooper, Stephen, McCabe, Kathryn, Duijff, Sasja, Isaev, Karin, Pellecchia, Giovanna, Wei, John, Gazzellone, Matthew J, Scherer, Stephen W, Emanuel, Beverly S, Guo, Tingwei, Morrow, Bernice E, Marshall, Christian R

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Germline AGO2 mutations impair RNA interference and human neurological development von Lessel, Davor, Zeitler, Daniela M., Reijnders, Margot R. F., Kazantsev, Andriy, Hassani Nia, Fatemeh, Bartholomäus, Alexander, Martens, Victoria, Bruckmann, Astrid, Graus, Veronika, McConkie-Rosell, Allyn, McDonald, Marie, Lozic, Bernarda, Tan, Ee-Shien, Gerkes, Erica, Johannsen, Jessika, Denecke, Jonas, Telegrafi, Aida, Zonneveld-Huijssoon, Evelien, Lemmink, Henny H., Cham, Breana W. M., Kovacevic, Tanja, Ramsdell, Linda, Foss, Kimberly, Le Duc, Diana, Mitter, Diana, Syrbe, Steffen, Merkenschlager, Andreas, Sinnema, Margje, Panis, Bianca, Lazier, Joanna, Osmond, Matthew, Hartley, Taila, Mortreux, Jeremie, Busa, Tiffany, Missirian, Chantal, Prasun, Pankaj, Lüttgen, Sabine, Mannucci, Ilaria, Lessel, Ivana, Schob, Claudia, Kindler, Stefan, Pappas, John, Rabin, Rachel, Willemsen, Marjolein, Gardeitchik, Thatjana, Löhner, Katharina, Rump, Patrick, Dias, Kerith-Rae, Evans, Carey-Anne, Andrews, Peter Ian, Roscioli, Tony, Brunner, Han G., Chijiwa, Chieko, Lewis, M. E. Suzanne, Jamra, Rami Abou, Dyment, David A., Boycott, Kym M., Stegmann, Alexander P. A., Kubisch, Christian, Tan, Ene-Choo, Mirzaa, Ghayda M., McWalter, Kirsty, Kleefstra, Tjitske, Pfundt, Rolph, Ignatova, Zoya, Meister, Gunter, Kreienkamp, Hans-Jürgen

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Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations von Fergelot, Patricia, Van Belzen, Martine, Van Gils, Julien, Afenjar, Alexandra, Armour, Christine M., Arveiler, Benoit, Beets, Lex, Burglen, Lydie, Busa, Tiffany, Collet, Marie, Deforges, Julie, de Vries, Bert B. A., Dominguez Garrido, Elena, Dorison, Nathalie, Dupont, Juliette, Francannet, Christine, Garciá-Minaúr, Sixto, Gabau Vila, Elisabeth, Gebre-Medhin, Samuel, Gener Querol, Blanca, Geneviève, David, Gérard, Marion, Gervasini, Cristina Giovanna, Goldenberg, Alice, Josifova, Dragana, Lachlan, Katherine, Maas, Saskia, Maranda, Bruno, Moilanen, Jukka S., Nordgren, Ann, Parent, Philippe, Rankin, Julia, Reardon, Willie, Rio, Marlène, Roume, Joëlle, Shaw, Adam, Smigiel, Robert, Sojo, Amaia, Solomon, Benjamin, Stembalska, Agnieszka, Stumpel, Constance, Suarez, Francisco, Terhal, Paulien, Thomas, Simon, Touraine, Renaud, Verloes, Alain, Vincent-Delorme, Catherine, Wincent, Josephine, Peters, Dorien J. M., Bartsch, Oliver, Larizza, Lidia, Lacombe, Didier, Hennekam, Raoul C.

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Endovascular treatment of aortic dissections in patients presenting a syndrome of Marfan or a related disease: Results of a comparative study von Gaudry, Marine, Azogui, Ron, Castelli, Maxime, Bartoli, Michel, Omnes, Virgile, Demasi, Mariangela, Jacquier, Alexis, Piquet, Philippe, Gariboldi, Vlad, Busa, Tiffany, Bal, Laurence

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