A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants von Chatron, Nicolas, Cabet, Sara, Alix, Eudeline, Buenerd, Annie, Cox, Phillip, Guibaud, Laurent, Labalme, Audrey, Marks, Peter, Osio, Deborah, Putoux, Audrey, Sanlaville, Damien, Lesca, Gaetan, Vasiljevic, Alexandre

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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior von Harris, Holly K., Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S., Soucy, Aubrie, Genetti, Casie A., Suslovitch, Victoria, Rodan, Lance H., Tiller, George E., Lesca, Gaetan, Gripp, Karen W., Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D., Turnpenny, Peter D., Simon, Marleen E.H., Volker-Touw, Catharina M.L., Gassen, Koen L.I. van, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, Vries, Bert B.A. de, Immken, LaDonna L., Buchanan, Catherine, Willing, Marcia, Toler, Tomi L., Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L., Fannemel, Madeleine, Posey, Jennifer E., Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R., Larsen, Martin J., Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K., Walsh, Laurence E., Aldinger, Kimberly A., Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P., Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Jamra, Rami Abou, Dobyns, William B., Cohen, Lilian L., Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B., Beggs, Alan H., Yu, Timothy W.

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A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency von Dubruc, Estelle, Putoux, Audrey, Labalme, Audrey, Rougeot, Christelle, Sanlaville, Damien, Edery, Patrick

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Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing von Chatron, Nicolas, Schluth‐Bolard, Caroline, Frétigny, Mathilde, Labalme, Audrey, Vilchez, Gaëlle, Castet, Sabine‐Marie, Négrier, Claude, Sanlaville, Damien, Vinciguerra, Christine, Jourdy, Yohann

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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 von Castilla-Vallmanya, Laura, Selmer, Kaja K., Dimartino, Clémantine, Rabionet, Raquel, Blanco-Sánchez, Bernardo, Yang, Sandra, Reijnders, Margot R. F., van Essen, Antonie J., Oufadem, Myriam, Vigeland, Magnus D., Stadheim, Barbro, Houge, Gunnar, Cox, Helen, Kingston, Helen, Clayton-Smith, Jill, Innis, Jeffrey W., Iascone, Maria, Cereda, Anna, Gabbiadini, Sara, Chung, Wendy K., Sanders, Victoria, Charrow, Joel, Bryant, Emily, Millichap, John, Vitobello, Antonio, Thauvin, Christel, Mau-Them, Frederic Tran, Faivre, Laurence, Lesca, Gaetan, Labalme, Audrey, Rougeot, Christelle, Chatron, Nicolas, Sanlaville, Damien, Christensen, Katherine M., Kirby, Amelia, Lewandowski, Raymond, Gannaway, Rachel, Aly, Maha, Lehman, Anna, Clarke, Lorne, Graul-Neumann, Luitgard, Zweier, Christiane, Lessel, Davor, Lozic, Bernarda, Aukrust, Ingvild, Peretz, Ryan, Stratton, Robert, Smol, Thomas, Dieux-Coëslier, Anne, Meira, Joanna, Wohler, Elizabeth, Sobreira, Nara, Beaver, Erin M., Heeley, Jennifer, Briere, Lauren C., High, Frances A., Sweetser, David A., Walker, Melissa A., Keegan, Catherine E., Jayakar, Parul, Shinawi, Marwan, Kerstjens-Frederikse, Wilhelmina S., Earl, Dawn L., Siu, Victoria M., Reesor, Emma, Yao, Tony, Hegele, Robert A., Vaske, Olena M., Rego, Shannon, Shapiro, Kevin A., Wong, Brian, Gambello, Michael J., McDonald, Marie, Karlowicz, Danielle, Colombo, Roberto, Serretti, Alessandro, Pais, Lynn, O’Donnell-Luria, Anne, Wray, Alison, Sadedin, Simon, Chong, Belinda, Tan, Tiong Y., Christodoulou, John, White, Susan M., Slavotinek, Anne, Barbouth, Deborah, Morel Swols, Dayna, Parisot, Mélanie, Bole-Feysot, Christine, Nitschké, Patrick, Pingault, Véronique, Munnich, Arnold, Cho, Megan T., Cormier-Daire, Valérie, Balcells, Susanna, Lyonnet, Stanislas, Grinberg, Daniel, Amiel, Jeanne, Urreizti, Roser, Gordon, Christopher T.

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A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2 von Dimassi, Sarra, Labalme, Audrey, Lesca, Gaetan, Rudolf, Gabrielle, Bruneau, Nadine, Hirsch, Edouard, Arzimanoglou, Alexis, Motte, Jacques, Saint Martin, Anne, Boutry‐Kryza, Nadia, Cloarec, Robin, Benitto, Afaf, Ameil, Agnès, Edery, Patrick, Ryvlin, Philippe, De Bellescize, Julitta, Szepetowski, Pierre, Sanlaville, Damien

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Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes von Mosca, Ilaria, Rivolta, Ilaria, Labalme, Audrey, Ambrosino, Paolo, Castellotti, Barbara, Gellera, Cinzia, Granata, Tiziana, Freri, Elena, Binda, Anna, Lesca, Gaetan, DiFrancesco, Jacopo C., Soldovieri, Maria Virginia, Taglialatela, Maurizio

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Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report von Poisson, Alice, Chatron, Nicolas, Labalme, Audrey, Fourneret, Pierre, Ville, Dorothée, Mathieu, Marie Laure, Sanlaville, Damien, Demily, Caroline, Lesca, Gaëtan

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Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia von Talarico, Mariagrazia, Fortunato, Francesco, Labalme, Audrey, Januel, Louis, Chatron, Nicolas, Sanlaville, Damien, Sammarra, Ilaria, Gagliardi, Monica, Procopio, Radha, Valentino, Paola, Annesi, Grazia, Lesca, Gaetan, Gambardella, Antonio

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Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies von Krüger, Johanna, Schubert, Julian, Kegele, Josua, Labalme, Audrey, Mao, Miaomiao, Heighway, Jacqueline, Seebohm, Guiscard, Yan, Pu, Koko, Mahmoud, Aslan-Kara, Kezban, Caglayan, Hande, Steinhoff, Bernhard J., Weber, Yvonne G., Keo-Kosal, Pascale, Berkovic, Samuel F., Hildebrand, Michael S., Petrou, Steven, Krause, Roland, May, Patrick, Lesca, Gaetan, Maljevic, Snezana, Lerche, Holger

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Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder von Masson, Julie, Demily, Caroline, Chatron, Nicolas, Labalme, Audrey, Rollat-Farnier, Pierre-Antoine, Schluth-Bolard, Caroline, Gilbert-Dussardier, Brigitte, Giuliano, Fabienne, Touraine, Renaud, Tordjman, Sylvie, Verloes, Alain, Testa, Giuseppe, Sanlaville, Damien, Edery, Patrick, Lesca, Gaetan, Rossi, Massimiliano

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Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism von Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca, Gaëtan, Acquaviva, Cécile

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Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases von Schluth-Bolard, Caroline, Delobel, Bruno, Sanlaville, Damien, Boute, Odile, Cuisset, Jean-Marie, Sukno, Sylvie, Labalme, Audrey, Duban-Bedu, Bénédicte, Plessis, Ghislaine, Jaillard, Sylvie, Dubourg, Christèle, Henry, Catherine, Lucas, Josette, Odent, Sylvie, Pasquier, Laurent, Copin, Henri, Latour, Philippe, Cordier, Marie-Pierre, Nadeau, Gwenaël, Till, Marianne, Edery, Patrick, Andrieux, Joris

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Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature von Alqahtani, Amerh Salem, Putoux, Audrey, Bonnet Dupeyron, Marie Noelle, Carneiro, Maryline, Lion‐Francois, Laurence, Rossi, Massimiliano, Tevissen, Hélène, Schluth Bolard, Caroline, Labalme, Audrey, Lesca, Gaetan, Till, Marianne, Edery, Patrick, Sanlaville, Damien

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HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype von Joly, Philippe, Schluth-Bolard, Caroline, Lacan, Philippe, Barro, Claire, Pissard, Serge, Labalme, Audrey, Sanlaville, Damien, Badens, Catherine

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Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome von Leutenegger, Anne-Louise, Labalme, Audrey, Génin, Emmanuelle, Toutain, Annick, Steichen, Elisabeth, Clerget-Darpoux, Françoise, Edery, Patrick

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A novel telomeric (approximately 285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease von Joly, Philippe, Lacan, Philippe, Labalme, Audrey, Bonhomme, Elodie, Sanlaville, Damien, Francina, Alain

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The psychological impact of cryptic chromosomal abnormalities diagnosis announcement von Houdayer, Françoise, Gargiulo, Marcela, Frischmann, Martine, Labalme, Audrey, Decullier, Evelyne, Cordier, Marie-Pierre, Dupuis-Girod, Sophie, Lesca, Gaetan, Till, Marianne, Sanlaville, Damien, Edery, Patrick, Rossi, Massimiliano

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Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11 von Roll, Patrice, Sanlaville, Damien, Cillario, Jennifer, Labalme, Audrey, Bruneau, Nadine, Massacrier, Annick, Délepine, Marc, Dessen, Philippe, Lazar, Vladimir, Robaglia-Schlupp, Andrée, Lesca, Gaëtan, Jouve, Elisabeth, Rudolf, Gabrielle, Rochette, Jacques, Lathrop, G Mark, Szepetowski, Pierre

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Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1 : Four additional patients von Schiff, Manuel, Delahaye, Andrée, Andrieux, Joris, Sanlaville, Damien, Vincent-Delorme, Catherine, Aboura, Azzedine, Benzacken, Brigitte, Bouquillon, Sonia, Elmaleh-Berges, Monique, Labalme, Audrey, Passemard, Sandrine, Perrin, Laurence, Manouvrier-Hanu, Sylvie, Edery, Patrick, Verloes, Alain, Drunat, Séverine

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