Výsledky vyhledávání - Cogné, Benjamin

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region Autor Vallat, Jean-Michel, Nizon, Mathilde, Magee, Alex, Isidor, Bertrand, Magy, Laurent, Péréon, Yann, Richard, Laurence, Ouvrier, Robert, Cogné, Benjamin, Devaux, Jérôme, Zuchner, Stephan, Mathis, Stéphane

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MAN1B1-CDG: Three new individuals and associated biochemical profiles Autor Sakhi, Soraya, Cholet, Sophie, Wehbi, Samer, Isidor, Bertrand, Cogne, Benjamin, Vuillaumier-Barrot, Sandrine, Dupré, Thierry, Detleft, Trost, Schmitt, Emmanuelle, Leheup, Bruno, Bonnet, Céline, Feillet, François, Muti, Christine, Fenaille, François, Bruneel, Arnaud

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Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing Autor Lecomte, Emilie, Tournaire, Benoît, Cogné, Benjamin, Dupont, Jean-Baptiste, Lindenbaum, Pierre, Martin-Fontaine, Mélanie, Broucque, Frédéric, Robin, Cécile, Hebben, Matthias, Merten, Otto-Wilhelm, Blouin, Véronique, François, Achille, Redon, Richard, Moullier, Philippe, Léger, Adrien

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A dominant vimentin variant causes a rare syndrome with premature aging Autor Cogné, Benjamin, Bouameur, Jamal-Eddine, Hayot, Gaëlle, Latypova, Xenia, Pattabiraman, Sundararaghavan, Caillaud, Amandine, Si-Tayeb, Karim, Besnard, Thomas, Küry, Sébastien, Chariau, Caroline, Gaignerie, Anne, David, Laurent, Bordure, Philippe, Kaganovich, Daniel, Bézieau, Stéphane, Golzio, Christelle, Magin, Thomas M., Isidor, Bertrand

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Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy Autor Nizon, Mathilde, Cogne, Benjamin, Vallat, Jean-Michel, Joubert, Madeleine, Liet, Jean-Michel, Simon, Laure, Vincent, Marie, Küry, Sébastien, Boisseau, Pierre, Schmitt, Sébastien, Mercier, Sandra, Bénéteau, Claire, Larrose, Catherine, Coste, Marianne, Latypova, Xénia, Péréon, Yann, Mussini, Jean-Marie, Bézieau, Stéphane, Isidor, Bertrand

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Short-lived recombinant adeno-associated virus transgene expression in dystrophic muscle is associated with oxidative damage to transgene mRNA Autor Dupont, Jean-Baptiste, Tournaire, Benoit, Georger, Christophe, Marolleau, Béatrice, Jeanson-Leh, Laurence, Ledevin, Mireille, Lindenbaum, Pierre, Lecomte, Emilie, Cogné, Benjamin, Dubreil, Laurence, Larcher, Thibaut, Gjata, Bernard, Van Wittenberghe, Laetitia, Le Guiner, Caroline, Penaud-Budloo, Magalie, Snyder, Richard O, Moullier, Philippe, Léger, Adrien

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Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations Autor Cameron, Jillian M., Maljevic, Snezana, Nair, Umesh, Aung, Ye Htet, Cogné, Benjamin, Bézieau, Stéphane, Blair, Edward, Isidor, Bertrand, Zweier, Christiane, Reis, André, Koenig, Mary Kay, Maarup, Timothy, Sarco, Dean, Afenjar, Alexandra, Huq, A. H. M. Mahbubul, Kukolich, Mary, Billette de Villemeur, Thierry, Nava, Caroline, Héron, Bénédicte, Petrou, Steven, Berkovic, Samuel F.

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Searching for secondary findings: considering actionability and preserving the right not to know Autor Isidor, Bertrand, Julia, Sophie, Saugier-Veber, Pascale, Weil-Dubuc, Paul-Loup, Bézieau, Stéphane, Bieth, Eric, Bonnefont, Jean-Paul, Munnich, Arnold, Bourdeaut, Franck, Bourgain, Catherine, Chassaing, Nicolas, Corradini, Nadège, Haye, Damien, Plaisancie, Julie, Dupin-Deguine, Delphine, Calvas, Patrick, Mignot, Cyril, Cogné, Benjamin, Manouvrier, Sylvie, Pasquier, Laurent, Héron, Delphine, Boycott, Kym M, Turrini, Mauro, Vears, Danya F., Nizon, Mathilde, Vincent, Marie

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De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes Autor Liang, Lina, Li, Xia, Moutton, Sébastien, Schrier Vergano, Samantha A, Cogné, Benjamin, Saint-Martin, Anne, Hurst, Anna C E, Hu, Yushuang, Bodamer, Olaf, Thevenon, Julien, Hung, Christina Y, Isidor, Bertrand, Gerard, Bénédicte, Rega, Adelaide, Nambot, Sophie, Lehalle, Daphné, Duffourd, Yannis, Thauvin-Robinet, Christel, Faivre, Laurence, Bézieau, Stéphane, Dure, Leon S, Helbling, Daniel C, Bick, David, Xu, Chengqi, Chen, Qiuyun, Mancini, Grazia M S, Vitobello, Antonio, Wang, Qing Kenneth

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Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome Autor García-Cazorla, Àngels, Verdura, Edgard, Juliá-Palacios, Natalia, Anderson, Eric N., Goicoechea, Leire, Planas-Serra, Laura, Tsogtbaatar, Enkhtuul, Dsouza, Nikita R., Schlüter, Agatha, Urreizti, Roser, Tarnowski, Jessica M., Gavrilova, Ralitza H., Ruiz, Montserrat, Rodríguez-Palmero, Agustí, Fourcade, Stéphane, Cogné, Benjamin, Besnard, Thomas, Vincent, Marie, Bézieau, Stéphane, Folmes, Clifford D., Zimmermann, Michael T., Klee, Eric W., Pandey, Udai Bhan, Artuch, Rafael, Cousin, Margot A., Pujol, Aurora

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ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes Autor Alsharhan, Hind, He, Miao, Edmondson, Andrew C., Daniel, Earnest J. P., Chen, Jie, Donald, Tyhiesia, Bakhtiari, Somayeh, Amor, David J., Jones, Elizabeth A., Vassallo, Grace, Vincent, Marie, Cogné, Benjamin, Deb, Wallid, Werners, Arend H., Jin, Sheng C., Bilguvar, Kaya, Christodoulou, John, Webster, Richard I., Yearwood, Katherine R., Ng, Bobby G., Freeze, Hudson H., Kruer, Michael C., Li, Dong, Raymond, Kimiyo M., Bhoj, Elizabeth J., Sobering, Andrew K.

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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy Autor Cogné, Benjamin, Latypova, Xenia, Senaratne, Lokuliyanage Dona Samudita, Martin, Ludovic, Koboldt, Daniel C., Kellaris, Georgios, Fievet, Lorraine, Le Meur, Guylène, Caldari, Dominique, Debray, Dominique, Nizon, Mathilde, Frengen, Eirik, Bowne, Sara J., Cadena, Elizabeth L., Daiger, Stephen P., Bujakowska, Kinga M., Pierce, Eric A., Gorin, Michael, Katsanis, Nicholas, Bézieau, Stéphane, Petersen-Jones, Simon M., Occelli, Laurence M., Lyons, Leslie A., Legeai-Mallet, Laurence, Sullivan, Lori S., Davis, Erica E., Isidor, Bertrand

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RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature Autor Le Caignec, Cedric, Ory, Benjamin, Lamoureux, François, O’Donohue, Marie-Francoise, Orgebin, Emilien, Lindenbaum, Pierre, Téletchéa, Stéphane, Saby, Manon, Hurst, Anna, Nelson, Katherine, Gilbert, Shawn R., Wilnai, Yael, Zeitlin, Leonid, Segev, Eitan, Tesfaye, Robel, Nizon, Mathilde, Cogne, Benjamin, Bezieau, Stéphane, Geoffroy, Loic, Hamel, Antoine, Mayrargue, Emmanuelle, de Courtivron, Benoît, Decock-Giraudaud, Aliette, Charrier, Céline, Pichon, Olivier, Retière, Christelle, Redon, Richard, Pepler, Alexander, McWalter, Kirsty, Da Costa, Lydie, Toutain, Annick, Gleizes, Pierre-Emmanuel, Baud’huin, Marc, Isidor, Bertrand

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Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy Autor Vegas, Nancy, Cavallin, Mara, Maillard, Camille, Boddaert, Nathalie, Toulouse, Joseph, Schaefer, Elise, Lerman-Sagie, Tally, Lev, Dorit, Magalie, Barth, Moutton, Sébastien, Haan, Eric, Isidor, Bertrand, Heron, Delphine, Milh, Mathieu, Rondeau, Stéphane, Michot, Caroline, Valence, Stephanie, Wagner, Sabrina, Hully, Marie, Mignot, Cyril, Masurel, Alice, Datta, Alexandre, Odent, Sylvie, Nizon, Mathilde, Lazaro, Leila, Vincent, Marie, Cogné, Benjamin, Guerrot, Anne Marie, Arpin, Stéphanie, Pedespan, Jean Michel, Caubel, Isabelle, Pontier, Benedicte, Troude, Baptiste, Rivier, Francois, Philippe, Christophe, Bienvenu, Thierry, Spitz, Marie-Aude, Bery, Amandine, Bahi-Buisson, Nadia

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Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism Autor Harms, Frederike Leonie, Girisha, Katta M., Hardigan, Andrew A., Kortüm, Fanny, Shukla, Anju, Alawi, Malik, Dalal, Ashwin, Brady, Lauren, Tarnopolsky, Mark, Bird, Lynne M., Ceulemans, Sophia, Bebin, Martina, Bowling, Kevin M., Hiatt, Susan M., Lose, Edward J., Primiano, Michelle, Chung, Wendy K., Juusola, Jane, Akdemir, Zeynep C., Bainbridge, Matthew, Charng, Wu-Lin, Drummond-Borg, Margaret, Eldomery, Mohammad K., El-Hattab, Ayman W., Saleh, Mohammed A.M., Bézieau, Stéphane, Cogné, Benjamin, Isidor, Bertrand, Küry, Sébastien, Lupski, James R., Myers, Richard M., Cooper, Gregory M., Kutsche, Kerstin

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Phenotype Delineation of ZNF462 related syndrome Autor Kruszka, Paul, Hu, Tommy, Hong, Sungkook, Signer, Rebecca, Cogné, Benjamin, Isidor, Betrand, Mazzola, Sarah E., Giltay, Jacques C., van Gassen, Koen L.I., England, Eleina M., Pais, Lynn, Ockeloen, Charlotte W., Sanchez-Lara, Pedro A., Kinning, Esther, Adams, Darius J, Treat, Kayla, Torres-Martinez, Wilfredo, Bedeschi, Maria Francesca, Iascone, Maria, Blaney, Stephanie, Bell, Oliver, Tan, Tiong Y., Delrue, Marie-Ange, Jurgens, Julie, Barry, Brenda J., Engle, Elizabeth C., Savage, Sarah K., Fleischer, Nicole, Martinez-Agosto, Julian A., Boycott, Kym, Zackai, Elaine H., Muenke, Maximilian

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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features Autor Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Al Balwi, Mohammed, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Al Shamsi, Aisha, Komara, Makanko, Ali, Bassam R., Roeder, Elizabeth, McAuley, Laura, Roy, Daniel S., Manchester, David K., Magoulas, Pilar, King, Lauren E., Hannig, Vickie, Bonneau, Dominique, Denommé-Pichon, Anne-Sophie, Charif, Majida, Besnard, Thomas, Bézieau, Stéphane, Cogné, Benjamin, Andrieux, Joris, Zhu, Wenmiao, He, Weimin, Vetrini, Francesco, Ward, Patricia A., Cheung, Sau Wai, Bi, Weimin, Eng, Christine M., Lupski, James R., Yang, Yaping, Patel, Ankita, Lalani, Seema R., Xia, Fan, Stankiewicz, Pawel

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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder Autor Broly, Martin, Polevoda, Bogdan V., Awayda, Kamel M., Tong, Ning, Lentini, Jenna, Besnard, Thomas, Deb, Wallid, O’Rourke, Declan, Baptista, Julia, Ellard, Sian, Almannai, Mohammed, Hashem, Mais, Abdulwahab, Ferdous, Shamseldin, Hanan, Al-Tala, Saeed, Alkuraya, Fowzan S., Leon, Alberta, van Loon, Rosa L.E., Ferlini, Alessandra, Sanchini, Mariabeatrice, Bigoni, Stefania, Ciorba, Andrea, van Bokhoven, Hans, Iqbal, Zafar, Al-Maawali, Almundher, Al-Murshedi, Fathiya, Ganesh, Anuradha, Al-Mamari, Watfa, Lim, Sze Chern, Pais, Lynn S., Brown, Natasha, Riazuddin, Saima, Bézieau, Stéphane, Fu, Dragony, Isidor, Bertrand, Cogné, Benjamin, O’Connell, Mitchell R.

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SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice Autor El Chehadeh, Salima, Han, Kyung Ah, Kim, Dongwook, Jang, Gyubin, Bakhtiari, Somayeh, Lim, Dongseok, Kim, Hee Young, Kim, Jinhu, Kim, Hyeonho, Wynn, Julia, Chung, Wendy K., Vitiello, Giuseppina, Cutcutache, Ioana, Page, Matthew, Gecz, Jozef, Harper, Kelly, Han, Ah-reum, Kim, Ho Min, Wessels, Marja, Bayat, Allan, Jaén, Alberto Fernández, Selicorni, Angelo, Maitz, Silvia, de Brouwer, Arjan P. M., Silfhout, Anneke Vulto-van, Armstrong, Martin, Symonds, Joseph, Küry, Sébastien, Isidor, Bertrand, Cogné, Benjamin, Nizon, Mathilde, Feger, Claire, Muller, Jean, Torti, Erin, Grange, Dorothy K., Willems, Marjolaine, Kruer, Michael C., Ko, Jaewon, Piton, Amélie, Um, Ji Won

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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder Autor Lessel, Davor, Schob, Claudia, Küry, Sébastien, Reinders, Margot R.F., Harel, Tamar, Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Denecke, Jonas, Edvardson, Shimon, Colin, Estelle, Stegmann, Alexander P.A., Gerkes, Erica H., Tessarech, Marine, Bonneau, Dominique, Barth, Magalie, Besnard, Thomas, Cogné, Benjamin, Revah-Politi, Anya, Strom, Tim M., Rosenfeld, Jill A., Yang, Yaping, Posey, Jennifer E., Immken, LaDonna, Oundjian, Nelly, Helbig, Katherine L., Meeks, Naomi, Zegar, Kelsey, Morton, Jenny, Schieving, Jolanda H., Claasen, Ana, Huentelman, Matthew, Narayanan, Vinodh, Ramsey, Keri, Brunner, Han G., Elpeleg, Orly, Mercier, Sandra, Bézieau, Stéphane, Kubisch, Christian, Kleefstra, Tjitske, Kindler, Stefan, Lupski, James R., Kreienkamp, Hans-Jürgen

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