Torthaí cuardaigh - Moutton, Sebastien

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype de réir Morice-Picard, Fanny, Benard, Giovanni, Rezvani, Hamid R, Lasseaux, Eulalie, Simon, Delphine, Moutton, Sébastien, Rooryck, Caroline, Lacombe, Didier, Baumann, Clarisse, Arveiler, Benoit

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy de réir Lauritano, Anna, Moutton, Sebastien, Longobardi, Elena, Tran Mau‐Them, Frédéric, Laudati, Giusy, Nappi, Piera, Soldovieri, Maria Virginia, Ambrosino, Paolo, Cataldi, Mauro, Jouan, Thibaud, Lehalle, Daphné, Maurey, Hélène, Philippe, Christophe, Miceli, Francesco, Vitobello, Antonio, Taglialatela, Maurizio

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth de réir Van Maldergem, Lionel, Hou, Qingming, Kalscheuer, Vera M., Rio, Marlène, Doco-Fenzy, Martine, Medeira, Ana, de Brouwer, Arjan P.M., Cabrol, Christelle, Haas, Stefan A., Cacciagli, Pierre, Moutton, Sébastien, Landais, Emilie, Motte, Jacques, Colleaux, Laurence, Bonnet, Céline, Villard, Laurent, Dupont, Juliette, Man, Heng-Ye

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing de réir Bruel, Ange-Line, Nambot, Sophie, Quéré, Virginie, Vitobello, Antonio, Thevenon, Julien, Assoum, Mirna, Moutton, Sébastien, Houcinat, Nada, Lehalle, Daphné, Jean-Marçais, Nolwenn, Chevarin, Martin, Jouan, Thibaud, Poë, Charlotte, Callier, Patrick, Tisserand, Emilie, Philippe, Christophe, Them, Frédéric Tran Mau, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases de réir Tran Mau‐Them, Frederic, Duffourd, Yannis, Vitobello, Antonio, Bruel, Ange‐Line, Denommé‐Pichon, Anne‐Sophie, Nambot, Sophie, Delanne, Julian, Moutton, Sebastien, Sorlin, Arthur, Couturier, Victor, Bourgeois, Valentin, Chevarin, Martin, Poe, Charlotte, Mosca‐Boidron, Anne‐Laure, Callier, Patrick, Safraou, Hana, Faivre, Laurence, Philippe, Christophe, Thauvin‐Robinet, Christel

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Variants of human CLDN9 cause mild to profound hearing loss de réir Ramzan, Memoona, Philippe, Christophe, Belyantseva, Inna A., Nakano, Yoko, Fenollar-Ferrer, Cristina, Tona, Risa, Yousaf, Rizwan, Basheer, Rasheeda, Imtiaz, Ayesha, Faridi, Rabia, Munir, Zunaira, Idrees, Hafiza, Salman, Midhat, Nambot, Sophie, Vitobello, Antonio, Kartti, Souad, Zarrik, Oumaima, Witmer, P. Dane, Sobreria, Nara, Ibrahimi, Azeddine, Banfi, Botond, Moutton, Sebastien, Friedman, Thomas B., Naz, Sadaf

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference de réir Trimouille, Aurélien, Houcinat, Nada, Vuillaume, Marie-Laure, Fergelot, Patricia, Boucher, Cécile, Toutain, Jérôme, Caignec, Cédric Le, Vincent, Marie, Nizon, Mathilde, Andrieux, Joris, Vanlerberghe, Clémence, Delobel, Bruno, Duban, Bénédicte, Mansour, Sahar, Baple, Emma, McKeown, Colina, Poke, Gemma, Robertshaw, Kate, Fifield, Eve, Fabretto, Antonella, Pecile, Vanna, Gasparini, Paolo, Carrozzi, Marco, Lacombe, Didier, Arveiler, Benoît, Rooryck, Caroline, Moutton, Sébastien

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans de réir Duijkers, Floor A., McDonald, Andrew, Janssens, Georges E., Lezzerini, Marco, Jongejan, Aldo, van Koningsbruggen, Silvana, Leeuwenburgh-Pronk, Wendela G., Wlodarski, Marcin W., Moutton, Sébastien, Tran-Mau-Them, Frédéric, Thauvin-Robinet, Christel, Faivre, Laurence, Monaghan, Kristin G., Smol, Thomas, Boute-Benejean, Odile, Ladda, Roger L., Sell, Susan L., Bruel, Ange-Line, Houtkooper, Riekelt H., MacInnes, Alyson W.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability? de réir Le Gall, Jessica, Nizon, Mathilde, Pichon, Olivier, Andrieux, Joris, Audebert-Bellanger, Séverine, Baron, Sabine, Beneteau, Claire, Bilan, Frédéric, Boute, Odile, Busa, Tiffany, Cormier-Daire, Valérie, Ferec, Claude, Fradin, Mélanie, Gilbert-Dussardier, Brigitte, Jaillard, Sylvie, Jønch, Aia, Martin-Coignard, Dominique, Mercier, Sandra, Moutton, Sébastien, Rooryck, Caroline, Schaefer, Elise, Vincent, Marie, Sanlaville, Damien, Le Caignec, Cédric, Jacquemont, Sébastien, David, Albert, Isidor, Bertrand

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder de réir Mattioli, Francesca, Hayot, Gaelle, Drouot, Nathalie, Isidor, Bertrand, Courraud, Jérémie, Hinckelmann, Maria-Victoria, Mau-Them, Frederic Tran, Sellier, Chantal, Goldman, Alica, Telegrafi, Aida, Boughton, Alicia, Gamble, Candace, Moutton, Sebastien, Quartier, Angélique, Jean, Nolwenn, Van Ness, Paul, Grotto, Sarah, Nambot, Sophie, Douglas, Ganka, Si, Yue Cindy, Chelly, Jamel, Shad, Zohra, Kaplan, Elisabeth, Dineen, Richard, Golzio, Christelle, Charlet-Berguerand, Nicolas, Mandel, Jean-Louis, Piton, Amélie

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation de réir Coolen, Marion, Altin, Nami, Rajamani, Karthyayani, Pereira, Eva, Siquier-Pernet, Karine, Puig Lombardi, Emilia, Moreno, Nadjeda, Barcia, Giulia, Yvert, Marianne, Laquerrière, Annie, Pouliet, Aurore, Nitschké, Patrick, Boddaert, Nathalie, Rausell, Antonio, Razavi, Féréchté, Afenjar, Alexandra, Billette de Villemeur, Thierry, Al-Maawali, Almundher, Al-Thihli, Khalid, Baptista, Julia, Beleza-Meireles, Ana, Garel, Catherine, Legendre, Marine, Gelot, Antoinette, Burglen, Lydie, Moutton, Sébastien, Cantagrel, Vincent

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects de réir Mircsof, Dennis, Langouët, Maéva, Rio, Marlène, Moutton, Sébastien, Siquier-Pernet, Karine, Bole-Feysot, Christine, Cagnard, Nicolas, Nitschke, Patrick, Gaspar, Ludmila, Žnidarič, Matej, Alibeu, Olivier, Fritz, Ann-Kristina, Wolfer, David P, Schröter, Aileen, Bosshard, Giovanna, Rudin, Markus, Koester, Christina, Crestani, Florence, Seebeck, Petra, Boddaert, Nathalie, Prescott, Katrina, Hines, Rochelle, Moss, Steven J, Fritschy, Jean-Marc, Munnich, Arnold, Amiel, Jeanne, Brown, Steven A, Tyagarajan, Shiva K, Colleaux, Laurence

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes de réir 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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 de réir Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F, Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S, Toribio, Janet, Mena, Rafael, Prada, Carlos E, Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R Frank, Baralle, Diana, Mancini, Grazia M S, Conway, Simon J, Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 de réir Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F, Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S, Toribio, Janet, Mena, Rafael, Prada, Carlos E, Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R Frank, Baralle, Diana, Mancini, Grazia M S, Conway, Simon J, Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy de réir 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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy de réir Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Mobilio, Sabrina, Niceta, Marcello, Zampino, Giuseppe, Philippe, Christophe, Moutton, Sébastien, Zaki, Maha S., James, Kiely N., Musaev, Damir, Mu, Weiyi, Baranano, Kristin, Nance, Jessica R., Rosenfeld, Jill A., Braverman, Nancy, Ciolfi, Andrea, Millan, Francisca, Person, Richard E., Bruel, Ange-Line, Thauvin-Robinet, Christel, Ververi, Athina, DeVile, Catherine, Male, Alison, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Maqbool, Shazia, Rahman, Fatima, Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Elrick, Matthew J., Anselm, Irina, Rodan, Lance H., Tartaglia, Marco, Gleeson, Joseph, Kinoshita, Taroh, Campeau, Philippe M.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders de réir Delanne, Julian, Bruel, Ange-Line, Huet, Frédéric, Moutton, Sébastien, Nambot, Sophie, Grisval, Margot, Houcinat, Nada, Kuentz, Paul, Sorlin, Arthur, Callier, Patrick, Jean-Marcais, Nolwenn, Mosca-Boidron, Anne-Laure, Mau-Them, Frédéric Tran, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Lehalle, Daphné, El Chehadeh, Salima, Francannet, Christine, Lebrun, Marine, Lambert, Laetitia, Jacquemont, Marie-Line, Gerard-Blanluet, Marion, Alessandri, Jean-Luc, Willems, Marjolaine, Thevenon, Julien, Chouchane, Mondher, Darmency, Véronique, Fatus-Fauconnier, Clémence, Gay, Sébastien, Bournez, Marie, Masurel, Alice, Leguy, Vanessa, Duffourd, Yannis, Philippe, Christophe, Feillet, François, Faivre, Laurence, Thauvin-Robinet, Christel

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán