Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype

بواسطة Morice-Picard, Fanny, Benard, Giovanni, Rezvani, Hamid R, Lasseaux, Eulalie, Simon, Delphine, Moutton, Sébastien, Rooryck, Caroline, Lacombe, Didier, Baumann, Clarisse, Arveiler, Benoit
الحاوية / القاعدة Eur J Hum Genet (2017)

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

بواسطة Nguyen, Lam Son, Schneider, Taiane, Rio, Marlène, Moutton, Sébastien, Siquier-Pernet, Karine, Verny, Florine, Boddaert, Nathalie, Desguerre, Isabelle, Munich, Arnold, Rosa, José Luis, Cormier-Daire, Valérie, Colleaux, Laurence
الحاوية / القاعدة Eur J Hum Genet (2016)

A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy

بواسطة 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
الحاوية / القاعدة Epilepsia Open (2019)

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

بواسطة 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
منشور في 2013

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

بواسطة 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
الحاوية / القاعدة Eur J Hum Genet (2019)

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

بواسطة 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
الحاوية / القاعدة Eur J Hum Genet (2017)

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

بواسطة 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.
الحاوية / القاعدة Am J Hum Genet (2019)

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

بواسطة 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
الحاوية / القاعدة Eur J Hum Genet (2017)

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

بواسطة 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
الحاوية / القاعدة Am J Hum Genet (2020)

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

بواسطة 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
الحاوية / القاعدة Nat Neurosci (2015)

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

بواسطة 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
الحاوية / القاعدة Hum Mol Genet (2019)

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

بواسطة 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
الحاوية / القاعدة Hum Mol Genet (2019)

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

بواسطة 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
الحاوية / القاعدة Hum Mol Genet (2020)

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy

بواسطة 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
الحاوية / القاعدة Neurol Genet (2018)

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

بواسطة 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.
الحاوية / القاعدة Am J Hum Genet (2020)

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers

بواسطة Renault, Anne-Laure, Mebirouk, Noura, Fuhrmann, Laetitia, Bataillon, Guillaume, Cavaciuti, Eve, Le Gal, Dorothée, Girard, Elodie, Popova, Tatiana, La Rosa, Philippe, Beauvallet, Juana, Eon-Marchais, Séverine, Dondon, Marie-Gabrielle, d’Enghien, Catherine Dubois, Laugé, Anthony, Chemlali, Walid, Raynal, Virginie, Labbé, Martine, Bièche, Ivan, Baulande, Sylvain, Bay, Jacques-Olivier, Berthet, Pascaline, Caron, Olivier, Buecher, Bruno, Faivre, Laurence, Fresnay, Marc, Gauthier-Villars, Marion, Gesta, Paul, Janin, Nicolas, Lejeune, Sophie, Maugard, Christine, Moutton, Sébastien, Venat-Bouvet, Laurence, Zattara, Hélène, Fricker, Jean-Pierre, Gladieff, Laurence, Coupier, Isabelle, Chenevix-Trench, Georgia, Hall, Janet, Vincent-Salomon, Anne, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne
الحاوية / القاعدة Breast Cancer Res (2018)

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

بواسطة Barbosa, Sónia, Greville-Heygate, Stephanie, Bonnet, Maxime, Godwin, Annie, Fagotto-Kaufmann, Christine, Kajava, Andrey V., Laouteouet, Damien, Mawby, Rebecca, Wai, Htoo Aung, Dingemans, Alexander J.M., Hehir-Kwa, Jayne, Willems, Marjorlaine, Capri, Yline, Mehta, Sarju G., Cox, Helen, Goudie, David, Vansenne, Fleur, Turnpenny, Peter, Vincent, Marie, Cogné, Benjamin, Lesca, Gaëtan, Hertecant, Jozef, Rodriguez, Diana, Keren, Boris, Burglen, Lydie, Gérard, Marion, Putoux, Audrey, Cantagrel, Vincent, Siquier-Pernet, Karine, Rio, Marlene, Banka, Siddharth, Sarkar, Ajoy, Steeves, Marcie, Parker, Michael, Clement, Emma, Moutton, Sébastien, Tran Mau-Them, Frédéric, Piton, Amélie, de Vries, Bert B.A., Guille, Matthew, Debant, Anne, Schmidt, Susanne, Baralle, Diana
الحاوية / القاعدة Am J Hum Genet (2020)

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

بواسطة Gregor, Anne, Sadleir, Lynette G., Asadollahi, Reza, Azzarello-Burri, Silvia, Battaglia, Agatino, Ousager, Lilian Bomme, Boonsawat, Paranchai, Bruel, Ange-Line, Buchert, Rebecca, Calpena, Eduardo, Cogné, Benjamin, Dallapiccola, Bruno, Distelmaier, Felix, Elmslie, Frances, Faivre, Laurence, Haack, Tobias B., Harrison, Victoria, Henderson, Alex, Hunt, David, Isidor, Bertrand, Joset, Pascal, Kumada, Satoko, Lachmeijer, Augusta M.A., Lees, Melissa, Lynch, Sally Ann, Martinez, Francisco, Matsumoto, Naomichi, McDougall, Carey, Mefford, Heather C., Miyake, Noriko, Myers, Candace T., Moutton, Sébastien, Nesbitt, Addie, Novelli, Antonio, Orellana, Carmen, Rauch, Anita, Rosello, Monica, Saida, Ken, Santani, Avni B., Sarkar, Ajoy, Scheffer, Ingrid E., Shinawi, Marwan, Steindl, Katharina, Symonds, Joseph D., Zackai, Elaine H., Reis, André, Sticht, Heinrich, Zweier, Christiane
الحاوية / القاعدة Am J Hum Genet (2018)

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

بواسطة Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R
الحاوية / القاعدة Genet Med (2017)

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

بواسطة Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frédéric, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna K., Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju G., Chung, Wendy K., Devriendt, Koenraad, Holder, Susan E., Jewett, Tamison, Baldwin, Lauren M., Wilson, William G., Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah F., Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer A., Shashi, Vandana, Koudijs, Suzanne M., Heijligers, Malou, Kivuva, Emma, McTague, Amy, Male, Alison, van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie L., Houge, Gunnar, Janssens, Veerle
الحاوية / القاعدة Genet Med (2020)