Modeling neurodevelopmental disorder-associated human AGO1 mutations in Caenorhabditis elegans Argonaute alg-1 von Duan, Ye, Li, Li, Panzade, Ganesh Prabhakar, Piton, Amélie, Zinovyeva, Anna, Ambros, Victor

Volltext

A population genetic approach to mapping neurological disorder genes using deep resequencing von Myers, Rachel A, Casals, Ferran, Gauthier, Julie, Hamdan, Fadi F, Keebler, Jon, Boyko, Adam R, Bustamante, Carlos D, Piton, Amelie M, Spiegelman, Dan, Henrion, Edouard, Zilversmit, Martine, Hussin, Julie, Quinlan, Jacklyn, Yang, Yan, Lafrenière, Ronald G, Griffing, Alexander R, Stone, Eric A, Rouleau, Guy A, Awadalla, Philip

Volltext

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

Volltext

The role of DEAD- and DExH-box RNA helicases in neurodevelopmental disorders von Lederbauer, Johannes, Das, Sarada, Piton, Amelie, Lessel, Davor, Kreienkamp, Hans-Jürgen

Volltext

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability von Hamdan, Fadi F., Gauthier, Julie, Araki, Yoichi, Lin, Da-Ting, Yoshizawa, Yuhki, Higashi, Kyohei, Park, A-Reum, Spiegelman, Dan, Dobrzeniecka, Sylvia, Piton, Amélie, Tomitori, Hideyuki, Daoud, Hussein, Massicotte, Christine, Henrion, Edouard, Diallo, Ousmane, Shekarabi, Masoud, Marineau, Claude, Shevell, Michael, Maranda, Bruno, Mitchell, Grant, Nadeau, Amélie, D'Anjou, Guy, Vanasse, Michel, Srour, Myriam, Lafrenière, Ronald G., Drapeau, Pierre, Lacaille, Jean Claude, Kim, Eunjoon, Lee, Jae-Ran, Igarashi, Kazuei, Huganir, Richard L., Rouleau, Guy A., Michaud, Jacques L.

Volltext

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype cor... von Maillard, Pierre‐Yves, Baer, Sarah, Schaefer, Élise, Desnous, Béatrice, Villeneuve, Nathalie, Lépine, Anne, Fabre, Alexandre, Lacoste, Caroline, El Chehadeh, Salima, Piton, Amélie, Porter, Louise Frances, Perriard, Caroline, Wardé, Marie‐Thérèse Abi, Spitz, Marie‐Aude, Laugel, Vincent, Lesca, Gaëtan, Putoux, Audrey, Ville, Dorothée, Mignot, Cyril, Héron, Delphine, Nabbout, Rima, Barcia, Giulia, Rio, Marlène, Roubertie, Agathe, Meyer, Pierre, Paquis‐Flucklinger, Véronique, Patat, Olivier, Lefranc, Jérémie, Gerard, Marion, Bellescize, Julietta, Villard, Laurent, Saint Martin, Anne, Milh, Mathieu

Volltext

Highlighting the Dystonic Phenotype Related to GNAO1 von Wirth, Thomas, Garone, Giacomo, Kurian, Manju A., Piton, Amélie, Millan, Francisca, Telegrafi, Aida, Drouot, Nathalie, Rudolf, Gabrielle, Chelly, Jamel, Marks, Warren, Burglen, Lydie, Demailly, Diane, Coubes, Phillipe, Castro‐Jimenez, Mayte, Joriot, Sylvie, Ghoumid, Jamal, Belin, Jérémie, Faucheux, Jean‐Marc, Blumkin, Lubov, Hull, Mariam, Parnes, Mered, Ravelli, Claudia, Poulen, Gaëtan, Calmels, Nadège, Nemeth, Andrea H., Smith, Martin, Barnicoat, Angela, Ewenczyk, Claire, Méneret, Aurélie, Roze, Emmanuel, Keren, Boris, Mignot, Cyril, Beroud, Christophe, Acosta, Fernando, Nowak, Catherine, Wilson, William G., Steel, Dora, Capuano, Alessandro, Vidailhet, Marie, Lin, Jean‐Pierre, Tranchant, Christine, Cif, Laura, Doummar, Diane, Anheim, Mathieu

Volltext

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function von FASSIO, Anna, PATRY, Lysanne, CORRADI, Anna, BALDELLI, Pietro, LAPOINTE, Line, ST-ONGE, Judith, MELOCHE, Caroline, MOTTRON, Laurent, VALTORTA, Flavia, KHOA NGUYEN, Dang, ROULEAU, Guy A, BENFENATI, Fabio, CONGIA, Sonia, COSSETTE, Patrick, ONOFRI, Franco, PITON, Amelie, GAUTHIER, Julie, POZZI, Davide, MESSA, Mirko, DEFRANCHI, Enrico, FADDA, Manuela

Volltext

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus von Blanchet, Patricia, Bebin, Martina, Bruet, Shaam, Cooper, Gregory M, Thompson, Michelle L, Duban-Bedu, Benedicte, Gerard, Benedicte, Piton, Amelie, Suckno, Sylvie, Deshpande, Charu, Clowes, Virginia, Vogt, Julie, Turnpenny, Peter, Williamson, Michael P, Alembik, Yves, Glasgow, Eric, McNeill, Alisdair

Volltext

AnnotSV: an integrated tool for structural variations annotation von Geoffroy, Véronique, Herenger, Yvan, Kress, Arnaud, Stoetzel, Corinne, Piton, Amélie, Dollfus, Hélène, Muller, Jean

Volltext

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing von Piton, Amélie, Redin, Claire, Mandel, Jean-Louis

Volltext

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy von Nabais Sá, Maria J., Venselaar, Hanka, Wiel, Laurens, Trimouille, Aurélien, Lasseaux, Eulalie, Naudion, Sophie, Lacombe, Didier, Piton, Amélie, Vincent-Delorme, Catherine, Zweier, Christiane, Reis, André, Trollmann, Regina, Ruiz, Anna, Gabau, Elisabeth, Vetro, Annalisa, Guerrini, Renzo, Bakhtiari, Somayeh, Kruer, Michael C., Amor, David J., Cooper, Monica S., Bijlsma, Emilia K., Barakat, Tahsin Stefan, van Dooren, Marieke F., van Slegtenhorst, Marjon, Pfundt, Rolph, Gilissen, Christian, Willemsen, Michèl A., de Vries, Bert B.A., de Brouwer, Arjan P.M., Koolen, David A.

Volltext

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance von Marsh, Ashley P L, Heron, Delphine, Edwards, Timothy J, Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-Laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A, McGillivray, George, McIlroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R, Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A, Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E M, Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-Bitach, Tania, Delatycki, Martin B, Mandel, Jean-Louis, Amor, David J, Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H, Leventer, Richard J, Richards, Linda J, Lockhart, Paul J, Depienne, Christel

Volltext

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome von Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle T, Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah J, Abdul-Rahman, Omar, Bedford, Melanie, Dorrani, Naghmeh, Engleman, Kendra, Flores-Daboub, Josue, Genevieve, David, Mendoza-Londono, Roberto, Meschino, Wendy, Perrin, Laurence, Safina, Nicole, Townshend, Sharron, Scherer, Stephen W, Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna

Volltext

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency von Saunier, Chloé, Støve, Svein Isungset, Popp, Bernt, Gérard, Bénédicte, Blenski, Marina, AhMew, Nicholas, de Bie, Charlotte, Goldenberg, Paula, Isidor, Bertrand, Keren, Boris, Leheup, Bruno, Lampert, Laetitia, Mignot, Cyril, Tezcan, Kamer, Mancini, Grazia M.S., Nava, Caroline, Wasserstein, Melissa, Bruel, Ange-Line, Thevenon, Julien, Masurel, Alice, Duffourd, Yannis, Kuentz, Paul, Huet, Frédéric, Rivière, Jean-Baptiste, van Slegtenhorst, Marjon, Faivre, Laurence, Piton, Amélie, Reis, André, Arnesen, Thomas, Thauvin-Robinet, Christel, Zweier, Christiane

Volltext

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal network... von Teunissen, Maria W A, Lewerissa, Elly, van Hugte, Eline J H, Wang, Shan, Ockeloen, Charlotte W, Koolen, David A, Pfundt, Rolph, Marcelis, Carlo L M, Brilstra, Eva, Howe, Jennifer L, Scherer, Stephen W, Le Guillou, Xavier, Bilan, Frédéric, Primiano, Michelle, Roohi, Jasmin, Piton, Amelie, de Saint Martin, Anne, Baer, Sarah, Seiffert, Simone, Platzer, Konrad, Jamra, Rami Abou, Syrbe, Steffen, Doering, Jan H, Lakhani, Shenela, Nangia, Srishti, Gilissen, Christian, Vermeulen, R Jeroen, Rouhl, Rob P W, Brunner, Han G, Willemsen, Marjolein H, Nadif Kasri, Nael

Volltext

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant von Aerden, Mio, Denommé-Pichon, Anne-Sophie, Bonneau, Dominique, Bruel, Ange-Line, Delanne, Julian, Gérard, Bénédicte, Mazel, Benoît, Philippe, Christophe, Pinson, Lucile, Prouteau, Clément, Putoux, Audrey, Tran Mau-Them, Frédéric, Viora-Dupont, Éléonore, Vitobello, Antonio, Ziegler, Alban, Piton, Amélie, Isidor, Bertrand, Francannet, Christine, Maillard, Pierre-Yves, Julia, Sophie, Philippe, Anais, Schaefer, Elise, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, Legius, Eric, Theunis, Miel, Keren, Boris, Buratti, Julien, Charles, Perrine, Courtin, Thomas, Misra-Isrie, Mala, van Haelst, Mieke, Waisfisz, Quinten, Wieczorek, Dagmar, Schmetz, Ariane, Herget, Theresia, Kortüm, Fanny, Lisfeld, Jasmin, Debray, François-Guillaume, Bramswig, Nuria C, Atallah, Isis, Fodstad, Heidi, Jouret, Guillaume, Almoguera, Berta, Tahsin-Swafiri, Saoud, Santos-Simarro, Fernando, Palomares-Bralo, Maria, López-González, Vanesa, Kibaek, Maria, Tørring, Pernille M, Renieri, Alessandra, Bruno, Lucia Pia, Õunap, Katrin, Wojcik, Monica, Hsieh, Tzung-Chien, Krawitz, Peter, Van Esch, Hilde

Volltext

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype von Isidor, Bertrand, Ebstein, Frédéric, Hurst, Anna, Vincent, Marie, Bader, Ingrid, Rudy, Natasha L., Cogne, Benjamin, Mayr, Johannes, Brehm, Anja, Bupp, Caleb, Warren, Kathryn, Bacino, Carlos A., Gerard, Amanda, Ranells, Judith D., Metcalfe, Kay A., van Bever, Yolande, Jiang, Yong-Hui, Mendelssohn, Bryce A., Cope, Heidi, Rosenfeld, Jill A., Blackburn, Patrick R., Goodenberger, McKinsey L., Kearney, Hutton M., Kennedy, Joanna, Scurr, Ingrid, Szczaluba, Krzysztof, Ploski, Rafal, de Saint Martin, Anne, Alembik, Yves, Piton, Amélie, Bruel, Ange-Line, Thauvin-Robinet, Christel, Strong, Alanna, Diderich, Karin E.M., Bourgeois, Dominique, Dahan, Karin, Vignard, Virginie, Bonneau, Dominique, Colin, Estelle, Barth, Magalie, Camby, Caroline, Baujat, Geneviève, Briceño, Ignacio, Gómez, Alberto, Deb, Wallid, Conrad, Solène, Besnard, Thomas, Bézieau, Stéphane, Krüger, Elke, Küry, Sébastien, Stankiewicz, PaweƗ

Volltext

Mutations in the calcium-related gene IL1RAPL1 are associated with autism von Piton, Amélie, Michaud, Jacques L., Peng, Huashan, Aradhya, Swaroop, Gauthier, Julie, Mottron, Laurent, Champagne, Nathalie, Lafrenière, Ronald G., Hamdan, Fadi F., Joober, Ridha, Fombonne, Eric, Marineau, Claude, Cossette, Patrick, Dubé, Marie-Pierre, Haghighi, Pejmun, Drapeau, Pierre, Barker, Philip A., Carbonetto, Salvatore, Rouleau, Guy A.

Volltext

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism von Mattioli, Francesca, Piton, Amelie, Gérard, Bénédicte, Superti-Furga, Andrea, Mandel, Jean-Louis, Unger, Sheila

Volltext