De novo mutations in moderate or severe intellectual disability von Hamdan, Fadi F, Srour, Myriam, Capo-Chichi, Jose-Mario, Daoud, Hussein, Nassif, Christina, Patry, Lysanne, Massicotte, Christine, Ambalavanan, Amirthagowri, Spiegelman, Dan, Diallo, Ousmane, Henrion, Edouard, Dionne-Laporte, Alexandre, Fougerat, Anne, Pshezhetsky, Alexey V, Venkateswaran, Sunita, Rouleau, Guy A, Michaud, Jacques L

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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

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Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population von Srour, Myriam, Schwartzentruber, Jeremy, Hamdan, Fadi F., Ospina, Luis H., Patry, Lysanne, Labuda, Damian, Massicotte, Christine, Dobrzeniecka, Sylvia, Capo-Chichi, José-Mario, Papillon-Cavanagh, Simon, Samuels, Mark E., Boycott, Kym M., Shevell, Michael I., Laframboise, Rachel, Désilets, Valérie, Maranda, Bruno, Rouleau, Guy A., Majewski, Jacek, Michaud, Jacques L.

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SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth von Corradi, Anna, Fadda, Manuela, Piton, Amélie, Patry, Lysanne, Marte, Antonella, Rossi, Pia, Cadieux-Dion, Maxime, Gauthier, Julie, Lapointe, Line, Mottron, Laurent, Valtorta, Flavia, Rouleau, Guy A, Fassio, Anna, Benfenati, Fabio, Cossette, Patrick

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Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4 von Guernsey, Duane L., Jiang, Haiyan, Hussin, Julie, Arnold, Marc, Bouyakdan, Khalil, Perry, Scott, Babineau-Sturk, Tina, Beis, Jill, Dumas, Nadine, Evans, Susan C., Ferguson, Meghan, Matsuoka, Makoto, Macgillivray, Christine, Nightingale, Mathew, Patry, Lysanne, Rideout, Andrea L., Thomas, Aidan, Orr, Andrew, Hoffmann, Ingrid, Michaud, Jacques L., Awadalla, Philip, Meek, David C., Ludman, Mark, Samuels, Mark E.

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Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome von Guernsey, Duane L, Matsuoka, Makoto, Jiang, Haiyan, Evans, Susan, Macgillivray, Christine, Nightingale, Mathew, Perry, Scott, Ferguson, Meghan, LeBlanc, Marissa, Paquette, Jean, Patry, Lysanne, Rideout, Andrea L, Thomas, Aidan, Orr, Andrew, McMaster, Chris R, Michaud, Jacques L, Deal, Cheri, Langlois, Sylvie, Superneau, Duane W, Parkash, Sandhya, Ludman, Mark, Skidmore, David L, Samuels, Mark E

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Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly von Capo-Chichi, José-Mario, Tcherkezian, Joseph, Hamdan, Fadi F, Décarie, Jean Claude, Dobrzeniecka, Sylvia, Patry, Lysanne, Nadon, Marc-Antoine, Mucha, Bettina E, Major, Philippe, Shevell, Michael, Ouled Amar Bencheikh, Bouchra, Joober, Ridha, Samuels, Mark E, Rouleau, Guy A, Roux, Philippe P, Michaud, Jacques L

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Absence of a differentiation defect in muscle satellite cells from DM2 patients von Pelletier, Richard, Hamel, Frederic, Beaulieu, Daniel, Patry, Lysanne, Haineault, Caroline, Tarnopolsky, Mark, Schoser, Benedikt, Puymirat, Jack

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Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency von Berryer, Martin H., Hamdan, Fadi F., Klitten, Laura L., Møller, Rikke S., Carmant, Lionel, Schwartzentruber, Jeremy, Patry, Lysanne, Dobrzeniecka, Sylvia, Rochefort, Daniel, Neugnot-Cerioli, Mathilde, Lacaille, Jean-Claude, Niu, Zhiyv, Eng, Christine M., Yang, Yaping, Palardy, Sylvain, Belhumeur, Céline, Rouleau, Guy A., Tommerup, Niels, Immken, LaDonna, Beauchamp, Miriam H., Patel, Gayle Simpson, Majewski, Jacek, Tarnopolsky, Mark A., Scheffzek, Klaus, Hjalgrim, Helle, Michaud, Jacques L., Di Cristo, Graziella

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Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia von Srour, Myriam, Chitayat, David, Caron, Véronique, Chassaing, Nicolas, Bitoun, Pierre, Patry, Lysanne, Cordier, Marie-Pierre, Capo-Chichi, José-Mario, Francannet, Christine, Calvas, Patrick, Ragge, Nicola, Dobrzeniecka, Sylvia, Hamdan, Fadi F., Rouleau, Guy A., Tremblay, André, Michaud, Jacques L.

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Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy von Ruzzo, Elizabeth K., Capo-Chichi, José-Mario, Ben-Zeev, Bruria, Chitayat, David, Mao, Hanqian, Pappas, Andrea L., Hitomi, Yuki, Lu, Yi-Fan, Yao, Xiaodi, Hamdan, Fadi F., Pelak, Kimberly, Reznik-Wolf, Haike, Bar-Joseph, Ifat, Oz-Levi, Danit, Lev, Dorit, Lerman-Sagie, Tally, Leshinsky-Silver, Esther, Anikster, Yair, Ben-Asher, Edna, Olender, Tsviya, Colleaux, Laurence, Décarie, Jean-Claude, Blaser, Susan, Banwell, Brenda, Joshi, Rasesh B., He, Xiao-Ping, Patry, Lysanne, Silver, Rachel J., Dobrzeniecka, Sylvia, Islam, Mohammad S., Hasnat, Abul, Samuels, Mark E., Aryal, Dipendra K., Rodriguiz, Ramona M., Jiang, Yong-hui, Wetsel, William C., McNamara, James O., Rouleau, Guy A., Silver, Debra L., Lancet, Doron, Pras, Elon, Mitchell, Grant A., Michaud, Jacques L., Goldstein, David B.

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Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafne... von Schwartzentruber, Jeremy, Buhas, Daniela, Majewski, Jacek, Sasarman, Florin, Papillon-Cavanagh, Simon, Thiffaut, Isabelle, Sheldon, Katherine M., Massicotte, Christine, Patry, Lysanne, Simon, Mariella, Zare, Amir S., McKernan, Kevin J., Michaud, Jacques, Boles, Richard G., Deal, Cheri L., Desilets, Valerie, Shoubridge, Eric A., Samuels, Mark E.

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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome von Majewski, Jacek, Schwartzentruber, Jeremy A., Caqueret, Aurore, Patry, Lysanne, Marcadier, Janet, Fryns, Jean-Pierre, Boycott, Kym M., Ste-Marie, Louis-Georges, McKiernan, Fergus E., Marik, Ivo, Van Esch, Hilde, Michaud, Jacques L., Samuels, Mark E.

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Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 von Srour, Myriam, Hamdan, Fadi F., McKnight, Dianalee, Davis, Erica, Mandel, Hanna, Schwartzentruber, Jeremy, Martin, Brissa, Patry, Lysanne, Nassif, Christina, Dionne-Laporte, Alexandre, Ospina, Luis H., Lemyre, Emmanuelle, Massicotte, Christine, Laframboise, Rachel, Maranda, Bruno, Labuda, Damian, Décarie, Jean-Claude, Rypens, Françoise, Goldsher, Dorith, Fallet-Bianco, Catherine, Soucy, Jean-François, Laberge, Anne-Marie, Maftei, Catalina, Boycott, Kym, Brais, Bernard, Boucher, Renée-Myriam, Rouleau, Guy A., Katsanis, Nicholas, Majewski, Jacek, Elpeleg, Orly, Kukolich, Mary K., Shalev, Stavit, Michaud, Jacques L.

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Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies von Brue, Thierry, Quentien, Marie-Hélène, Khetchoumian, Konstantin, Bensa, Marco, Capo-Chichi, José-Mario, Delemer, Brigitte, Balsalobre, Aurelio, Nassif, Christina, Papadimitriou, Dimitris T, Pagnier, Anne, Hasselmann, Caroline, Patry, Lysanne, Schwartzentruber, Jeremy, Souchon, Pierre-François, Takayasu, Shinobu, Enjalbert, Alain, Van Vliet, Guy, Majewski, Jacek, Drouin, Jacques, Samuels, Mark E

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Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria von Capo-Chichi, José-Mario, Boissel, Sarah, Brustein, Edna, Pickles, Sarah, Fallet-Bianco, Catherine, Nassif, Christina, Patry, Lysanne, Dobrzeniecka, Sylvia, Liao, Meijiang, Labuda, Damian, Samuels, Mark E, Hamdan, Fadi F, Velde, Christine Vande, Rouleau, Guy A, Drapeau, Pierre, Michaud, Jacques L

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Mutations in TMEM231 cause Joubert syndrome in French Canadians von Srour, Myriam, Hamdan, Fadi F, Schwartzentruber, Jeremy A, Patry, Lysanne, Ospina, Luis H, Shevell, Michael I, Désilets, Valérie, Dobrzeniecka, Sylvia, Mathonnet, Géraldine, Lemyre, Emmanuelle, Massicotte, Christine, Labuda, Damian, Amrom, Dina, Andermann, Eva, Sébire, Guillaume, Maranda, Bruno, Consortium, FORGE Canada, Rouleau, Guy A, Majewski, Jacek, Michaud, Jacques L

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Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome von Capo-Chichi, José-Mario, Bharti, Sanjay Kumar, Sommers, Joshua A., Yammine, Tony, Chouery, Eliane, Patry, Lysanne, Rouleau, Guy A., Samuels, Mark E., Hamdan, Fadi F., Michaud, Jacques L., Brosh Jr, Robert M., Mégarbane, André, Kibar, Zoha

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Bioinactive ACTH Causing Glucocorticoid Deficiency von Samuels, Mark E, Gallo-Payet, Nicole, Pinard, Sandra, Hasselmann, Caroline, Magne, Fabien, Patry, Lysanne, Chouinard, Lucie, Schwartzentruber, Jeremy, René, Patricia, Sawyer, Nicole, Bouvier, Michel, Djemli, Anissa, Delvin, Edgard, Huot, Céline, Eugene, Dardye, Deal, Cheri L, Van Vliet, Guy, Majewski, Jacek, Deladoëy, Johnny, FORGE Canada Consortium

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De Novo Mutations in Moderate or Severe Intellectual Disability: e1004772 von Hamdan, Fadi F, Srour, Myriam, Capo-Chichi, Jose-Mario, Daoud, Hussein, Nassif, Christina, Patry, Lysanne, Massicotte, Christine, Ambalavanan, Amirthagowri, Spiegelman, Dan, Diallo, Ousmane, Henrion, Edouard, Dionne-Laporte, Alexandre, Fougerat, Anne, Pshezhetsky, Alexey V, Venkateswaran, Sunita, Rouleau, Guy A, Michaud, Jacques L

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