FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project von Beaulieu, Chandree L., Majewski, Jacek, Schwartzentruber, Jeremy, Samuels, Mark E., Fernandez, Bridget A., Bernier, Francois P., Brudno, Michael, Knoppers, Bartha, Marcadier, Janet, Dyment, David, Adam, Shelin, Bulman, Dennis E., Jones, Steve J.M., Avard, Denise, Nguyen, Minh Thu, Rousseau, Francois, Marshall, Christian, Wintle, Richard F., Shen, Yaoqing, Scherer, Stephen W., Friedman, Jan M., Michaud, Jacques L., Boycott, Kym M.

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Ethanol-mediated upregulation of APOA1 gene expression in HepG2 cells is independent of de novo lipid biosynthesis von Khodja, Youcef, Samuels, Mark E

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De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia von Gauthier, Julie, Champagne, Nathalie, Lafrenière, Ronald G., Xiong, Lan, Spiegelman, Dan, Brustein, Edna, Lapointe, Mathieu, Peng, Huashan, Côté, Mélanie, Noreau, Anne, Hamdan, Fadi F., Addington, Anjené M., Rapoport, Judith L., DeLisi, Lynn E., Krebs, Marie-Odile, Joober, Ridha, Fathalli, Ferid, Mouaffak, Fayçal, Haghighi, Ali P., Néri, Christian, Dubé, Marie-Pierre, Samuels, Mark E., Marineau, Claude, Stone, Eric A., Awadalla, Philip, Barker, Philip A., Carbonetto, Salvatore, Drapeau, Pierre, Rouleau, Guy A., the S2D Team, Housman, David E.

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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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Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis von Nada, Dina, Julien, Cédric, Papillon-Cavanagh, Simon, Majewski, Jacek, Elbakry, Mohamed, Elremaly, Wesam, Samuels, Mark E., Moreau, Alain

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Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease von Preuss, Christoph, Capredon, Melanie, Wünnemann, Florian, Chetaille, Philippe, Prince, Andrea, Godard, Beatrice, Leclerc, Severine, Sobreira, Nara, Ling, Hua, Awadalla, Philip, Thibeault, Maryse, Khairy, Paul, Samuels, Mark E, Andelfinger, Gregor

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Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia von Guernsey, Duane L, Jiang, Haiyan, Campagna, Dean R, Evans, Susan C, Ferguson, Meghan, Kellogg, Mark D, Lachance, Mathieu, Matsuoka, Makoto, Nightingale, Mathew, Rideout, Andrea, Saint-Amant, Louis, Schmidt, Paul J, Orr, Andrew, Bottomley, Sylvia S, Fleming, Mark D, Ludman, Mark, Dyack, Sarah, Fernandez, Conrad V, Samuels, Mark E

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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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Evolution of the patellar sesamoid bone in mammals von Samuels, Mark E, Regnault, Sophie, Hutchinson, John R

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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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Germline mutations in MAP3K6 are associated with familial gastric cancer von Gaston, Daniel, Hansford, Samantha, Oliveira, Carla, Nightingale, Mathew, Pinheiro, Hugo, Macgillivray, Christine, Kaurah, Pardeep, Rideout, Andrea L, Steele, Patricia, Soares, Gabriela, Huang, Weei-Yuarn, Whitehouse, Scott, Blowers, Sarah, LeBlanc, Marissa A, Jiang, Haiyan, Greer, Wenda, Samuels, Mark E, Orr, Andrew, Fernandez, Conrad V, Majewski, Jacek, Ludman, Mark, Dyack, Sarah, Penney, Lynette S, McMaster, Christopher R, Huntsman, David, Bedard, Karen

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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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Genomic Sequence of Canadian Chenopodium berlandieri : A North American Wild Relative of Quinoa von Samuels, Mark E, Lapointe, Cassandra, Halwas, Sara, Worley, Anne C

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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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A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree von TIMMS, Kirsten M, WAGNER, Susanne, SAMUELS, Mark E, FORBEY, Kristian, GOLDFINE, Howard, JAMMULAPATI, Srikanth, SKOLNICK, Mark H, HOPKINS, Paul N, HUNT, Steve C, SHATTUCK, Donna M

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Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease von Guernsey, Duane L, Jiang, Haiyan, Bedard, Karen, Evans, Susan C, Ferguson, Meghan, Matsuoka, Makoto, Macgillivray, Christine, Nightingale, Mathew, Perry, Scott, Rideout, Andrea L, Orr, Andrew, Ludman, Mark, Skidmore, David L, Benstead, Timothy, Samuels, Mark E

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Saturation of the Human Phenome von Samuels, Mark E

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Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease von Bogdanik, Laurent P, Sleigh, James N, Tian, Cong, Samuels, Mark E, Bedard, Karen, Seburn, Kevin L, Burgess, Robert W

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A generalizable pre-clinical research approach for orphan disease therapy von Beaulieu, Chandree L, Samuels, Mark E, Ekins, Sean, McMaster, Christopher R, Edwards, Aled M, Krainer, Adrian R, Hicks, Geoffrey G, Frey, Brendan J, Boycott, Kym M, Mackenzie, Alex E

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A novel rearrangement of occludin causes brain calcification and renal dysfunction von LeBlanc, Marissa A., Penney, Lynette S., Gaston, Daniel, Shi, Yuhao, Aberg, Erika, Nightingale, Mathew, Jiang, Haiyan, Gillett, Roxanne M., Fahiminiya, Somayyeh, Macgillivray, Christine, Wood, Ellen P., Acott, Philip D., Khan, M. Naeem, Samuels, Mark E., Majewski, Jacek, Orr, Andrew, McMaster, Christopher R., Bedard, Karen

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