Saturation of the Human Phenome

por Samuels, Mark E.
Publicado 2010

Ethanol-mediated upregulation of APOA1 gene expression in HepG2 cells is independent of de novo lipid biosynthesis

por Khodja, Youcef, Samuels, Mark E.
Publicado 2020

Genetic Mosaics and the Germ Line Lineage

por Samuels, Mark E., Friedman, Jan M.
Publicado 2015

Evolution of the patellar sesamoid bone in mammals

por Samuels, Mark E., Regnault, Sophie, Hutchinson, John R.
Publicado 2017

Genomic Sequence of Canadian Chenopodium berlandieri: A North American Wild Relative of Quinoa

por Samuels, Mark E., Lapointe, Cassandra, Halwas, Sara, Worley, Anne C.
Publicado 2023

Somatic Mutations Are Not Observed by Exome Sequencing of Lymphocyte DNA from Monozygotic Twins Discordant for Congenital Hypothyroidism due to Thyroid Dysgenesis

por Magne, Fabien, Serpa, Roman, Van Vliet, Guy, Samuels, Mark E., Deladoëy, Johnny
Publicado 2014

Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia

por Samuels, Mark E, te Morsche, Rene HM, Lynch, Mary E, Drenth, Joost PH
Publicado 2008

Application of Homozygosity Haplotype Analysis to Genetic Mapping with High-Density SNP Genotype Data

por Jiang, Haiyan, Orr, Andrew, Guernsey, Duane L., Robitaille, Johane, Asselin, Géraldine, Samuels, Mark E., Dubé, Marie-Pierre
Publicado 2009

OR22-01 NF-κB Pathway Is Implicated in Thyroid Embryogenesis

por Vanier, Stéphanie Larrivée, Magne, Fabien, Jean-Louis, Martineau, Samuels, Mark E, Van Vliet, Guy, Deladoey, Johnny Yvan
Publicado 2020

Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis

por Nada, Dina, Julien, Cédric, Papillon-Cavanagh, Simon, Majewski, Jacek, Elbakry, Mohamed, Elremaly, Wesam, Samuels, Mark E., Moreau, Alain
Publicado 2022

Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease

por Bogdanik, Laurent P., Sleigh, James N., Tian, Cong, Samuels, Mark E., Bedard, Karen, Seburn, Kevin L., Burgess, Robert W.
Publicado 2013

Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression

por Morales, Carlos R., Grigoryeva, Lubov S., Pan, Xuefang, Bruno, Luigi, Hickson, Gilles, Ngo, Michael H., McMaster, Christopher R., Samuels, Mark E., Pshezhetsky, Alexey V.
Publicado 2014

Association of Circulating YKL-40 Levels and CHI3L1 Variants with the Risk of Spinal Deformity Progression in Adolescent Idiopathic Scoliosis

por Nada, Dina, Julien, Cédric, Rompré, Pierre H., Akoume, Marie-Yvonne, Gorman, Kristen F., Samuels, Mark E., Levy, Emile, Kost, Jason, Li, Dawei, Moreau, Alain
Publicado 2019

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis

por Larrivée-Vanier, Stéphanie, Jean-Louis, Martineau, Magne, Fabien, Bui, Helen, Rouleau, Guy A., Spiegelman, Dan, Samuels, Mark E., Kibar, Zoha, Van Vliet, Guy, Deladoëy, Johnny
Publicado 2022

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease

por 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
Publicado 2016

A generalizable pre-clinical research approach for orphan disease therapy

por 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
Publicado 2012

Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease

por 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.
Publicado 2010

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

por Gauthier, Julie, Ouled Amar Bencheikh, Bouchra, Hamdan, Fadi F, Harrison, Steven M, Baker, Linda A, Couture, Françoise, Thiffault, Isabelle, Ouazzani, Reda, Samuels, Mark E, Mitchell, Grant A, Rouleau, Guy A, Michaud, Jacques L, Soucy, Jean- François
Publicado 2015

Mutations in a novel serine protease PRSS56 in families with nanophthalmos

por Orr, Andrew, Dubé, Marie-Pierre, Zenteno, Juan C., Jiang, Haiyan, Asselin, Geraldine, Evans, Susan C., Caqueret, Aurore, Lakosha, Hesham, Letourneau, Louis, Marcadier, Julien, Matsuoka, Makoto, Macgillivray, Christine, Nightingale, Mathew, Papillon-Cavanagh, Simon, Perry, Scott, Provost, Sylvie, Ludman, Mark, Guernsey, Duane L., Samuels, Mark E.
Publicado 2011

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

por Samuels, Mark E, Majewski, Jacek, Alirezaie, Najmeh, Fernandez, Isabel, Casals, Ferran, Patey, Natalie, Decaluwe, Hélène, Gosselin, Isabelle, Haddad, Elie, Hodgkinson, Alan, Idaghdour, Youssef, Marchand, Valerie, Michaud, Jacques L, Rodrigue, Marc-André, Desjardins, Sylvie, Dubois, Stéphane, Le Deist, Francoise, Awadalla, Philip, Raymond, Vincent, Maranda, Bruno
Publicado 2013