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1.

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

Khodja, Youcef; Samuels, Mark E.

Lipids Health Dis ; 19(1): 144, 2020 Jun 20.

Artículo en Inglés | MEDLINE | ID: mdl-32563265

2.

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

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.

PLoS Genet ; 12(10): e1006335, 2016 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-27760138

3.

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

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.

Am J Hum Genet ; 94(6): 809-17, 2014 Jun 05.

Artículo en Inglés | MEDLINE | ID: mdl-24906018

4.

The case for locus-specific databases.

Samuels, Mark E; Rouleau, Guy A.

Nat Rev Genet ; 12(6): 378-9, 2011 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-21540879

5.

Germline mutations in MAP3K6 are associated with familial gastric cancer.

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.

PLoS Genet ; 10(10): e1004669, 2014 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-25340522

6.

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

Chauveau, Claire; Bonnemann, Carsten G; Julien, Cedric; Kho, Ay Lin; Marks, Harold; Talim, Beril; Maury, Philippe; Arne-Bes, Marie Christine; Uro-Coste, Emmanuelle; Alexandrovich, Alexander; Vihola, Anna; Schafer, Sebastian; Kaufmann, Beth; Medne, Livija; Hübner, Norbert; Foley, A Reghan; Santi, Mariarita; Udd, Bjarne; Topaloglu, Haluk; Moore, Steven A; Gotthardt, Michael; Samuels, Mark E; Gautel, Mathias; Ferreiro, Ana.

Hum Mol Genet ; 23(4): 980-91, 2014 Feb 15.

Artículo en Inglés | MEDLINE | ID: mdl-24105469

7.

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

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; Vande Velde, Christine; Rouleau, Guy A; Drapeau, Pierre; Michaud, Jacques L.

J Med Genet ; 52(5): 303-11, 2015 May.

Artículo en Inglés | MEDLINE | ID: mdl-25650066

8.

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

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.

Am J Hum Genet ; 90(4): 693-700, 2012 Apr 06.

Artículo en Inglés | MEDLINE | ID: mdl-22425360

9.

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.

Schwartzentruber, Jeremy; Buhas, Daniela; Majewski, Jacek; Sasarman, Florin; Papillon-Cavanagh, Simon; Thiffault, Isabelle; 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.

Hum Mutat ; 35(11): 1285-9, 2014 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-25130867

10.

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.

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.

BMC Med Genet ; 15: 139, 2014 Dec 19.

Artículo en Inglés | MEDLINE | ID: mdl-25524009

11.

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

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.

J Med Genet ; 50(5): 324-9, 2013 May.

Artículo en Inglés | MEDLINE | ID: mdl-23423984

12.

Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.

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; Bencheikh, Bouchra Ouled Amar; Joober, Ridha; Samuels, Mark E; Rouleau, Guy A; Roux, Philippe P; Michaud, Jacques L.

J Med Genet ; 50(11): 740-4, 2013 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-23687350

13.

Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.

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, Robert M; Mégarbane, André; Kibar, Zoha.

Hum Mutat ; 34(1): 103-7, 2013 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-23033317

14.

A novel rearrangement of occludin causes brain calcification and renal dysfunction.

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.

Hum Genet ; 132(11): 1223-34, 2013 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-23793442

15.

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

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.

Am J Hum Genet ; 87(1): 40-51, 2010 Jul 09.

Artículo en Inglés | MEDLINE | ID: mdl-20598275

16.

Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.

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.

PLoS Genet ; 6(8)2010 Aug 26.

Artículo en Inglés | MEDLINE | ID: mdl-20865121

17.

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.

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.

Proc Natl Acad Sci U S A ; 107(17): 7863-8, 2010 Apr 27.

Artículo en Inglés | MEDLINE | ID: mdl-20385823

18.

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.

Robitaille, Johane; MacDonald, Marcia L E; Kaykas, Ajamete; Sheldahl, Laird C; Zeisler, Jutta; Dubé, Marie-Pierre; Zhang, Lin-Hua; Singaraja, Roshni R; Guernsey, Duane L; Zheng, Binyou; Siebert, Lee F; Hoskin-Mott, Ann; Trese, Michael T; Pimstone, Simon N; Shastry, Barkur S; Moon, Randall T; Hayden, Michael R; Goldberg, Y Paul; Samuels, Mark E.

Nat Genet ; 32(2): 326-30, 2002 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-12172548

19.

Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.

Papanikolaou, George; Samuels, Mark E; Ludwig, Erwin H; MacDonald, Marcia L E; Franchini, Patrick L; Dubé, Marie-Pierre; Andres, Lisa; MacFarlane, Julie; Sakellaropoulos, Nikos; Politou, Marianna; Nemeth, Elizabeta; Thompson, Jay; Risler, Jenni K; Zaborowska, Catherine; Babakaiff, Ryan; Radomski, Christopher C; Pape, Terry D; Davidas, Owen; Christakis, John; Brissot, Pierre; Lockitch, Gillian; Ganz, Tomas; Hayden, Michael R; Goldberg, Y Paul.

Nat Genet ; 36(1): 77-82, 2004 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-14647275

20.

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

Samuels, Mark E; Lapointe, Cassandra; Halwas, Sara; Worley, Anne C.

Plants (Basel) ; 12(3)2023 Jan 19.

Artículo en Inglés | MEDLINE | ID: mdl-36771551

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