Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
Bottomley, Sylvia S, Campagna, Dean R, Matsuoka, Makoto, Guernsey, Duane L, Rideout, Andrea, Dyack, Sarah, Samuels, Mark E, Kellogg, Mark D, Schmidt, Paul J, Nightingale, Mathew, Jiang, Haiyan, Ludman, Mark, Saint-Amant, Louis, Lachance, Mathieu, Ferguson, Meghan, Fernandez, Conrad V, Evans, Susan C, Fleming, Mark D, Orr, Andrew
Published in Nature genetics (01.06.2009)
Published in Nature genetics (01.06.2009)
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Journal Article
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.
Published in American journal of human genetics (09.07.2010)
Published in American journal of human genetics (09.07.2010)
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Journal Article
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
Published in PLoS genetics (01.08.2010)
Published in PLoS genetics (01.08.2010)
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Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2
Guernsey, Duane L., Jiang, Haiyan, Evans, Susan C., Ferguson, Meghan, Matsuoka, Makoto, Nightingale, Mathew, Rideout, Andrea L., Provost, Sylvie, Bedard, Karen, Orr, Andrew, Dubé, Marie-Pierre, Ludman, Mark, Samuels, Mark E.
Published in American journal of human genetics (10.07.2009)
Published in American journal of human genetics (10.07.2009)
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Regulation of G1 Arrest and Apoptosis in Hypoxia by PERK and GCN2-Mediated eIF2α Phosphorylation
Liu, Yan, László, Csaba, Liu, Yi, Liu, Wei, Chen, Xiaozhuo, Evans, Susan C., Wu, Shiyong
Published in Neoplasia (New York, N.Y.) (01.01.2010)
Published in Neoplasia (New York, N.Y.) (01.01.2010)
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Mutations in a novel serine protease PRSS56 in families with nanophthalmos
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
Published in Molecular vision (2011)
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Published in Molecular vision (2011)
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An alternatively spliced HDM2 product increases p53 activity by inhibiting HDM2
EVANS, Susan C, VISWANATHAN, Meena, GRIER, Jason D, NARAYANA, Meera, EL-NAGGAR, Adel K, LOZANO, Guillermina
Published in Oncogene (05.07.2001)
Published in Oncogene (05.07.2001)
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Cyclin D1 polymorphism (G870A) and risk for esophageal adenocarcinoma
Casson, Alan G., Zheng, Zuoyu, Evans, Susan C., Geldenhuys, Laurette, van Zanten, Sander Veldhuyzen, Veugelers, Paul J., Porter, Geoffrey A., Guernsey, Duane L.
Published in Cancer (15.08.2005)
Published in Cancer (15.08.2005)
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Clinical implications of p53 tumor suppressor gene mutation and protein expression in esophageal adenocarcinomas: Results of a ten-year prospective study
Casson, Alan G., Evans, Susan C., Gillis, Amy, Porter, Geoffrey A., Veugelers, Paul, Darnton, S.Jane, Guernsey, Duane L., Hainaut, Pierre
Published in The Journal of thoracic and cardiovascular surgery (01.05.2003)
Published in The Journal of thoracic and cardiovascular surgery (01.05.2003)
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Mutational analysis of the cytoplasmic domain of β1,4-galactosyltransferase I: influence of phosphorylation on cell surface expression
Hathaway, Helen J., Evans, Susan C., Dubois, Daniel H., Foote, Cynthia I., Elder, Brooke H., Shur, Barry D.
Published in Journal of cell science (01.11.2003)
Published in Journal of cell science (01.11.2003)
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Journal Article
Microsatellite instability in esophageal adenocarcinoma
Evans, Susan C., Gillis, Amy, Geldenhuys, Laurette, Vaninetti, Nadine M., Malatjalian, Dickran A., Porter, Geoffrey A., Guernsey, Duane L., Casson, Alan G.
Published in Cancer letters (30.08.2004)
Published in Cancer letters (30.08.2004)
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A novel genetic modifier of p53, mop1, results in embryonic lethality
Evans, Susan C, Liang, Min, Amos, Christopher, Gu, Xiangjun, Lozano, Guillermina
Published in Mammalian genome (01.06.2004)
Published in Mammalian genome (01.06.2004)
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