Search Results

Genetic architecture and adaptations of Nunavik Inuit - Dataset

by Sirui Zhou, Xiong, Lan, Dion, Patrick A., Rouleau, Guy A.
Published 2019

Genetic architecture and adaptations of Nunavik Inuit - Dataset

by Sirui Zhou, Xiong, Lan, Dion, Patrick A., Rouleau, Guy A.
Published 2019

A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family

by Rivière, Jean‐Baptiste, Verlaan, Dominique J., Shekarabi, Masoud, Lafrenière, Ronald G., Bénard, Mélanie, Der Kaloustian, Vazken M., Shbaklo, Zuhayr, Rouleau, Guy A.
Published in Annals of Neurology (2004)

Genetic architecture and adaptations of Nunavik Inuit

by Zhou, Sirui, Xie, Pingxing, Quoibion, Amélie, Ambalavanan, Amirthagowri, Dionne-Laporte, Alexandre, Spiegelman, Dan, Bourassa, Cynthia V., Xiong, Lan, Dion, Patrick A., Rouleau, Guy A.
Published in Proceedings of the National Academy of Sciences (2019)

Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population

by Xiong, Lan, Zhou, Sirui, Xie, Pingxing, Ambalavanan, Amirthagowri, Bourassa, Cynthia V., Dionne-Laporte, Alexandre, Spiegelman, Dan, Gauthier, Maude Turcotte, Henrion, Edouard, Diallo, Ousmane, Dion, Patrick A., Rouleau, Guy A.
Published 2015

Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population

by Xiong, Lan, Zhou, Sirui, Xie, Pingxing, Ambalavanan, Amirthagowri, Bourassa, Cynthia V., Dionne-Laporte, Alexandre, Spiegelman, Dan, Gauthier, Maude Turcotte, Henrion, Edouard, Diallo, Ousmane, Dion, Patrick A., Rouleau, Guy A.
Published 2015

Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population

by Zhou, Sirui, Xiong, Lan, Xie, Pingxing, Ambalavanan, Amirthagowri, Bourassa, Cynthia V., Dionne-Laporte, Alexandre, Spiegelman, Dan, Turcotte Gauthier, Maude, Henrion, Edouard, Diallo, Ousmane, Dion, Patrick A., Rouleau, Guy A.
Published in PLOS ONE (2015)

Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population

by Zhou, Sirui, Xiong, Lan, Xie, Pingxing, Ambalavanan, Amirthagowri, Bourassa, Cynthia V., Dionne-Laporte, Alexandre, Spiegelman, Dan, Turcotte Gauthier, Maude, Henrion, Edouard, Diallo, Ousmane, Dion, Patrick A., Rouleau, Guy A.
Published in PLOS ONE (2015)

Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

by Shekarabi, Masoud, Girard, Nathalie, Rivière, Jean-Baptiste, Dion, Patrick, Houle, Martin, Toulouse, André, Lafrenière, Ronald G., Vercauteren, Freya, Hince, Pascale, Laganiere, Janet, Rochefort, Daniel, Faivre, Laurence, Samuels, Mark, Rouleau, Guy A.
Published in Journal of Clinical Investigation (2008)

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

by Zhou, Sirui, Gan-Or, Ziv, Ambalavanan, Amirthagowri, Lai, Dongbing, Xie, Pingxing, Bourassa, Cynthia V., Strong, Stephanie, Ross, Jay P., Dionne-Laporte, Alexandre, Spiegelman, Dan, Dupré, Nicolas, Foroud, Tatiana M, Xiong, Lan, Dion, Patrick A., Rouleau, Guy A.
Published in Scientific Reports (2018)

CPT1A Missense Mutation Associated With Fatty Acid Metabolism and Reduced Height in Greenlanders

by Skotte, Line, Koch, Anders, Yakimov, Victor, Zhou, Sirui, Søborg, Bolette, Andersson, Mikael, Michelsen, Sascha W., Navne, Johan E., Mistry, Jacqueline M., Dion, Patrick A., Pedersen, Michael L., Børresen, Malene L., Rouleau, Guy A., Geller, Frank, Melbye, Mads, Feenstra, Bjarke
Published in Circulation: Cardiovascular Genetics (2017)

CPT1A Missense Mutation Associated with Fatty Acid Metabolism and Reduced Height in Greenlanders

by Skotte, Line, Koch, Anders, Yakimov, Victor, Zhou, Sirui, Søborg, Bolette, Andersson, Mikael, Michelsen, Sascha W., Navne, Johan E., Mistry, Jacqueline M., Dion, Patrick A., Pedersen, Michael L., Børresen, Malene L., Rouleau, Guy A., Geller, Frank, Melbye, Mads, Feenstra, Bjarke
Published in Circulation: Cardiovascular Genetics (2017)

A stop codon mutation in SCN9A causes lack of pain sensation

by Ahmad, Sultan, Dahllund, Leif, Eriksson, Anders B., Hellgren, Dennis, Karlsson, Urban, Lund, Per-Eric, Meijer, Inge A., Meury, Luc, Mills, Tracy, Moody, Adrian, Morinville, Anne, Morten, John, O'Donnell, Dajan, Raynoschek, Carina, Salter, Hugh, Rouleau, Guy A., Krupp, Johannes J.
Published in Human Molecular Genetics (2007)

A stop codon mutation in SCN9A causes lack of pain sensation

by Ahmad, Sultan, Dahllund, Leif, Eriksson, Anders B., Hellgren, Dennis, Karlsson, Urban, Lund, Per-Eric, Meijer, Inge A., Meury, Luc, Mills, Tracy, Moody, Adrian, Morinville, Anne, Morten, John, O'Donnell, Dajan, Raynoschek, Carina, Salter, Hugh, Rouleau, Guy A., Krupp, Johannes J.
Published in Human Molecular Genetics (2007)

A stop codon mutation in SCN9A causes lack of pain sensation

by Ahmad, Sultan, Dahllund, Leif, Eriksson, Anders B., Hellgren, Dennis, Karlsson, Urban, Lund, Per-Eric, Meijer, Inge A., Meury, Luc, Mills, Tracy, Moody, Adrian, Morinville, Anne, Morten, John, O'Donnell, Dajan, Raynoschek, Carina, Salter, Hugh, Rouleau, Guy A., Krupp, Johannes J.
Published in Human Molecular Genetics (2007)

VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

by Bourassa, Cynthia V., Meijer, Inge A., Merner, Nancy D., Grewal, Kanwal K., Stefanelli, Mark G., Hodgkinson, Kathleen, Ives, Elizabeth J., Pryse-Phillips, William, Jog, Mandar, Boycott, Kym, Grimes, David A., Goobie, Sharan, Leckey, Richard, Dion, Patrick A., Rouleau, Guy A.
Published in The American Journal of Human Genetics (2012)

VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

by Bourassa, Cynthia V., Meijer, Inge A., Merner, Nancy D., Grewal, Kanwal K., Stefanelli, Mark G., Hodgkinson, Kathleen, Ives, Elizabeth J., Pryse-Phillips, William, Jog, Mandar, Boycott, Kym, Grimes, David A., Goobie, Sharan, Leckey, Richard, Dion, Patrick A., Rouleau, Guy A.
Published in The American Journal of Human Genetics (2012)

Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates

by Lafrenière, Ronald G., MacDonald, Marcia L. E., Dubé, Marie-Pierre, MacFarlane, Julie, O’Driscoll, Mary, Brais, Bernard, Meilleur, Sébastien, Brinkman, Ryan R., Dadivas, Owen, Pape, Terry, Platon, Christèle, Radomski, Chris, Risler, Jenni, Thompson, Jay, Guerra-Escobio, Ana-Maria, Davar, Gudarz, Breakefield, Xandra O., Pimstone, Simon N., Green, Roger, Pryse-Phillips, William, Goldberg, Y. Paul, Younghusband, H. Banfield, Hayden, Michael R., Sherrington, Robin, Rouleau, Guy A., Samuels, Mark E.
Published 2004

Découverte d'un gène causant une ataxie spastique héréditaire dominante dans la population de Terre-Neuve

by Bourassa, Cynthia
Published 2012