9 Publications
2014
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
Kahle, Kristopher T⋅Kahle, Kristopher T⋅Merner, Nancy D⋅Merner, Nancy D⋅Friedel, Perrine⋅Friedel, Perrine⋅Silayeva, Liliya⋅Silayeva, Liliya⋅Liang, Bo⋅Liang, Bo⋅Khanna, Arjun⋅Khanna, Arjun⋅Shang, Yuze⋅Shang, Yuze⋅Lachance-Touchette, Pamela⋅Lachance-Touchette, Pamela⋅Bourassa, Cynthia⋅Bourassa, Cynthia⋅Levert, Annie⋅Levert, Annie⋅Dion, Patrick A⋅Dion, Patrick A⋅Walcott, Brian⋅Walcott, Brian⋅Spiegelman, Dan⋅Spiegelman, Dan⋅Dionne-Laporte, Alexandre⋅Dionne-Laporte, Alexandre⋅Hodgkinson, Alan⋅Hodgkinson, Alan⋅Awadalla, Philip⋅Awadalla, Philip⋅Nikbakht, Hamid⋅Nikbakht, Hamid⋅Majewski, Jacek⋅Majewski, Jacek⋅Cossette, Patrick⋅Cossette, Patrick⋅Deeb, Tarek Z⋅Deeb, Tarek Z⋅Moss, Stephen J⋅Moss, Stephen J⋅Medina, Igor⋅Medina, Igor⋅Rouleau, Guy A and Rouleau, Guy A
EMBO reports, vol. 15, (no. 7), pp. 766-774, July 2014. | Journal Article
2013
A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.
Abdelfatah, Nelly⋅Merner, Nancy⋅Houston, Jim⋅Benteau, Tammy⋅Griffin, Anne⋅Doucette, Lance⋅Stockley, Tracy⋅Lauzon, Julie L and Young, Terry Lynn
Human mutation, vol. 34, (no. 1), pp. 66-9, 2013/Jan. | Journal Article
 
Genetic analysis of the FUS/TLS gene in essential tremor.
Parmalee, N⋅Mirzozoda, K⋅Kisselev, S⋅Merner, N⋅Dion, P⋅Rouleau, G⋅Clark, L and Louis, E D
European journal of neurology, vol. 20, (no. 3), pp. 534-539, March 2013. | Journal Article
 
Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.
Haywood, Annika F⋅Merner, Nancy D⋅Hodgkinson, Kathy A⋅Houston, Jim⋅Syrris, Petros⋅Booth, Valerie⋅Connors, Sean⋅Pantazis, Antonios⋅Quarta, Giovanni⋅Elliott, Perry⋅McKenna, William and Young, Terry Lynn
European heart journal, vol. 34, (no. 13), pp. 1002-11, 2013/Apr. | Journal Article
2012
Exome sequencing identifies FUS mutations as a cause of essential tremor.
Merner, Nancy D⋅Girard, Simon L⋅Catoire, Hélène⋅Bourassa, Cynthia V⋅Belzil, Véronique V⋅Rivière, Jean-Baptiste⋅Hince, Pascale⋅Levert, Annie⋅Dionne-Laporte, Alexandre⋅Spiegelman, Dan⋅Noreau, Anne⋅Diab, Sabrina⋅Szuto, Anna⋅Fournier, Hélène⋅Raelson, John⋅Belouchi, Majid⋅Panisset, Michel⋅Cossette, Patrick⋅Dupré, Nicolas⋅Bernard, Geneviève⋅Chouinard, Sylvain⋅Dion, Patrick A and Rouleau, Guy
American journal of human genetics, vol. 91, (no. 2), pp. 313-9, 2012/Aug/10. | Journal Article
2011
KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2
Riviere, Jean-Baptiste⋅Rivière, Jean-Baptiste⋅Ramalingam, Siriram⋅Lavastre, Valerie⋅Shekarabi, Masoud⋅Holbert, Sebastien⋅Lafontaine, Julie⋅Srour, Myriam⋅Merner, Nancy⋅Rochefort, Daniel⋅Hince, Pascale⋅Gaudet, Rebecca⋅Mes-Masson, Anne-Marie⋅Baets, Jonathan⋅Houlden, Henry J⋅Brais, Bernard⋅Nicholson, Garth A⋅Van Esch, Hilde⋅Nafissi, Shahriar⋅De Jonghe, Peter⋅Reilly, Mary M⋅Timmerman, Vincent⋅Dion, Patrick A and Rouleau, Guy
American Journal of Human Genetics, vol. 89, (no. 2), pp. 219-230, 2011. | Journal Article
 
Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders
Merner, Nd⋅Dion, PA and Rouleau, Guy
Clinical Genetics, vol. 79, (no. 1), pp. 23-34, Jan 2011. | Journal Article
2009
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15
Doucette, Lance⋅Doucette, Lance⋅Merner, Nancy D⋅Merner, Nancy D⋅Cooke, Sandra⋅Cooke, Sandra⋅Ives, Elizabeth⋅Ives, Elizabeth⋅Galutira, Dante⋅Galutira, Dante⋅Walsh, Vanessa⋅Walsh, Vanessa⋅Walsh, Tom⋅Walsh, Tom⋅MacLaren, Linda⋅Maclaren, Linda⋅Maclaren, Linda⋅Cater, Tracey⋅Cater, Tracey⋅Fernandez, Bridget⋅Fernandez, Bridget⋅Green*, Jane S⋅Green, Jane S⋅Green, Jane⋅Wilcox, Edward R⋅Wilcox, Edward R⋅Shotland, Larry⋅Shotland*, Larry⋅Shotland, Larry⋅Li, X C⋅Li*, X. C⋅Li, X⋅Lee*, Ming⋅Lee, Ming⋅Lee, Ming⋅King, Mary Claire⋅King, Mary-claire⋅Young, Terry-lynn and Young, Terry Lynn
European Journal of Human Genetics, vol. 17, (no. 10), pp. 1363-1363, 2009. | Journal Article
 
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
Doucette, Lance⋅Doucette, Lance⋅Merner, Nancy D⋅Merner, Nancy D⋅Cooke, Sandra⋅Cooke, Sandra⋅Ives, Elizabeth⋅Ives, Elizabeth⋅Galutira, Dante⋅Galutira, Dante⋅Walsh, Vanessa⋅Walsh, Vanessa⋅Walsh, Tom⋅Walsh, Tom⋅MacLaren, Linda⋅Maclaren, Linda⋅Maclaren, Linda⋅Cater, Tracey⋅Cater, Tracey⋅Fernandez, Bridget⋅Fernandez, Bridget⋅Green, Jane S⋅Green, Jane S⋅Wilcox, Edward R⋅Wilcox, Edward R⋅Shotland, Lawrence I⋅Shotland, Larry⋅Shotland, Larry⋅Li, Xiaoyan C⋅Li, X C⋅Lee, Ming⋅Li, Xiaoyan Cindy⋅Lee, Ming⋅Li, X C⋅King, Mary Claire⋅King, Mary-claire⋅Young, Terry Lynn⋅Young, Terry-lynn⋅Lee, Ming⋅King, Mary-Claire and Young, Terry-Lynn
European journal of human genetics : EJHG, vol. 17, (no. 5), pp. 554-64, 2009/May. | Journal Article