9 Publications
2014
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
Kahle, Kristopher TKahle, Kristopher TMerner, Nancy DMerner, Nancy DFriedel, PerrineFriedel, PerrineSilayeva, LiliyaSilayeva, LiliyaLiang, BoLiang, BoKhanna, ArjunKhanna, ArjunShang, YuzeShang, YuzeLachance-Touchette, PamelaLachance-Touchette, PamelaBourassa, CynthiaBourassa, CynthiaLevert, AnnieLevert, AnnieDion, Patrick ADion, Patrick AWalcott, BrianWalcott, BrianSpiegelman, DanSpiegelman, DanDionne-Laporte, AlexandreDionne-Laporte, AlexandreHodgkinson, AlanHodgkinson, AlanAwadalla, PhilipAwadalla, PhilipNikbakht, HamidNikbakht, HamidMajewski, JacekMajewski, JacekCossette, PatrickCossette, PatrickDeeb, Tarek ZDeeb, Tarek ZMoss, Stephen JMoss, Stephen JMedina, IgorMedina, IgorRouleau, 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, NellyMerner, NancyHouston, JimBenteau, TammyGriffin, AnneDoucette, LanceStockley, TracyLauzon, 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, NMirzozoda, KKisselev, SMerner, NDion, PRouleau, GClark, 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 FMerner, Nancy DHodgkinson, Kathy AHouston, JimSyrris, PetrosBooth, ValerieConnors, SeanPantazis, AntoniosQuarta, GiovanniElliott, PerryMcKenna, 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 DGirard, Simon LCatoire, HélèneBourassa, Cynthia VBelzil, Véronique VRivière, Jean-BaptisteHince, PascaleLevert, AnnieDionne-Laporte, AlexandreSpiegelman, DanNoreau, AnneDiab, SabrinaSzuto, AnnaFournier, HélèneRaelson, JohnBelouchi, MajidPanisset, MichelCossette, PatrickDupré, NicolasBernard, GenevièveChouinard, SylvainDion, 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-BaptisteRivière, Jean-BaptisteRamalingam, SiriramLavastre, ValerieShekarabi, MasoudHolbert, SebastienLafontaine, JulieSrour, MyriamMerner, NancyRochefort, DanielHince, PascaleGaudet, RebeccaMes-Masson, Anne-MarieBaets, JonathanHoulden, Henry JBrais, BernardNicholson, Garth AVan Esch, HildeNafissi, ShahriarDe Jonghe, PeterReilly, Mary MTimmerman, VincentDion, 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, NDDion, 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, LanceDoucette, LanceMerner, Nancy DMerner, Nancy DCooke, SandraCooke, SandraIves, ElizabethIves, ElizabethGalutira, DanteGalutira, DanteWalsh, VanessaWalsh, VanessaWalsh, TomWalsh, TomMacLaren, LindaMaclaren, LindaMaclaren, LindaCater, TraceyCater, TraceyFernandez, BridgetFernandez, BridgetGreen*, Jane SGreen, Jane SGreen, JaneWilcox, Edward RWilcox, Edward RShotland, LarryShotland*, LarryShotland, LarryLi, X CLi*, X. CLi, XLee*, MingLee, MingLee, MingKing, Mary ClaireKing, Mary-claireYoung, 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, LanceDoucette, LanceMerner, Nancy DMerner, Nancy DCooke, SandraCooke, SandraIves, ElizabethIves, ElizabethGalutira, DanteGalutira, DanteWalsh, VanessaWalsh, VanessaWalsh, TomWalsh, TomMacLaren, LindaMaclaren, LindaMaclaren, LindaCater, TraceyCater, TraceyFernandez, BridgetFernandez, BridgetGreen, Jane SGreen, Jane SWilcox, Edward RWilcox, Edward RShotland, Lawrence IShotland, LarryShotland, LarryLi, Xiaoyan CLi, X CLee, MingLi, Xiaoyan CindyLee, MingLi, X CKing, Mary ClaireKing, Mary-claireYoung, Terry LynnYoung, Terry-lynnLee, MingKing, Mary-Claire and Young, Terry-Lynn
European journal of human genetics : EJHG, vol. 17, (no. 5), pp. 554-64, 2009/May. | Journal Article