Exome sequencing in genetic disease: recent advances and considerations

por Ross, Jay P., Dion, Patrick A., Rouleau, Guy A.
Publicado 2020

Investigation of the causal relationship between ALS and autoimmune disorders: a Mendelian randomization study

por Alipour, Paria, Senkevich, Konstantin, Ross, Jay P., Spiegelman, Dan, Manousaki, Despoina, Dion, Patrick A., Rouleau, Guy A.
Publicado 2022

Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes

por Akçimen, Fulya, Sarayloo, Faezeh, Liao, Calwing, Ross, Jay P., Oliveira, Rachel De Barros, Dion, Patrick A., Rouleau, Guy A.
Publicado 2020

GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis

por Mallett, Victoria, Ross, Jay P., Alcalay, Roy N., Ambalavanan, Amirthagowri, Sidransky, Ellen, Dion, Patrick A., Rouleau, Guy A., Gan-Or, Ziv
Publicado 2016

Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues

por Ross, Jay P., Leblond, Claire S., Catoire, Hélène, Volkening, Kathryn, Strong, Michael, Zinman, Lorne, Robertson, Janice, Dion, Patrick A., Rouleau, Guy A.
Publicado 2019

The value of testing for ATXN2 intermediate repeat expansions in routine clinical practice for amyotrophic lateral sclerosis

por Salmon, Kristiana, Ross, Jay P., Bertone, Vanessa, Gobbo, Maria, Anoja, Nancy, Karamchandani, Jason, Dion, Patrick A., Rouleau, Guy A., Genge, Angela
Publicado 2022

Transcriptomic effects of propranolol and primidone converge on molecular pathways relevant to essential tremor

por Castonguay, Charles-Etienne, Liao, Calwing, Khayachi, Anouar, Liu, Yumin, Medeiros, Miranda, Houle, Gabrielle, Ross, Jay P., Dion, Patrick A., Rouleau, Guy A.
Publicado 2022

Transcriptome-wide association study reveals increased neuronal FLT3 expression is associated with Tourette’s syndrome

por Liao, Calwing, Vuokila, Veikko, Catoire, Hélène, Akçimen, Fulya, Ross, Jay P., Bourassa, Cynthia V., Dion, Patrick A., Meijer, Inge A., Rouleau, Guy A.
Publicado 2022

Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis

por Ross, Jay P., Akçimen, Fulya, Liao, Calwing, Spiegelman, Dan, Weisburd, Ben, Dupré, Nicolas, Dion, Patrick A., Rouleau, Guy A., Farhan, Sali M.K.
Publicado 2022

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression

por Sarayloo, Faezeh, Dionne-Laporte, Alexandre, Catoire, Helene, Rochefort, Daniel, Houle, Gabrielle, Ross, Jay P., Akçimen, Fulya, Barros Oliveira, Rachel De, Turecki, Gustavo, Dion, Patrick A., Rouleau, Guy A.
Publicado 2019

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

por Spataro, Rossella, Kousi, Maria, Farhan, Sali M. K., Willer, Jason R., Ross, Jay P., Dion, Patrick A., Rouleau, Guy A., Daly, Mark J., Neale, Benjamin M., La Bella, Vincenzo, Katsanis, Nicholas
Publicado 2019

Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids

por Tamaki, Yoshitaka, Ross, Jay P., Alipour, Paria, Castonguay, Charles-Étienne, Li, Boting, Catoire, Helene, Rochefort, Daniel, Urushitani, Makoto, Takahashi, Ryosuke, Sonnen, Joshua A., Stifani, Stefano, Dion, Patrick A., Rouleau, Guy A.
Publicado 2023

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

por Akçimen, Fulya, Ross, Jay P., Bourassa, Cynthia V., Liao, Calwing, Rochefort, Daniel, Gama, Maria Thereza Drumond, Dicaire, Marie-Josée, Barsottini, Orlando G., Brais, Bernard, Pedroso, José Luiz, Dion, Patrick A., Rouleau, Guy A.
Publicado 2019

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

por 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.
Publicado 2018

Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease

por Oliveira, Lais M., Rastin, Tara, Nimmo, Graeme A.M., Ross, Jay P., Dion, Patrick A., Zhang, Ming, Nevay, Dayna-Lynn, Arkadir, David, Gotkine, Marc, Barnett, Carolina, Shoesmith, Christen L., Zimran, Ari, Rogaeva, Ekaterina A., Zinman, Lorne, Rouleau, Guy A., Gan-Or, Ziv, Amato, Dominick, Kalia, Lorraine V.
Publicado 2021

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

por Sadovnick, A. Dessa, Traboulsee, Anthony L., Bernales, Cecily Q., Ross, Jay P., Forwell, Amanda L., Yee, Irene M., Guillot-Noel, Lena, Fontaine, Bertrand, Cournu-Rebeix, Isabelle, Alcina, Antonio, Fedetz, Maria, Izquierdo, Guillermo, Matesanz, Fuencisla, Hilven, Kelly, Dubois, Bénédicte, Goris, An, Astobiza, Ianire, Alloza, Iraide, Antigüedad, Alfredo, Vandenbroeck, Koen, Akkad, Denis A., Aktas, Orhan, Blaschke, Paul, Buttmann, Mathias, Chan, Andrew, Epplen, Joerg T., Gerdes, Lisa-Ann, Kroner, Antje, Kubisch, Christian, Kümpfel, Tania, Lohse, Peter, Rieckmann, Peter, Zettl, Uwe K., Zipp, Frauke, Bertram, Lars, Lill, Christina M, Fernandez, Oscar, Urbaneja, Patricia, Leyva, Laura, Alvarez-Cermeño, Jose Carlos, Arroyo, Rafael, Garagorri, Aroa M., García-Martínez, Angel, Villar, Luisa M., Urcelay, Elena, Malhotra, Sunny, Montalban, Xavier, Comabella, Manuel, Berger, Thomas, Fazekas, Franz, Reindl, Markus, Schmied, Mascha C., Zimprich, Alexander, Vilariño-Güell, Carles
Publicado 2016

Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis

por Liao, Calwing, Castonguay, Charles-Etienne, Heilbron, Karl, Vuokila, Veikko, Medeiros, Miranda, Houle, Gabrielle, Akçimen, Fulya, Ross, Jay P., Catoire, Helene, Diez-Fairen, Monica, Kang, Jooeun, Mueller, Stefanie H., Girard, Simon L., Hopfner, Franziska, Lorenz, Delia, Clark, Lorraine N., Soto-Beasley, Alexandra I., Klebe, Stephan, Hallett, Mark, Wszolek, Zbigniew K., Pendziwiat, Manuela, Lorenzo-Betancor, Oswaldo, Seppi, Klaus, Berg, Daniela, Vilariño-Güell, Carles, Postuma, Ronald B., Bernard, Geneviève, Dupré, Nicolas, Jankovic, Joseph, Testa, Claudia M., Ross, Owen A., Arzberger, Thomas, Chouinard, Sylvain, Louis, Elan D., Mandich, Paola, Vitale, Carmine, Barone, Paolo, García-Martín, Elena, Alonso-Navarro, Hortensia, Agúndez, José A. G., Jiménez-Jiménez, Félix Javier, Pastor, Pau, Rajput, Alex, Deuschl, Günther, Kuhlenbaümer, Gregor, Meijer, Inge A., Dion, Patrick A., Rouleau, Guy A.
Publicado 2022

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

por van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Hübner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Robert H., Landers, John E., Shaw, Christopher E., Andersen, Peter M., Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., Veldink, Jan H.
Publicado 2021

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biolo...

por van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Hübner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Robert H., Landers, John E., Shaw, Christopher E., Andersen, Peter M., Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., Veldink, Jan H.
Publicado 2022