Exome sequencing in genetic disease: recent advances and considerations

av Ross, Jay P., Dion, Patrick A., Rouleau, Guy A.
I publikationen F1000Res (2020)

Analysis of CYP27B1 in multiple sclerosis

av Ross, Jay P, Bernales, Cecily Q, Lee, Joshua D, Sadovnick, A Dessa, Traboulsee, Anthony L, Vilariño-Güell, Carles
I publikationen J Neuroimmunol (2013)

Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression

av Traboulsee, Anthony L., Bernales, Cecily Q., Ross, Jay P., Lee, Joshua D., Sadovnick, A. Dessa, Vilariño-Güell, Carles
I publikationen Neurogenetics (2014)

Colony stimulation factor 1 receptor (CSF1R) is not a common cause of multiple sclerosis

av Sadovnick, A Dessa, Traboulsee, Anthony L, Lee, Joshua D, Ross, Jay P, Bernales, Cecily Q, Vilariño-Güell, Carles
I publikationen Eur J Neurol (2013)

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

av Akçimen, Fulya, Sarayloo, Faezeh, Liao, Calwing, Ross, Jay P., Oliveira, Rachel De Barros, Dion, Patrick A., Rouleau, Guy A.
I publikationen Commun Biol (2020)

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

av Mallett, Victoria, Ross, Jay P., Alcalay, Roy N., Ambalavanan, Amirthagowri, Sidransky, Ellen, Dion, Patrick A., Rouleau, Guy A., Gan-Or, Ziv
I publikationen Neurol Genet (2016)

Progressive multiple sclerosis does not associate with rs996343 and rs2046748

av Bernales, Cecily Q, Ross, Jay P, Lee, Joshua D, Zhao, Yinshan, Sadovnick, A Dessa, Traboulsee, Anthony L, Vilariño-Güell, Carles
I publikationen Mult Scler (2013)

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

av Ross, Jay P., Leblond, Claire S., Catoire, Hélène, Volkening, Kathryn, Strong, Michael, Zinman, Lorne, Robertson, Janice, Dion, Patrick A., Rouleau, Guy A.
I publikationen Neurol Genet (2019)

Identification of FUS p.R377W in essential tremor

av Rajput, Alex, Rajput, Ali H, Rajput, Michele L, Encarnacion, Mary, Bernales, Cecily Q, Ross, Jay P, Farrer, Matthew J, Vilariño-Güell, Carles
I publikationen Eur J Neurol (2013)

Analysis of CH25H in multiple sclerosis and neuromyelitis optica

av Forwell, Amanda L, Bernales, Cecily Q, Ross, Jay P, Yee, Irene M, Encarnacion, Mary, Lee, Joshua D, Sadovnick, A Dessa, Traboulsee, Anthony L, Vilariño-Güell, Carles
I publikationen J Neuroimmunol (2015)

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

av 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.
I publikationen PLoS One (2019)

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

av 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
I publikationen Hum Genomics (2019)

VPS35 and DNAJC13 disease-causing variants in essential tremor

av Rajput, Alex, Ross, Jay P, Bernales, Cecily Q, Rayaprolu, Sruti, Soto-Ortolaza, Alexandra I, Ross, Owen A, van Gerpen, Jay, Uitti, Ryan J, Wszolek, Zbigniew K, Rajput, Ali H, Vilariño-Güell, Carles
I publikationen Eur J Hum Genet (2015)

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

av 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.
I publikationen Front Genet (2019)

SLC1A2 rs3764087 does not associate with essential tremor

av Ross, Jay P, Rayaprolu, Sruti, Bernales, Cecily Q, Soto-Ortolaza, Alexandra I, van Gerpen, Jay, Uitti, Ryan J, Wszolek, Zbigniew K, Rajput, Alex, Rajput, Ali H, Rajput, Michele L, Ross, Owen A, Vilariño-Güell, Carles
I publikationen Neurobiol Aging (2013)

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

av 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.
I publikationen Sci Rep (2018)

Nuclear receptor NR1H3 in familial multiple sclerosis

av Wang, Zhe, Sadovnick, A. Dessa, Traboulsee, Anthony L., Ross, Jay P., Bernales, Cecily Q., Encarnacion, Mary, Yee, Irene M., de Lemos, Madonna, Greenwood, Talitha, Lee, Joshua D., Wright, Galen, Ross, Colin J., Zhang, Si, Song, Weihong, Vilariño-Güell, Carles
I publikationen Neuron (2016)

Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease

av 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.
I publikationen Neurol Genet (2021)

Evolution of a Human-Specific Tandem Repeat Associated with ALS

av Course, Meredith M., Gudsnuk, Kathryn, Smukowski, Samuel N., Winston, Kosuke, Desai, Nitin, Ross, Jay P., Sulovari, Arvis, Bourassa, Cynthia V., Spiegelman, Dan, Couthouis, Julien, Yu, Chang-En, Tsuang, Debby W., Jayadev, Suman, Kay, Mark A., Gitler, Aaron D., Dupre, Nicolas, Eichler, Evan E., Dion, Patrick A., Rouleau, Guy A., Valdmanis, Paul N.
I publikationen Am J Hum Genet (2020)

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

av 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
I publikationen G3 (Bethesda) (2016)