Infantile Muscular Dystrophy in Canadian Aboriginals is an αB-Crystallinopathy

Por Del Bigio, Marc R., Chudley, Albert E., Sarnat, Harvey B., Campbell, Craig, Goobie, Sharan, Chodirker, Bernard N., Selcen, Duygu
Publicado em 2011

Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7

Por Goobie, Sharan, Popovic, Maja, Morrison, Jodi, Ellis, Lynda, Ginzberg, Hedy, Boocock, Graeme R. B., Ehtesham, Nadia, Bétard, Christine, Brewer, Carl G., Roslin, Nicole M., Hudson, Thomas J., Morgan, Kenneth, Fujiwara, T. Mary, Durie, Peter R., Rommens, Johanna M.
Publicado em 2001

VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

Por 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.
Publicado em 2012

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

Por Lowther, Chelsea, Speevak, Marsha, Armour, Christine M., Goh, Elaine S., Graham, Gail E., Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata J.M., Schultz, Lee-Anne, Morra, Antonella, Nicolson, Rob, Bikangaga, Peter, Samdup, Dawa, Zaazou, Mostafa, Boyd, Kerry, Jung, Jack H., Siu, Victoria, Rajguru, Manjulata, Goobie, Sharan, Tarnopolsky, Mark A., Prasad, Chitra, Dick, Paul T., Hussain, Asmaa S., Walinga, Margreet, Reijenga, Renske G., Gazzellone, Matthew, Lionel, Anath C., Marshall, Christian R., Scherer, Stephen W., Stavropoulos, Dimitri J., McCready, Elizabeth, Bassett, Anne S.
Publicado no Genet Med (2016)