De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures

por Yang, Ping, Broadbent, Robert, Prasad, Chitra, Levin, Simon, Goobie, Sharan, Knoll, Joan H., Prasad, Asuri N.
Publicado 2021

ALU transposition induces familial hypertrophic cardiomyopathy

por Nfonsam, Landry, Huang, Lijia, Carson, Nancy, McGowan‐Jordan, Jean, Beaulieu Bergeron, Melanie, Goobie, Sharan, Conacher, Susan, McCarty, David, Benson, Lee, Hewson, Stacy, Zahavich, Laura, Sinclair‐Bourque, Elizabeth, Smith, Amanda, Potter, Ryan, Ghani, Mahdi, Bronicki, Lucas, Jarinova, Olga
Publicado 2019

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 2016

Families’ healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study

por Chow, Andrea J, Iverson, Ryan, Lamoureux, Monica, Tingley, Kylie, Jordan, Isabel, Pallone, Nicole, Smith, Maureen, Al-Baldawi, Zobaida, Chakraborty, Pranesh, Brehaut, Jamie, Chan, Alicia, Cohen, Eyal, Dyack, Sarah, Gillis, Lisa Jane, Goobie, Sharan, Graham, Ian D, Greenberg, Cheryl R, Grimshaw, Jeremy M, Hayeems, Robin Z, Jain-Ghai, Shailly, Jolly, Ann, Khangura, Sara, MacKenzie, Jennifer J, Major, Nathalie, Mitchell, John J, Nicholls, Stuart G, Pender, Amy, Potter, Murray, Prasad, Chitra, Prosser, Lisa A, Schulze, Andreas, Siriwardena, Komudi, Sparkes, Rebecca, Speechley, Kathy, Stockler, Sylvia, Taljaard, Monica, Teitelbaum, Mari, Trakadis, Yannis, van Karnebeek, Clara, Walia, Jagdeep S, Wilson, Brenda J, Wilson, Kumanan, Potter, Beth K
Publicado 2022

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Me...

por Tingley, Kylie, Lamoureux, Monica, Pugliese, Michael, Geraghty, Michael T., Kronick, Jonathan B., Potter, Beth K., Coyle, Doug, Wilson, Kumanan, Kowalski, Michael, Austin, Valerie, Brunel-Guitton, Catherine, Buhas, Daniela, Chan, Alicia K. J., Dyack, Sarah, Feigenbaum, Annette, Giezen, Alette, Goobie, Sharan, Greenberg, Cheryl R., Ghai, Shailly Jain, Inbar-Feigenberg, Michal, Karp, Natalya, Kozenko, Mariya, Langley, Erica, Lines, Matthew, Little, Julian, MacKenzie, Jennifer, Maranda, Bruno, Mercimek-Andrews, Saadet, Mohan, Connie, Mhanni, Aizeddin, Mitchell, Grant, Mitchell, John J., Nagy, Laura, Napier, Melanie, Pender, Amy, Potter, Murray, Prasad, Chitra, Ratko, Suzanne, Salvarinova, Ramona, Schulze, Andreas, Siriwardena, Komudi, Sondheimer, Neal, Sparkes, Rebecca, Stockler-Ipsiroglu, Sylvia, Trakadis, Yannis, Turner, Lesley, Van Karnebeek, Clara, Vallance, Hilary, Vandersteen, Anthony, Walia, Jagdeep, Wilson, Ashley, Wilson, Brenda J., Yu, Andrea C., Yuskiv, Nataliya, Chakraborty, Pranesh
Publicado 2020