Autonomy and the patient's right ‘not to know' in clinical whole-genomic sequencing

Por Townsend, Anne, Rousseau, Francois, Friedman, Jan, Adam, Shelin, Lohn, Zoe, Birch, Patricia
Publicado em 2014

Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases

Por Kleiderman, Erika, Knoppers, Bartha Maria, Fernandez, Conrad V, Boycott, Kym M, Ouellette, Gail, Wong-Rieger, Durhane, Adam, Shelin, Richer, Julie, Avard, Denise
Publicado em 2014

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome‐wide sequencing in British Columbia

Por Elliott, Alison M., du Souich, Christèle, Adam, Shelin, Dragojlovic, Nick, van Karnebeek, Clara, Nelson, Tanya N., Lehman, Anna, Lynd, Larry D., Friedman, Jan M.
Publicado no Mol Genet Genomic Med (2018)

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Por Demos, Michelle K, van Karnebeek, Clara DM, Ross, Colin JD, Adam, Shelin, Shen, Yaoqing, Zhan, Shing Hei, Shyr, Casper, Horvath, Gabriella, Suri, Mohnish, Fryer, Alan, Jones, Steven JM, Friedman, Jan M
Publicado em 2014

Huntington Disease without CAG Expansion: Phenocopies or Errors in Assignment?

Por Andrew, Susan E., Goldberg, Y. Paul, Kremer, Berry, Squitieri, Ferdinando, Theilmann, Jane, Zeisler, Jutta, Telenius, Håkan, Adam, Shelin, Almquist, Elisabeth, Anvret, Maria, Lucotte, Gerard, Stoessl, A. Jon, Campanella, Giuseppe, Hayden, Michael R.
Publicado em 1994

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy

Por Guella, Ilaria, Huh, Linda, McKenzie, Marna B., Toyota, Eric B., Bebin, E. Martina, Thompson, Michelle L., Cooper, Gregory M., Evans, Daniel M., Buerki, Sarah E., Adam, Shelin, Van Allen, Margot I., Nelson, Tanya N., Connolly, Mary B., Farrer, Matthew J., Demos, Michelle
Publicado no Neurol Genet (2016)

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

Por Beaulieu, Chandree L., Majewski, Jacek, Schwartzentruber, Jeremy, Samuels, Mark E., Fernandez, Bridget A., Bernier, Francois P., Brudno, Michael, Knoppers, Bartha, Marcadier, Janet, Dyment, David, Adam, Shelin, Bulman, Dennis E., Jones, Steve J.M., Avard, Denise, Nguyen, Minh Thu, Rousseau, Francois, Marshall, Christian, Wintle, Richard F., Shen, Yaoqing, Scherer, Stephen W., Friedman, Jan M., Michaud, Jacques L., Boycott, Kym M.
Publicado em 2014

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Por Boycott, Kym, Hartley, Taila, Adam, Shelin, Bernier, Francois, Chong, Karen, Fernandez, Bridget A, Friedman, Jan M, Geraghty, Michael T, Hume, Stacey, Knoppers, Bartha M, Laberge, Anne-Marie, Majewski, Jacek, Mendoza-Londono, Roberto, Meyn, M Stephen, Michaud, Jacques L, Nelson, Tanya N, Richer, Julie, Sadikovic, Bekim, Skidmore, David L, Stockley, Tracy, Taylor, Sherry, van Karnebeek, Clara, Zawati, Ma'n H, Lauzon, Julie, Armour, Christine M
Publicado no J Med Genet (2015)

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Por Friedman, JM, Adam, Shelin, Arbour, Laura, Armstrong, Linlea, Baross, Agnes, Birch, Patricia, Boerkoel, Cornelius, Chan, Susanna, Chai, David, Delaney, Allen D, Flibotte, Stephane, Gibson, William T, Langlois, Sylvie, Lemyre, Emmanuelle, Li, H Irene, MacLeod, Patrick, Mathers, Joan, Michaud, Jacques L, McGillivray, Barbara C, Patel, Millan S, Qian, Hong, Rouleau, Guy A, Van Allen, Margot I, Yong, Siu-Li, Zahir, Farah R, Eydoux, Patrice, Marra, Marco A
Publicado em 2009

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Por Demos, Michelle, Guella, Ilaria, DeGuzman, Conrado, McKenzie, Marna B., Buerki, Sarah E., Evans, Daniel M., Toyota, Eric B., Boelman, Cyrus, Huh, Linda L., Datta, Anita, Michoulas, Aspasia, Selby, Kathryn, Bjornson, Bruce H., Horvath, Gabriella, Lopez-Rangel, Elena, van Karnebeek, Clara D. M., Salvarinova, Ramona, Slade, Erin, Eydoux, Patrice, Adam, Shelin, Van Allen, Margot I., Nelson, Tanya N., Bolbocean, Corneliu, Connolly, Mary B., Farrer, Matthew J.
Publicado no Front Neurol (2019)