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

بواسطة Townsend, Anne, Rousseau, Francois, Friedman, Jan, Adam, Shelin, Lohn, Zoe, Birch, Patricia
منشور في 2014

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

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

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

بواسطة Elliott, Alison M., du Souich, Christèle, Adam, Shelin, Dragojlovic, Nick, van Karnebeek, Clara, Nelson, Tanya N., Lehman, Anna, Lynd, Larry D., Friedman, Jan M.
الحاوية / القاعدة Mol Genet Genomic Med (2018)

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

بواسطة 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
منشور في 2014

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

بواسطة 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.
منشور في 1994

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

بواسطة 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
الحاوية / القاعدة Neurol Genet (2016)

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

بواسطة 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.
منشور في 2014

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

بواسطة 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
الحاوية / القاعدة J Med Genet (2015)

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

بواسطة 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
منشور في 2009

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

بواسطة 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.
الحاوية / القاعدة Front Neurol (2019)