Alpha(1)-antitrypsin deficiency: a clinical-genetic overview

Por Abboud, Raja T, Nelson, Tanya N, Jung, Benjamin, Mattman, Andre
Publicado em 2011

Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia

Por Sinclair, Graham, McMahon, Vanessa, Schellenberg, Amy, Nelson, Tanya N., Chilvers, Mark, Vallance, Hilary
Publicado no Int J Neonatal Screen (2020)

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)

CCMG practice guideline: laboratory guidelines for next-generation sequencing

Por Hume, Stacey, Nelson, Tanya N, Speevak, Marsha, McCready, Elizabeth, Agatep, Ron, Feilotter, Harriet, Parboosingh, Jillian, Stavropoulos, Dimitri J, Taylor, Sherryl, Stockley, Tracy L
Publicado no J Med Genet (2019)

Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

Por Armour, Christine M, Dougan, Shelley Danielle, Brock, Jo-Ann, Chari, Radha, Chodirker, Bernie N, DeBie, Isabelle, Evans, Jane A, Gibson, William T, Kolomietz, Elena, Nelson, Tanya N, Tihy, Frédérique, Thomas, Mary Ann, Stavropoulos, Dimitri J
Publicado no J Med Genet (2018)

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)

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

Por Bombard, Yvonne, Brothers, Kyle B., Fitzgerald-Butt, Sara, Garrison, Nanibaa’ A., Jamal, Leila, James, Cynthia A., Jarvik, Gail P., McCormick, Jennifer B., Nelson, Tanya N., Ormond, Kelly E., Rehm, Heidi L., Richer, Julie, Souzeau, Emmanuelle, Vassy, Jason L., Wagner, Jennifer K., Levy, Howard P.
Publicado no Am J Hum Genet (2019)

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Por Sleven, Hannah, Welsh, Seth J., Yu, Jing, Churchill, Mair E.A., Wright, Caroline F., Henderson, Alex, Horvath, Rita, Rankin, Julia, Vogt, Julie, Magee, Alex, McConnell, Vivienne, Green, Andrew, King, Mary D., Cox, Helen, Armstrong, Linlea, Lehman, Anna, Nelson, Tanya N., Williams, Jonathan, Clouston, Penny, Hagman, James, Németh, Andrea H.
Publicado no Am J Hum Genet (2017)

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)

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)

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

Por McLarren, Keith W., Severson, Tesa M., du Souich, Christèle, Stockton, David W., Kratz, Lisa E., Cunningham, David, Hendson, Glenda, Morin, Ryan D., Wu, Diane, Paul, Jessica E., An, Jianghong, Nelson, Tanya N., Chou, Athena, DeBarber, Andrea E., Merkens, Louise S., Michaud, Jacques L., Waters, Paula J., Yin, Jingyi, McGillivray, Barbara, Demos, Michelle, Rouleau, Guy A., Grzeschik, Karl-Heinz, Smith, Raffaella, Tarpey, Patrick S., Shears, Debbie, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Arbour, Laura, Hurlburt, Jane, Van Allen, Margot I., Herman, Gail E., Zhao, Yongjun, Moore, Richard, Kelley, Richard I., Jones, Steven J.M., Steiner, Robert D., Raymond, F. Lucy, Marra, Marco A., Boerkoel, Cornelius F.
Publicado em 2010