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

per Abboud, Raja T, Nelson, Tanya N, Jung, Benjamin, Mattman, Andre
Publicat 2011

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

per Sinclair, Graham, McMahon, Vanessa, Schellenberg, Amy, Nelson, Tanya N., Chilvers, Mark, Vallance, Hilary
Publicat a Int J Neonatal Screen (2020)

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

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

CCMG practice guideline: laboratory guidelines for next-generation sequencing

per Hume, Stacey, Nelson, Tanya N, Speevak, Marsha, McCready, Elizabeth, Agatep, Ron, Feilotter, Harriet, Parboosingh, Jillian, Stavropoulos, Dimitri J, Taylor, Sherryl, Stockley, Tracy L
Publicat a 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

per 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
Publicat a J Med Genet (2018)

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

per 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
Publicat a Neurol Genet (2016)

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

per 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.
Publicat a Am J Hum Genet (2019)

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

per 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.
Publicat a 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

per 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
Publicat a J Med Genet (2015)

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

per 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.
Publicat a Front Neurol (2019)

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

per 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.
Publicat 2010