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

nork Abboud, Raja T, Nelson, Tanya N, Jung, Benjamin, Mattman, Andre
Argitaratua 2011

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

nork Sinclair, Graham, McMahon, Vanessa, Schellenberg, Amy, Nelson, Tanya N., Chilvers, Mark, Vallance, Hilary
Argitaratua izan da Int J Neonatal Screen (2020)

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

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

CCMG practice guideline: laboratory guidelines for next-generation sequencing

nork Hume, Stacey, Nelson, Tanya N, Speevak, Marsha, McCready, Elizabeth, Agatep, Ron, Feilotter, Harriet, Parboosingh, Jillian, Stavropoulos, Dimitri J, Taylor, Sherryl, Stockley, Tracy L
Argitaratua izan da 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

nork 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
Argitaratua izan da J Med Genet (2018)

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

nork 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
Argitaratua izan da Neurol Genet (2016)

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

nork 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.
Argitaratua izan da Am J Hum Genet (2019)

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

nork 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.
Argitaratua izan da 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

nork 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
Argitaratua izan da J Med Genet (2015)

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

nork 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.
Argitaratua izan da Front Neurol (2019)

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

nork 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.
Argitaratua 2010