Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation

por Armour, Christine M., Kersseboom, Simone, Yoon, Grace, Visser, Theo J.
Publicado 2015

Expanding the clinical spectrum of autosomal‐recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature

por Vincent, Krista M., Alrajhi, Afrah, Lazier, Joanna, Bonin, Brigitte, Lawrence, Sarah, Weiler, Gabrielle, Armour, Christine M.
Publicado 2022

Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada

por Dougan, Shelley D., Okun, Nan, Bellai-Dussault, Kara, Meng, Lynn, Howley, Heather E., Huang, Tianhua, Reszel, Jessica, Lanes, Andrea, Walker, Mark C., Armour, Christine M.
Publicado 2021

Primary care providers’ lived experiences of genetics in practice

por Harding, Brittany, Webber, Colleen, Ruhland, Lucia, Dalgarno, Nancy, Armour, Christine M., Birtwhistle, Richard, Brown, Glenn, Carroll, June C., Flavin, Michael, Phillips, Susan, MacKenzie, Jennifer J.
Publicado 2018

Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists

por Lazier, Joanna, Hartley, Taila, Brock, Jo-Ann, Caluseriu, Oana, Chitayat, David, Laberge, Anne-Marie, Langlois, Sylvie, Lauzon, Julie, Nelson, Tanya N, Parboosingh, Jillian, Stavropoulos, Dimitri J, Boycott, Kym, Armour, Christine M
Publicado 2022

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 2018

Maternal-Newborn Health System Changes and Outcomes in Ontario, Canada, During Wave 1 of the COVID-19 Pandemic—A Retrospective Study

por Roberts, Nicole F., Sprague, Ann E., Taljaard, Monica, Fell, Deshayne B., Ray, Joel G., Tunde-Byass, Modupe, Biringer, Anne, Barrett, Jon F.R., Khurshid, Faiza, Diaz, Sanober, Bellai-Dussault, Kara, Radke, Dana-Marie, Bisnaire, Lise M., Armour, Christine M., Joiner, Ian C., Walker, Mark C.
Publicado 2022

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 2015

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

por Lowther, Chelsea, Speevak, Marsha, Armour, Christine M., Goh, Elaine S., Graham, Gail E., Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata J.M., Schultz, Lee-Anne, Morra, Antonella, Nicolson, Rob, Bikangaga, Peter, Samdup, Dawa, Zaazou, Mostafa, Boyd, Kerry, Jung, Jack H., Siu, Victoria, Rajguru, Manjulata, Goobie, Sharan, Tarnopolsky, Mark A., Prasad, Chitra, Dick, Paul T., Hussain, Asmaa S., Walinga, Margreet, Reijenga, Renske G., Gazzellone, Matthew, Lionel, Anath C., Marshall, Christian R., Scherer, Stephen W., Stavropoulos, Dimitri J., McCready, Elizabeth, Bassett, Anne S.
Publicado 2016

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

por Rivière, Jean-Baptiste, Mirzaa, Ghayda M., O’Roak, Brian J., Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L., St-Onge, Judith, Schwartzentruber, Jeremy A., Gripp, Karen W., Nikkel, Sarah M., Worthylake, Thea, Sullivan, Christopher T., Ward, Thomas R., Butler, Hailly E., Kramer, Nancy A., Albrecht, Beate, Armour, Christine M., Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A., Innes, A. Micheil, Lauzon, Julie L., Lin, Angela E., Mancini, Grazia M. S., Meschino, Wendy S., Reggin, James D., Saggar, Anand K., Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Shendure, Jay, Graham, John M., Boycott, Kym M., Dobyns, William B.
Publicado 2012