Search Results - "Armour, Christine"

Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation by Armour, Christine M, Kersseboom, Simone, Yoon, Grace, Visser, Theo J

“…Mutations in the thyroid hormone (TH) transporter MCT8 have been identified as the cause for Allan-Herndon-Dudley Syndrome (AHDS), characterized by severe…”
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CAManim: Animating end-to-end network activation maps by Kaczmarek, Emily, Miguel, Olivier X, Bowie, Alexa C, Ducharme, Robin, Dingwall-Harvey, Alysha L J, Hawken, Steven, Armour, Christine M, Walker, Mark C, Dick, Kevin

“…Deep neural networks have been widely adopted in numerous domains due to their high performance and accessibility to developers and application-specific…”
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The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists by 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

“…The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and…”
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Application of exome sequencing for prenatal diagnosis: a rapid scoping review by Pratt, Misty, Garritty, Chantelle, Thuku, Micere, Esmaeilisaraji, Leila, Hamel, Candyce, Hartley, Taila, Millar, Kathryn, Skidmore, Becky, Dougan, Shelley, Armour, Christine M.

“…Genetic diagnosis provides important information for prenatal decision-making and management. Promising results from exome sequencing (ES) for genetic…”
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Cytogenetic outcomes following a failed cell-free DNA screen: a population-based retrospective cohort study of 35,146 singleton pregnancies by Bellai-Dussault, Kara, Meng, Lynn, Howley, Heather, Reszel, Jessica, Huang, Tianhua, Lanes, Andrea, Walker, Mark C., Okun, Nan, Dougan, Shelley D., Armour, Christine M.

“…Cell-free fetal DNA screening is routinely offered to pregnant individuals to screen for aneuploidies. Although cell-free DNA screening is consistently more…”
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Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome by Aref‐Eshghi, Erfan, Bourque, Danielle K., Kerkhof, Jennifer, Carere, Deanna Alexis, Ainsworth, Peter, Sadikovic, Bekim, Armour, Christine M., Lin, Hanxin

“…Nontruncating sequence variants represent a major challenge in variant interpretation and classification. Here, we report a patient with features of Kabuki…”
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The Transformative Potential of AI in Obstetrics and Gynaecology by Dick, Kevin, Humber, James, Ducharme, Robin, Dingwall-Harvey, Alysha, Armour, Christine M., Hawken, Steven, Walker, Mark C.

“…The transformative power of artificial intelligence (AI) is reshaping diverse domains of medicine. Recent progress, catalyzed by computing advancements, has…”
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First and second trimester maternal serum markers for prenatal aneuploidy screening: An update on the adjustment factors for race, smoking, and insulin dependent diabetes mellitus by Huang, Tianhua, Bellai-Dussault, Kara, Meng, Lynn, Hull, Danna, Howley, Heather, Reszel, Jessica, Lanes, Andrea, Walker, Mark, Armour, Christine M., Okun, Nan, Dougan, Shelley D.

“…•Serum markers for aneuploidy screening are influenced by maternal characteristics.•Adjustments are needed before marker measurements can be used for risk…”
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Deep learning prediction of renal anomalies for prenatal ultrasound diagnosis by Miguel, Olivier X., Kaczmarek, Emily, Lee, Inok, Ducharme, Robin, Dingwall-Harvey, Alysha L. J., Rennicks White, Ruth, Bonin, Brigitte, Aviv, Richard I., Hawken, Steven, Armour, Christine M., Dick, Kevin, Walker, Mark C.

“…Deep learning algorithms have demonstrated remarkable potential in clinical diagnostics, particularly in the field of medical imaging. In this study, we…”
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Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada by 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

“…The emergence of cell-free fetal DNA (cfDNA) testing technology has disrupted the landscape of prenatal screening for trisomies 21 (T21) and 18 (T18). Publicly…”
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The value of diagnostic testing for parents of children with rare genetic diseases by Marshall, Deborah A., MacDonald, Karen V., Heidenreich, Sebastian, Hartley, Taila, Bernier, Francois P., Gillespie, Meredith K., McInnes, Brenda, Innes, A. Micheil, Armour, Christine M., Boycott, Kym M.

“…Purpose Exome sequencing (ES) can rapidly identify disease-causing variants responsible for rare, single-gene diseases, and potentially reduce the duration of…”
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Pregnancies with 'double-positive' multiple marker screening results: a population-based study in Ontario, Canada by Bellai-Dussault, Kara, Dougan, Shelley D, Fell, Deshayne B, Hawken, Steven, Huang, Tianhua, Venegas, Carolina Lavin, Little, Julian, Meng, Lynn, Okun, Nan, Walker, Mark, Armour, Christine M, Potter, Beth K

“…Multiple marker screening is offered to pregnant individuals in many jurisdictions to screen for trisomies 21 and 18. On occasion, the result is…”
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The Clinician-Reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity by Hayeems, Robin Z., Luca, Stephanie, Xiao, Bowen, Boswell-Patterson, Christie, Venegas, Carolina Lavin, Abi Semaan, Clarissa R., Kolar, Tessa, Myles-Reid, Diane, Chad, Lauren, Dyment, David, Boycott, Kym M., Lazier, Joanna, Ungar, Wendy J., Armour, Christine M.

“…To develop and assess the face and construct validity of the Clinician-Reported Genetic Testing Utility Index (C-GUIDE) for genetic testing in prenatal care…”
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Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression by 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.

“…The purpose of the current study was to assess the penetrance of NRXN1 deletions. We compared the prevalence and genomic extent of NRXN1 deletions identified…”
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Health-care practitioners’ preferences for the return of secondary findings from next-generation sequencing: a discrete choice experiment by Jiang, Shan, Anis, Aslam H., Cromwell, Ian, Mohammadi, Tima, Schrader, Kasmintan A., Lucas, Janet, Armour, Christine M., Clausen, Marc, Bombard, Yvonne, Regier, Dean A.

“…Purpose Health-care practitioners’ (HCPs) preferences for returning secondary findings (SFs) will influence guideline compliance, shared decision-making, and…”
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Outcomes of pregnancies with varying levels of nuchal translucency measurements: A population-based retrospective study in Ontario, Canada by Bellai-Dussault, Kara, Dougan, Shelley D, Fell, Deshayne B, Lavin Venegas, Carolina, Little, Julian, Meng, Lynn, Okun, Nan, Walker, Mark, Armour, Christine M, Potter, Beth K

“…Nuchal translucency prenatal ultrasound is widely used to screen for chromosomal abnormalities. An elevated nuchal translucency has been associated with…”
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NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes by McNiven, Vanda, Ito, Yoko A., Hartley, Taila, Kernohan, Kristin, Miller, Elka, Armour, Christine M.

“…Autosomal dominant Dandy‐Walker malformation and occipital cephalocele (ADDWOC) is a rare, congenital, and incompletely penetrant malformation that is…”
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Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay by Daoud, Hussein, Zhang, Dong, McMurray, Fiona, Yu, Andrea, Luco, Stephanie M, Vanstone, Jason, Jarinova, Olga, Carson, Nancy, Wickens, James, Shishodia, Shifali, Choi, Hwanho, McDonough, Michael A, Schofield, Christopher J, Harper, Mary-Ellen, Dyment, David A, Armour, Christine M

“…A homozygous loss-of-function mutation p.(Arg316Gln) in the fat mass and obesity-associated (FTO) gene, which encodes for an iron and 2-oxoglutarate-dependent…”
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Survey of the Definition of Fetal Viability and the Availability, Indications, and Decision Making Processes for Post-Viability Termination of Pregnancy for Fetal Abnormalities and Health Conditions in Canada by Hull, Danna, Davies, Gregory, Armour, Christine M.

“…The purpose of this study was to explore the definition of fetal viability and the availability, indications, and decision making processes for post-viability…”
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Primary care providers’ lived experiences of genetics in practice by 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.

“…To effectively translate genetic advances into practice, engagement of primary care providers (PCPs) is essential. Using a qualitative, phenomenological…”
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