Search Results - "Macdonald, Stella K."

RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report by Marshall, Aren E, MacDonald, Stella K, Liang, Yijing, Couse, Madeline, Boycott, Kym M, Richer, Julie, Kernohan, Kristin D

“…Intronic variants outside the canonical splice site are challenging to interpret and therefore likely represent an underreported cause of human disease…”
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SMG9‐deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder by Lemire, Gabrielle, MacDonald, Stella K., Boycott, Kym M.

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A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy by Del Gobbo, Giulia F., Wang, Xueqi, MacDonald, Stella K., Liang, Yijing, McMillan, Hugh J., Lemire, Gabrielle, Boycott, Kym M.

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A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin‐Siris syndrome by MacDonald, Stella K., Marshall, Aren E., Lemire, Gabrielle, Hartley, Taila, Kernohan, Kristin D., Boycott, Kym M.

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Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study by Hartley, Taila, Marshall, Deborah, Acker, Meryl, Fooks, Katharine, Gillespie, Meredith K., Price, E. Magda, Graham, Ian D., White-Brown, Alexandre, MacKay, Layla, Macdonald, Stella K., Brady, Lauren, Hui, Angela Y., Andrews, Joseph D., Chowdhury, Ashfia, Wall, Erika, Soubry, Élisabeth, Ediae, Grace U., Rojas, Samantha, Assamad, Daniel, Dyment, David, Tarnopolsky, Mark, Sawyer, Sarah L., Chisholm, Caitlin, Lemire, Gabrielle, Amburgey, Kimberly, Lazier, Joanna, Mendoza-Londono, Roberto, Dowling, James J., Balci, Tugce B., Armour, Christine M., Bhola, Priya T., Costain, Gregory, Dupuis, Lucie, Carter, Melissa, Badalato, Lauren, Richer, Julie, Boswell-Patterson, Christie, Kannu, Peter, Cordeiro, Dawn, Warman-Chardon, Jodi, Graham, Gail, Siu, Victoria Mok, Cytrynbaum, Cheryl, Rusnak, Alison, Aul, Ritu B., Yoon, Grace, Gonorazky, Hernan, McNiven, Vanda, Mercimek-Andrews, Saadet, Guerin, Andrea, Deshwar, Ashish R., Marwaha, Ashish, Weksberg, Rosanna, Karp, Natalya, Campbell, Maggie, Al-Qattan, Sarah, Shuen, Andrew Y., Inbar-Feigenberg, Michal, Cohn, Ronald, Szuto, Anna, Inglese, Cara, Poirier, Myriam, Chad, Lauren, Potter, Beth, Boycott, Kym M., Hayeems, Robin, Boycott, Kym, Brudno, Michael, Bernier, Francois, van Karnebeek, Clara, Dyment, David, Kernohan, Kristin, Innes, Micheil, Lamont, Ryan, Parboosingh, Jillian, Marshall, Deborah, Marshall, Christian, Mendoza, Roberto, Dowling, James, Hayeems, Robin, Knoppers, Bartha, Lehman, Anna, Mostafavi, Sara

“…To evaluate the diagnostic utility of publicly funded clinical exome sequencing (ES) for patients with suspected rare genetic diseases. We prospectively…”
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A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndrome by MacDonald, Stella K, Marshall, Aren E, Lemire, Gabrielle, Hartley, Taila, Kernohan, Kristin D, Boycott, Kym M

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SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder by Lemire, Gabrielle, MacDonald, Stella K, Boycott, Kym M

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