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16 results for Speevak,+Marsha

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ArticlesPeer ReviewedFull Text
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)
Author / Creator:Lebo, Matthew S ; Zakoor, Kathleen-Rose ; Chun, Kathy ; Speevak, Marsha D ; Waye, John S ; McCready, Elizabeth ; Parboosingh, Jillian S ; Lamont, Ryan E ; Feilotter, Harriet ; Bosdet, Ian ; Tucker, Tracy ; Young, Sean ; Karsan, Aly ; Charames, George S ; Agatep, Ronald ; Spriggs, Elizabeth L ; Chisholm, Caitlin ; Vasli, Nasim ; Daoud, Hussein ; Jarinova, Olga ; Tomaszewski, Robert ; Hume, Stacey ; Taylor, Sherryl ; Akbari, Mohammad R ; Lerner-Ellis, Jordan
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2018-03, Vol.20 (3), p.294-302
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Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia
Author / Creator:Lowther, Chelsea ; Merico, Daniele ; Costain, Gregory ; Waserman, Jack ; Boyd, Kerry ; Noor, Abdul ; Speevak, Marsha ; Stavropoulos, Dimitri J ; Wei, John ; Lionel, Anath C ; Marshall, Christian R ; Scherer, Stephen W ; Bassett, Anne S
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2017-11, Vol.9 (1), p.105-105, Article 105
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Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus
Author / Creator:Buchanan, Janet A ; Chitayat, David ; Kolomietz, Elena ; Lee, Hin C ; Scherer, Stephen W ; Speevak, Marsha D ; Sroka, Hana ; Stavropoulos, Dimitri J
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-09, Vol.52 (9), p.585-586
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A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome
Author / Creator:Perera, Sheron ; Ramyar, Lily ; Mitri, Angie ; Pollett, Aaron ; Gallinger, Steven ; Speevak, Marsha D ; Aronson, Melyssa ; Bapat, Bharati
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2010-01, Vol.55 (1), p.37-41
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CCMG practice guideline: laboratory guidelines for next-generation sequencing
Author / Creator:Hume, Stacey ; Nelson, Tanya N ; Speevak, Marsha ; McCready, Elizabeth ; Agatep, Ron ; Feilotter, Harriet ; Parboosingh, Jillian ; Stavropoulos, Dimitri J ; Taylor, Sherryl ; Stockley, Tracy L
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2019-12, Vol.56 (12), p.792-800
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Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository
Author / Creator:Mighton, Chloe ; Smith, Amanda C ; Mayers, Justin ; Tomaszewski, Robert ; Taylor, Sherryl ; Hume, Stacey ; Agatep, Ron ; Spriggs, Elizabeth ; Feilotter, Harriet E ; Semenuk, Laura ; Wong, Henry ; Silver, Talia ; Charames, George S ; Di Gioacchino, Vanessa ; Watkins, Nicholas ; Foulkes, William D ; Clavier, Marcos ; Hamel, Nancy ; Chong, George ; Lamont, Ryan E ; Parboosingh, Jillian ; Young, Sean S ; Akbari, Mohammad Reza ; Speevak, Marsha D ; Lebo, Matthew S ; Agatep, Ron ; Ainsworth, Peter ; Akbari, Mohammad R. ; Aronson, Melyssa ; Basran, Raveen ; Blumenthal, Andrea ; Bombard, Yvonne ; Buckley, Kathleen ; Campbell, Jodi ; Care, Melanie ; Carson, Nancy ; Chang, Martin C. ; Carter, Ronald ; Charames, George ; Chitayat, David ; Chong, George ; Chouinard, Edmond ; Craddock, Kenneth J. ; Docking, Rod ; Eisen, Andrea ; Faghfoury, Hanna ; Farrell, Sandra ; Feilotter, Harriet ; Fernandez, Bridget ; Fiume, Marc ; Friedman, Jan ; Foulkes, William ; Goodhand, Peter ; Hegele, Robert ; Holter, Spring ; Horsburgh, Sheri ; Hughes, Lauren ; Hume, Stacey ; Jarinova, Olga ; Junker, Anne ; Karsan, Aly ; Khalouei, Sam ; Kim, Raymond H. ; Knoppers, Bartha ; Lamont, Ryan ; Lebo, Matthew ; Lerner-Ellis, Jordan ; Maire, Georges ; Mitchell, Grant ; Morel, Chantal ; Nelson, Tanya ; Noor, Abdul ; O’Rielly, Darren ; Ouellette, Francis ; Parboosingh, Jillian ; Rehm, Heidi ; Riddell, Christie ; Riviere, Jean-Baptiste ; Rosenblatt, David S. ; Rouleau, Guy ; Ruchon, Andrea ; Sabatini, Peter ; Sadikovic, Bekim ; Semotiuk, Kara ; Scherer, Stephen W. ; Shuman, Cheryl ; Silver, Josh ; Solomon-Izsak, Lesley ; Speevak, Marsha ; Taylor, Sherryl ; Terespolsky, Deborah ; Tomaszewski, Robert ; Wong, Nora ; Wang, Marina ; Watkins, Nicholas ; Waye, John S. ; White, Shana ; Woods, Michael O. ; Young, Sean ; Zakoor, Kathleen-Rose
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2022-06, Vol.59 (6), p.571-578
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A large data resource of genomic copy number variation across neurodevelopmental disorders
Author / Creator:Zarrei, Mehdi ; Burton, Christie L. ; Engchuan, Worrawat ; Young, Edwin J. ; Higginbotham, Edward J. ; MacDonald, Jeffrey R. ; Trost, Brett ; Chan, Ada J. S. ; Walker, Susan ; Lamoureux, Sylvia ; Heung, Tracy ; Mojarad, Bahareh A. ; Kellam, Barbara ; Paton, Tara ; Faheem, Muhammad ; Miron, Karin ; Lu, Chao ; Wang, Ting ; Samler, Kozue ; Wang, Xiaolin ; Costain, Gregory ; Hoang, Ny ; Pellecchia, Giovanna ; Wei, John ; Patel, Rohan V. ; Thiruvahindrapuram, Bhooma ; Roifman, Maian ; Merico, Daniele ; Goodale, Tara ; Drmic, Irene ; Speevak, Marsha ; Howe, Jennifer L. ; Yuen, Ryan K. C. ; Buchanan, Janet A. ; Vorstman, Jacob A. S. ; Marshall, Christian R. ; Wintle, Richard F. ; Rosenberg, David R. ; Hanna, Gregory L. ; Woodbury-Smith, Marc ; Cytrynbaum, Cheryl ; Zwaigenbaum, Lonnie ; Elsabbagh, Mayada ; Flanagan, Janine ; Fernandez, Bridget A. ; Carter, Melissa T. ; Szatmari, Peter ; Roberts, Wendy ; Lerch, Jason ; Liu, Xudong ; Nicolson, Rob ; Georgiades, Stelios ; Weksberg, Rosanna ; Arnold, Paul D. ; Bassett, Anne S. ; Crosbie, Jennifer ; Schachar, Russell ; Stavropoulos, Dimitri J. ; Anagnostou, Evdokia ; Scherer, Stephen W.
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2019-10, Vol.4 (1), p.26-13, Article 26
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ArticlesFull Text
Prevalence of NTRK Fusions in Canadian Solid Tumour Cancer Patients
Author / Creator:Silvertown, Joshua D. ; Lisle, Connie ; Semenuk, Laura ; Knapp, Colleen ; Jaynes, Jillann ; Berg, Doreen ; Kaul, Nabodita ; Lachapelle, Josianne ; Richardson, Leslie ; Speevak, Marsha ; Sarras, Haya ; Berman, David M. ; Carter, Ronald ; Feilotter, Harriet ; Feltis, Timothy
Publisher:Cham: Springer International Publishing
Journal title:Molecular diagnosis & therapy, 2023-01, Vol.27 (1), p.87-103
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ArticlesPeer ReviewedFull Text
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Author / Creator: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.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2017-01, Vol.19 (1), p.53-61
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Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay
Author / Creator:Uddin, Mohammed ; Pellecchia, Giovanna ; Thiruvahindrapuram, Bhooma ; D’Abate, Lia ; Merico, Daniele ; Chan, Ada ; Zarrei, Mehdi ; Tammimies, Kristiina ; Walker, Susan ; Gazzellone, Matthew J. ; Nalpathamkalam, Thomas ; Yuen, Ryan K. C. ; Devriendt, Koenraad ; Mathonnet, Géraldine ; Lemyre, Emmanuelle ; Nizard, Sonia ; Shago, Mary ; Joseph-George, Ann M. ; Noor, Abdul ; Carter, Melissa T. ; Yoon, Grace ; Kannu, Peter ; Tihy, Frédérique ; Thorland, Erik C. ; Marshall, Christian R. ; Buchanan, Janet A. ; Speevak, Marsha ; Stavropoulos, Dimitri J. ; Scherer, Stephen W.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-07, Vol.6 (1), p.28663-28663, Article 28663
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A fourth case of Feingold syndrome type 2: psychiatric presentation and management
Author / Creator:Ganjavi, Hooman ; Siu, Victoria Mok ; Speevak, Marsha ; MacDonald, Penny Anne
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2014-11, Vol.2014, p.bcr2014207501
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MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations
Author / Creator:Lowther, Chelsea ; Speevak, Marsha ; Armour, Christine ; Goh, Elaine ; Graham, Gail ; Li, Chumei ; Zeesman, Susan ; Nowaczyk, Malgorzata JM ; Schultz, Lee-Anne ; Morra, Antonella ; Nicolson, Robert ; Rajguru, Manjulata ; Goobie, Sharan ; Tarnopolsky, Mark A ; Prasad, Chitra ; Dick, Paul T ; Hussain, Asmaa S ; Gazzellone, Matthew ; Lionel, Anath C ; Marshall, Christian R ; Scherer, Stephen W ; Stavropoulos, Dimitri J ; McCready, Elizabeth ; Bassett, Anne S
Journal title:Journal of medical genetics, 2015-11, Vol.52 (Suppl 2), p.A9-A9
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Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes
Author / Creator:Fan, Yao-Shan ; Zhang, Yang ; Speevak, Marsha ; Farrell, Sandra ; Jung, Jack H. ; Siu, Victoria M.
Publisher:United States: Elsevier Inc
Journal title:Genetics in medicine, 2001-11, Vol.3 (6), p.416-421
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Alternatively spliced, truncated human BRCA2 isoforms contain a novel coding exon
Author / Creator:Speevak, Marsha D ; Young, Sean S ; Feilotter, Harriet ; Ainsworth, Peter
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2003-12, Vol.11 (12), p.951-954
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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Author / Creator:Thompson, Bryony A ; Spurdle, Amanda B ; Plazzer, John-Paul ; Greenblatt, Marc S ; Akagi, Kiwamu ; Al-Mulla, Fahd ; Bapat, Bharati ; Bernstein, Inge ; Capellá, Gabriel ; den Dunnen, Johan T ; du Sart, Desiree ; Fabre, Aurelie ; Farrell, Michael P ; Farrington, Susan M ; Frayling, Ian M ; Frebourg, Thierry ; Goldgar, David E ; Heinen, Christopher D ; Holinski-Feder, Elke ; Kohonen-Corish, Maija ; Robinson, Kristina Lagerstedt ; Leung, Suet Yi ; Martins, Alexandra ; Moller, Pal ; Morak, Monika ; Nystrom, Minna ; Peltomaki, Paivi ; Pineda, Marta ; Qi, Ming ; Ramesar, Rajkumar ; Rasmussen, Lene Juel ; Royer-Pokora, Brigitte ; Scott, Rodney J ; Sijmons, Rolf ; Tavtigian, Sean V ; Tops, Carli M ; Weber, Thomas ; Wijnen, Juul ; Woods, Michael O ; Macrae, Finlay ; Genuardi, Maurizio
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2014-02, Vol.46 (2), p.107-115
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Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap
Author / Creator:McCuaig, Jeanna M ; Stockley, Tracy L ; Shaw, Patricia ; Fung-Kee-Fung, Michael ; Altman, Alon D ; Bentley, James ; Bernardini, Marcus Q ; Cormier, Beatrice ; Hirte, Hal ; Kieser, Katharina ; MacMillan, Andree ; Meschino, Wendy S ; Panabaker, Karen ; Perrier, Renee ; Provencher, Diane ; Schrader, Kasmintan A ; Serfas, Kimberly ; Tomiak, Eva ; Wong, Nora ; Young, Sean S ; Gotlieb, Walter Henri ; Hoskins, Paul ; Kim, Raymond H
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-09, Vol.55 (9), p.571-577
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Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

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Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

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Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus

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A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome

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CCMG practice guideline: laboratory guidelines for next-generation sequencing

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Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository

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A large data resource of genomic copy number variation across neurodevelopmental disorders

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Prevalence of NTRK Fusions in Canadian Solid Tumour Cancer Patients

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

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Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

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A fourth case of Feingold syndrome type 2: psychiatric presentation and management

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MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations

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Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes

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Alternatively spliced, truncated human BRCA2 isoforms contain a novel coding exon

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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

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Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

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