Marsha Speevak

Marsha Speevak

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Marsha Speevak

Marsha Speevak

Publications by authors named "Marsha Speevak"

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20Publications

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Null: A novel α-antitrypsin allele with in cis variants Glu366Lys and Ile100Asn.

Clin Biochem 2020 Feb 19. Epub 2020 Feb 19.

Department of Pathology and Laboratory Medicine, St. Paul's Hospital, BC, Canada; Department of Pathology and Laboratory Medicine, University of British Columbia, BC, Canada.

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http://dx.doi.org/10.1016/j.clinbiochem.2020.02.013DOI Listing
February 2020

CCMG practice guideline: laboratory guidelines for next-generation sequencing.

J Med Genet 2019 12 12;56(12):792-800. Epub 2019 Jul 12.

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada

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http://dx.doi.org/10.1136/jmedgenet-2019-106152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929709PMC
December 2019

Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.

Am J Med Genet A 2015 Sep 6;167A(9):2098-102. Epub 2015 May 6.

Division of Clinical and Metabolics Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.37134
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http://dx.doi.org/10.1002/ajmg.a.37134DOI Listing
September 2015

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

J Med Genet 2015 Sep 3;52(9):585-6. Epub 2015 Jun 3.

Cytogenetics Laboratory, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2015-103223DOI Listing
September 2015

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

BMJ Case Rep 2014 Nov 12;2014. Epub 2014 Nov 12.

Brain and Mind Institute, University of Western Ontario, London, Ontario, Canada Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1136/bcr-2014-207501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244445PMC
November 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

Charcot-Marie-Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication.

Eur J Med Genet 2013 Oct 25;56(10):566-9. Epub 2013 Jun 25.

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada; Division of Genetics, Trillium Health Partners, Credit Valley Hospital, 2200 Eglinton Ave., West, Mississauga, Ontario, Canada L5M 2N1. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.06.004DOI Listing
October 2013

Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair.

Am J Med Genet B Neuropsychiatr Genet 2011 Jun 7;156B(4):484-9. Epub 2011 Apr 7.

Department of Genetics and Laboratory Medicine, Credit Valley Hospital, Mississauga, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.b.31186DOI Listing
June 2011

The detection of chromosome anomalies by QF-PCR and residual risks as compared to G-banded analysis.

Prenat Diagn 2011 May 24;31(5):454-8. Epub 2011 Feb 24.

Credit Valley Hospital, Mississauga, Ontario, Canada.

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http://doi.wiley.com/10.1002/pd.2716
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http://dx.doi.org/10.1002/pd.2716DOI Listing
May 2011

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

J Hum Genet 2010 Jan 13;55(1):37-41. Epub 2009 Nov 13.

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/jhg.2009.119DOI Listing
January 2010

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

Eur J Hum Genet 2003 Dec;11(12):951-4

Department of Biochemistry, Microbiology and Immunology, Faculty of Medicine, University of Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1038/sj.ejhg.5201063DOI Listing
December 2003

Molecular characterization of an inherited ring (19) demonstrating ring opening.

Am J Med Genet A 2003 Aug;121A(2):141-5

Division of Genetics, Department of Laboratory Medicine, The Credit Valley Hospital, Mississauga, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.20184DOI Listing
August 2003

Whole-cell and microcell fusion for the identification of natural regulators of telomerase.

Methods Mol Biol 2002 ;191:173-95

Shire BioChem Inc., Laval, Quebec, Canada.

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http://dx.doi.org/10.1385/1-59259-189-2:173DOI Listing
October 2002