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ALU transposition induces familial hypertrophic cardiomyopathy.
Mol Genet Genomic Med. 2020 Jan;8(1):e951. doi: 10.1002/mgg3.951. Epub 2019 Sep 30.
Mol Genet Genomic Med. 2020.
PMID: 31568709
Free PMC article.
Leveraging the power of new molecular technologies in the clinical setting requires unprecedented awareness of limitations and drawbacks: experience of one diagnostic laboratory.
Nfonsam L, Ordorica S, Ghani M, Potter R, Schaffer A, Daoud H, Vasli N, Chisholm C, Sinclair-Bourque E, McGowan-Jordan J, Smith AC, Jarinova O, Bronicki L.
Nfonsam L, et al. Among authors: sinclair bourque e.
J Med Genet. 2019 Jun;56(6):408-412. doi: 10.1136/jmedgenet-2018-105443. Epub 2018 Sep 21.
J Med Genet. 2019.
PMID: 30242101
Item in Clipboard
Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories.
Ghani M, Nfonsam L, Pranckeviciene E, Daoud H, Potter R, Chisholm C, Harper PE, Schaffer A, Little L, Sinclair-Bourque E, McGowan-Jordan J, Smith A, Bronicki L, Jarinova O.
Ghani M, et al. Among authors: sinclair bourque e.
J Mol Diagn. 2019 Jul;21(4):602-611. doi: 10.1016/j.jmoldx.2019.02.009. Epub 2019 Apr 25.
J Mol Diagn. 2019.
PMID: 31028938
Free article.
Item in Clipboard
Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays.
Pranckeviciene E, Racacho L, Ghani M, Nfonsam L, Potter R, Sinclair-Bourque E, Mettler G, Smith A, Bronicki L, Huang L, Jarinova O.
Pranckeviciene E, et al. Among authors: sinclair bourque e.
Hum Genet. 2021 Feb;140(2):289-297. doi: 10.1007/s00439-020-02201-y. Epub 2020 Jul 5.
Hum Genet. 2021.
PMID: 32627054
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Genetic Diagnostic Testing for Inherited Cardiomyopathies: Considerations for Offering Multi-Gene Tests in a Health Care Setting.
Daoud H, Ghani M, Nfonsam L, Potter R, Ordorica S, Haslett V, Santos N, Derksen H, Lahey D, McGill M, Trudel V, Antoniuk B, Vasli N, Chisholm C, Mettler G, Sinclair-Bourque E, McGowan-Jordan J, Smith A, Roberts R, Jarinova O.
Daoud H, et al. Among authors: sinclair bourque e.
J Mol Diagn. 2019 May;21(3):437-448. doi: 10.1016/j.jmoldx.2019.01.004. Epub 2019 Feb 4.
J Mol Diagn. 2019.
PMID: 30731207
Free article.
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HLA-DR(negative), CD34(negative) hypergranular acute myeloid leukemia with trisomy 6 and del(5)(q22q33): case report and review of the literature.
Argiropoulos B, Clifford B, Crocker S, Sinclair-Bourque E, McCready E, McGowan-Jordan J, Johnston DL, Padmore R.
Argiropoulos B, et al. Among authors: sinclair bourque e.
J Pediatr Hematol Oncol. 2011 Oct;33(7):e289-95. doi: 10.1097/MPH.0b013e31821503c8.
J Pediatr Hematol Oncol. 2011.
PMID: 21768886
Review.
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Practice patterns of prenatal and perinatal testing in Canadian cytogenetics laboratories.
Ashfield T, McCready E, Shago M, Wang H, Sinclair-Bourque E, Cappa E, Piche Marolt A, Chun K.
Ashfield T, et al. Among authors: sinclair bourque e.
Prenat Diagn. 2021 Jun;41(7):843-854. doi: 10.1002/pd.5951. Epub 2021 Apr 25.
Prenat Diagn. 2021.
PMID: 33882154
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Trisomy 9p and Prader-Willi syndromes in an infant resulting from a de-novo unbalanced t(9;15) translocation.
Carter MT, Jacob FD, Sinclair-Bourque E, Ray R, Allanson JE.
Carter MT, et al. Among authors: sinclair bourque e.
Clin Dysmorphol. 2009 Apr;18(2):103-106. doi: 10.1097/MCD.0b013e328325ee66.
Clin Dysmorphol. 2009.
PMID: 19282755
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