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Genetics

  • Open Access
    Screening and testing practices for Lynch syndrome in Nova Scotians with endometrial cancer: a descriptive study
    Marianne Levesque, Richard Wood, Michael D. Carter, Jo-Ann Brock and Katharina Kieser
    October 31, 2023 11 (5) E1012-E1019; DOI: https://doi.org/10.9778/cmajo.20220136
  • Open Access
    Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study
    Amanda Guerin, Iulia Iatan, Isabelle Ruel, Linda Fri Ngufor and Jacques Genest
    August 22, 2023 11 (4) E754-E764; DOI: https://doi.org/10.9778/cmajo.20220108
  • Open Access
    Secondary causes of elevated hemoglobin in patients undergoing molecular testing for suspected polycythemia vera in southwestern Ontario: a chart review
    Benjamin Chin-Yee, Maxim Matyashin, Ian Cheong, Pratibha Bhai, Alejandro Lazo-Langner, Ala Almanaseer, Eri Kawata, Michael A. Levy, Alan Stuart, Hanxin Lin, Ian Chin-Yee, Bekim Sadikovic and Cyrus Hsia
    November 08, 2022 10 (4) E988-E992; DOI: https://doi.org/10.9778/cmajo.20210322
  • Open Access
    Determinants of guideline-concordant breast cancer screening by family physicians for women aged 40–49 years: a qualitative analysis
    Michelle B. Nadler, Ann Marie Corrado, Laura Desveaux, Sarah E. Neil-Sztramko, Brooke E. Wilson, Alexandra Desnoyers, Eitan Amir and Noah Ivers
    October 18, 2022 10 (4) E900-E910; DOI: https://doi.org/10.9778/cmajo.20210266
  • Open Access
    Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario
    Robin Z. Hayeems, Christian R. Marshall, Meredith K. Gillespie, Anna Szuto, Caitlin Chisholm, Dimitri J. Stavropoulos, Viji Venkataramanan, Kate Tsiplova, Sarah Sawyer, E. Magda Price, Lynette Lau, Reem Khan, Whiwon Lee, Lijia Huang, Olga Jarinova, Wendy J. Ungar, Roberto Mendoza-Londono, Martin J. Somerville and Kym M. Boycott
    May 24, 2022 10 (2) E460-E465; DOI: https://doi.org/10.9778/cmajo.20210272
  • Open Access
    Building the What Comes Next Cohort for BRCA1 and BRCA2 testing: a descriptive analysis
    Fahima Dossa, Kelly Metcalfe, Rinku Sutradhar, Tari Little, Andrea Eisen, Kathy Chun, Wendy S. Meschino, Lea Velsher, Jordan Lerner Ellis and Nancy N. Baxter
    September 21, 2021 9 (3) E874-E885; DOI: https://doi.org/10.9778/cmajo.20200228
  • Open Access
    Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening
    Christina Blagojevic, Tracy Heung, Mylene Theriault, Aoy Tomita-Mitchell, Pranesh Chakraborty, Kristin Kernohan, Dennis E. Bulman and Anne S. Bassett
    August 17, 2021 9 (3) E802-E809; DOI: https://doi.org/10.9778/cmajo.20200294
  • You have access
    Genetic testing in families with hereditary colorectal cancer in British Columbia and Yukon: a retrospective cross-sectional analysis
    Vivienne K. Beard, Angela C. Bedard, Jennifer Nuk, Petra W.C. Lee, Quan Hong, James E.J. Bedard, Sophie Sun and Kasmintan A. Schrader
    October 19, 2020 8 (4) E637-E642; DOI: https://doi.org/10.9778/cmajo.20190167
  • You have access
    Benefits, challenges and ethical principles associated with implementing noninvasive prenatal testing: a Delphi study
    Charles Dupras, Stanislav Birko, Aliya Affdal, Hazar Haidar, Marie-Eve Lemoine and Vardit Ravitsky
    October 31, 2018 6 (4) E513-E519; DOI: https://doi.org/10.9778/cmajo.20180083
  • You have access
    Trends in the use of prenatal testing services for fetal aneuploidy in Ontario: a descriptive study
    Tianhua Huang, Shelley Dougan, Mark Walker, Christine M. Armour and Nan Okun
    October 05, 2018 6 (4) E436-E444; DOI: https://doi.org/10.9778/cmajo.20180046

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