Genetic Testing
Concept
Vocabulary Service
Overview
subject area of
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CYP2C19
Genetic Testing Should Not Be Done in All Patients Treated With Clopidogrel Who Are Undergoing Percutaneous Coronary Intervention Academic Article
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A Multicenter Trial of the Effectiveness of ζ-Globin Enzyme-Linked Immunosorbent Assay and Hemoglobin H Inclusion Body Screening for the Detection of α0-Thalassemia Trait Academic Article
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A Population-Based Study of Dystrophin Mutations in Canada Academic Article
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A Reliable Screening Test to Identify Adult Carriers of the (--SEA) alpha0-Thalassemia Deletion Academic Article
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A genotype-directed comparative effectiveness trial of Bucindolol and metoprolol succinate for prevention of symptomatic atrial fibrillation/atrial flutter in patients with heart failure: Rationale and design of the GENETIC-AF trial Academic Article
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A qualitative study of women and partners from Lebanon and Quebec regarding an expanded scope of noninvasive prenatal testing Academic Article
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Accuracy of p53 Codon 72 Polymorphism Status Determined by Multiple Laboratory Methods: A Latent Class Model Analysis Academic Article
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Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel Academic Article
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Algorithms for prediction of the Oncotype DX recurrence score using clinicopathologic data: a review and comparison using an independent dataset Academic Article
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Alpha-thalassaemia and population health in Southeast Asia Academic Article
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An algorithm to discover gene signatures with predictive potential Academic Article
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An evidence-based guideline on the application of molecular testing in the diagnosis, prediction of prognosis, and selection of therapy in non-GIST soft tissue sarcomas Academic Article
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An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster Academic Article
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Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS Academic Article
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Asymptomatic thrombophilia—a family affair Academic Article
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Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis Academic Article
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Attitudes toward direct predictive testing for the Huntington disease gene. Relevance for other adult-onset disorders. The Canadian Collaborative Group on Predictive Testing for Huntington Disease Academic Article
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Atypical Teratoid Rhabdoid Tumors (ATRTs): The British Columbia's Children's Hospital's Experience, 1986-2006 Academic Article
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Autism spectrum disorder: When biochemical and genetic profiles don't match — Is sample size and selection bias the culprit? Academic Article
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Autism spectrum disorder: advances in evidence-based practice Academic Article
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Bacteria Getting into Shape: Genetic Determinants of
E. coli
Morphology Academic Article
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Blood pressure and anthropometrics of 4-y-old children born after preimplantation genetic screening: follow-up of a unique, moderately sized, randomized controlled trial Academic Article
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Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data Academic Article
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CONFRONTING THE “GRAY ZONES” OF TECHNOLOGY ASSESSMENT: EVALUATING GENETIC TESTING SERVICES FOR PUBLIC INSURANCE COVERAGE IN CANADA Academic Article
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Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018 Academic Article
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Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims Academic Article
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Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans Academic Article
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Characterization of DCTN1 genetic variability in neurodegeneration Academic Article
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Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles Academic Article
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Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis Academic Article
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Clinical evaluation of a hemochromatosis next-generation sequencing gene panel Academic Article
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Codon 24 (TAT>TAG) and Codon 32 (ATG>AGG) (Hb Rotterdam): Two Novel α2 Gene Mutations Associated with Mild α-Thalassemia Found in the Same Family After Newborn Screening Academic Article
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Comparative genomic and genetic analysis of glioblastoma-derived brain tumor-initiating cells and their parent tumors Academic Article
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Compound Heterozygosity For Triplicated α-Globin Gene and (- -SEA
) α-Globin Gene Deletion: Implication For Thalassaemia Screening Academic Article
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Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients Academic Article
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Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia Academic Article
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Cost-effectiveness of Genome and Exome Sequencing in Children Diagnosed with Autism Spectrum Disorder Conference Paper
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Cross-cultural perspectives on decision making regarding noninvasive prenatal testing: A comparative study of Lebanon and Quebec Academic Article
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Current Evidence for Genetic Testing in Clopidogrel-Treated Patients Undergoing Coronary Stenting Academic Article
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DNA DIAGNOSTIC LABORATORIES Academic Article
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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) Academic Article
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Delivery of molecular genetic services within a health care system: time analysis of the clinical workload. The Molecular Genetic Study Group. Academic Article
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Derivation and Validation of a Simple Exercise-Based Algorithm for Prediction of Genetic Testing in Relatives of LQTS Probands Academic Article
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Detection of hereditary motor sensory neuropathy type I in childhood. Academic Article
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Development and Pilot Evaluation of Novel Genetic Educational Materials Designed for an Underserved Patient Population Academic Article
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Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan Academic Article
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Diagnosis of Huntington disease: A model for the stages of psychological response based on experience of a predictive testing program Academic Article
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Diagnosis of ‘possible’ mitochondrial disease: an existential crisis Academic Article
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Diagnostic testing for α-globin gene disorders in a heterogeneous North American population Academic Article
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Direct-to-consumer genetic testing: letting the genie out of the bottle? Academic Article
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Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening Academic Article
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Documentation of guideline adherence in antenatal records across maternal weight categories: a chart review Academic Article
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Double heterozygosity for germline mutations in BRCA1 and p53 in a woman with early onset breast cancer Academic Article
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Dual molecular diagnoses in a neurometabolic specialty clinic Academic Article
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Dysbetalipoproteinemia: Differentiating Multifactorial Remnant Cholesterol Disease From Genetic ApoE Deficiency Academic Article
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Early-Onset Developmental and Epileptic Encephalopathies of Infancy: An Overview of the Genetic Basis and Clinical Features Academic Article
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Economic Considerations for Health Insurance Coverage of Emerging Genetic Tests Academic Article
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Economic Evaluations Conducted for Assessment of Genetic Testing Technologies: A Systematic Review Academic Article
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Educational Paper: Decreasing the burden of cardiovascular disease in childhood cancer survivors: An update for the pediatrician Academic Article
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Effects of misclassification on estimates of relative risk in family history studies Academic Article
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Evidence of linkage in subtypes of alcoholism Academic Article
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Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease Academic Article
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Examining the Clinical Use of Hemochromatosis Genetic Testing Academic Article
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Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia Academic Article
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Experience of parental cancer in childhood is a risk factor for psychological distress during genetic cancer susceptibility testing Academic Article
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Falling prices and unfair competition in consumer genomics Academic Article
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Familial ovarian cancer. Academic Article
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Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study Academic Article
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Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment. Academic Article
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Frequency and ethnic distribution of the commonDHCR7 mutation in Smith-Lemli-Opitz syndrome Academic Article
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Gastrointestinal polyposis syndromes Academic Article
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Genetic Analyses of the Internal Transcribed Spacer Sequences Suggest Introgression and Duplication in the Medicinal Mushroom Agaricus subrufescens Academic Article
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Genetic Myopathies Initially Diagnosed and Treated as Inflammatory Myopathy Academic Article
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Genetic Testing in the Evaluation of Unexplained Cardiac Arrest Academic Article
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Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways Academic Article
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Genetic analysis of impulsive personality traits: Examination of a priori candidates and genome-wide variation Academic Article
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Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations Academic Article
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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits Academic Article
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Genetic and Chemical Screening in Human Blood Serum Reveals Unique Antibacterial Targets and Compounds against Klebsiella pneumoniae Academic Article
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Genetic influences on ADHD symptom dimensions: Examination of a priori candidates, gene-based tests, genome-wide variation, and SNP heritability Academic Article
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Genetic interaction between α4 and β2 subunits of high affinity nicotinic receptor: analysis in schizophrenia Academic Article
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Genetic non-discrimination policy in Canada: Assessing windows of opportunity for policy change Academic Article
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Genetic testing for amyotrophic lateral sclerosis in Canada – an assessment of current practices Academic Article
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Genetic testing for atherosclerosis risk: Inevitability or pipe dream? Academic Article
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Genetics Consultation Rates Following a Diagnosis of High-Grade Serous Ovarian Carcinoma in the Canadian Province of Ontario Academic Article
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Genetics in obstetricians? offices: a survey study*1 Academic Article
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Genetics of early-onset coronary artery disease Academic Article
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Genitourinary Cancer Predisposition Syndromes Academic Article
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Genome-Wide Screening of Retroviral Envelope Genes in the Nine-Banded Armadillo (Dasypus novemcinctus, Xenarthra) Reveals an Unfixed Chimeric Endogenous Betaretrovirus Using the ASCT2 Receptor Academic Article
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Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke Academic Article
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Genotype-Positive Status in Patients With Hypertrophic Cardiomyopathy Is Associated With Higher Rates of Heart Failure Events Academic Article
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Going the distance: the influence of practice location on the Ontario Maternal Serum Screening Program. Academic Article
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HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update Academic Article
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How to Use an Article About Genetic Association Academic Article
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Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects Academic Article
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Identification of a novel β0 - thalassaemia mutation in a greek family and subsequent prenatal diagnosis Academic Article
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Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome Academic Article
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Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia Academic Article
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Impact of Prenatal Risk Factors on Congenital Heart Disease in the Current Era Academic Article
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Impact of a Genetic Risk Score on Myocardial Infarction Risk Across Different Ethnic Populations Academic Article
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Implementation challenges for an ethical introduction of noninvasive prenatal testing: a qualitative study of healthcare professionals’ views from Lebanon and Quebec Academic Article
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Implementing Publicly Funded Noninvasive Prenatal Testing for Fetal Aneuploidy in Ontario, Canada: Clinician Experiences With a Disruptive Technology Academic Article
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Importance of genetic testing in unexplained cardiac arrest Academic Article
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Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies Academic Article
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International Consensus on the Use of Genetics in the Management of Hereditary Angioedema Academic Article
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Introduction of non-invasive prenatal testing as a first-tier aneuploidy screening test: A survey among Dutch midwives about their role as counsellors Academic Article
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Investigations for fetal and neonatal alloimmune thrombocytopenia: communication from the SSC of the ISTH Academic Article
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Is Isolated Palatal Anomaly an Indication to Screen for 22q11 Region Deletion? Academic Article
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Local molecular analysis of indeterminate thyroid nodules Academic Article
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MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis Academic Article
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Magnetic Resonance Imaging Improves Breast Screening Sensitivity in BRCA Mutation Carriers Age ≥ 50 Years: Evidence From an Individual Patient Data Meta-Analysis Academic Article
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Manifestations of Von Hippel Lindau syndrome: a retrospective national review Academic Article
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Mapping autism risk loci using genetic linkage and chromosomal rearrangements Academic Article
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Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes. Academic Article
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Molecular biology approaches to biological monitoring of genotoxic substances Academic Article
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Mothers and daughters from breast cancer families: a qualitative study of their perceptions of risks and benefits associated with minor's participation in genetic susceptibility research. Academic Article
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Multi-Ethnic Genetic Association Study of Carotid Intima-Media Thickness Using a Targeted Cardiovascular SNP Microarray Academic Article
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Myocardial Diseases: Current Views on Etiopathogenesis, Diagnostic Modalities, and Therapeutic Options Academic Article
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Neuronal Correlates of Brain-derived Neurotrophic Factor Val66Met Polymorphism and Morphometric Abnormalities in Bipolar Disorder Academic Article
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New treatment paradigms for ADPKD: moving towards precision medicine Academic Article
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Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia Academic Article
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One of These Things Is Not Like the Others: The Idea of Precedence in Health Technology Assessment and Coverage Decisions Academic Article
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Ontario Maternal Serum Screening Program: practices, knowledge and opinions of health care providers. Academic Article
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Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year Academic Article
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PedSplit: pedigree management for stratified analysis Academic Article
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Pediatric patients with pheochromocytoma and paraganglioma should have routine preoperative genetic testing for common susceptibility genes in addition to imaging to detect extra-adrenal and metastatic tumors Conference Paper
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Perceptions About Genetic Testing for the Susceptibility to Alcohol Dependence and Other Multifactorial Diseases Academic Article
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Performance characteristics of a brief Family History Questionnaire to screen for Lynch syndrome in women with newly diagnosed endometrial cancer Academic Article
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Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing Academic Article
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Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes Academic Article
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Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C Academic Article
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Personalized medicine - the promised land: are we there yet? Academic Article
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Platelet glycoprotein Ibα Kozak polymorphism is associated with an increased risk of ischemic stroke Academic Article
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Population-Based Study to Determine the Health System Costs of Using the 21-Gene Assay Academic Article
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Positive perception of pharmacogenetic testing for psychotropic medications Academic Article
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Postal survey of physicians and laboratories: Practices and perceptions of molecular oncology testing Academic Article
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Practice guidelines for BRCA1/2 tumour testing in ovarian cancer Academic Article
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Predictive genetic testing for coronary artery disease Academic Article
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Predictive testing for Huntington disease in Canada: Adverse effects and unexpected results in those receiving a decreased risk Academic Article
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Predictive testing for Huntington disease in Canada: The experience of those receiving an increased risk Academic Article
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Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals Academic Article
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Preimplantation Genetic Screening in Older Mothers Academic Article
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Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies Academic Article
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Prenatal screening for congenital anomalies: exploring midwives’ perceptions of counseling clients with religious backgrounds Academic Article
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Presence of Alanine-to-Valine Substitutions in Myofibrillogenesis Regulator 1 in Paroxysmal Nonkinesigenic Dyskinesia Academic Article
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Preventing tomorrow's sudden cardiac death today Academic Article
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Prognostic and predictive value of the 21-gene recurrence score assay in postmenopausal women with node-positive, oestrogen-receptor-positive breast cancer on chemotherapy: a retrospective analysis of a randomised trial Academic Article
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Prognostic factors for delivery in patients undergoing repeated preimplantation genetic aneuploidy screening Academic Article
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Proposed Regulatory Framework for Direct-to-Consumer Genetic Testing: Diagnostics vs Genetic Screening Academic Article
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Proteins Required for Centrosome Clustering in Cancer Cells Academic Article
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Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease Academic Article
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RNA Interference in
Caenorhabditis elegans Academic Article
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Rapid screening of microsatellite markers for polymorphisms using SYBR® Green I and a DNA sequencer Academic Article
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Recognizing BRCA gene mutation risk subsequent to breast cancer diagnosis in southwestern Ontario. Academic Article
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Recommendations for the Use of Genetic Testing in the Clinical Evaluation of Inherited Cardiac Arrhythmias Associated with Sudden Cardiac Death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society Joint Position Paper Academic Article
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Reply to Just the facts, please Academic Article
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Risk evaluation using gene expression screening to monitor for acute cellular rejection in heart transplant recipients Academic Article
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Risk factors for ovarian cancer and early-onset breast cancer in Mongolia. Academic Article
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Role of phenotypic and genetic testing in managing clopidogrel therapy Academic Article
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Role of thrombophilic risk factors in children with non-stroke cerebral palsy Academic Article
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Ruling in and ruling out: Implications of molecular genetic diagnoses for disease classification Academic Article
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SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations Academic Article
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Screening and counseling for thalassemia Academic Article
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Screening of hypoxia-inducible genes in sporadic ALS Academic Article
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Selecting a BRCA risk assessment model for use in a familial cancer clinic Academic Article
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Sequence‐Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in
ADA2 Academic Article
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Should adult patients be routinely tested for heritable thrombophilia after an episode of venous thromboembolism? Academic Article
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Single-Tube Multiplex-PCR Screen for Anti-3.7 and Anti-4.2 α-Globin Gene Triplications Academic Article
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Single-visit screening and treatment of first-degree relatives Academic Article
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Spectrum of β-Thalassemia Mutations in Egypt Academic Article
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Systematic Genetic Screens Reveal the Dynamic Global Functional Organization of the Bacterial Translation Machinery Academic Article
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Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases Academic Article
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Test-enhanced learning of natural concepts: Effects on recognition memory, classification, and metacognition. Academic Article
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The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment Academic Article
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The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations Academic Article
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The Duty to Recontact: Benefit and Harm Academic Article
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The Psychological Consequences of Predictive Testing for Huntington’s Disease Academic Article
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The complex genetics of amyotrophic lateral sclerosis Academic Article
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The potential to predict the course of childhood asthma Academic Article
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The recognition, assessment and management of dementing disorders: conclusions from the Canadian Consensus Conference on Dementia. Academic Article
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The role of clinical response to treatment in determining pathogenicity of genomic variants Academic Article
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The thalassemias and health care in Canada: a place for genetics in medicine. Academic Article
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Transformation of the Anticancer Drug Doxorubicin in the Human Gut Microbiome Academic Article
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Translation of Knowledge to Practice—Improving Awareness in NSCLC Molecular Testing Academic Article
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Universal Newborn Screening for Hb H Disease in California Academic Article
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Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia Academic Article
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What next for preimplantation genetic screening? A polar body approach! Academic Article
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When research seems like clinical care: a qualitative study of the communication of individual cancer genetic research results Academic Article
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Women’s Experiences of Publicly Funded Non-Invasive Prenatal Testing in Ontario, Canada Academic Article
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Women’s perspectives on the ethical implications of non-invasive prenatal testing: a qualitative analysis to inform health policy decisions Academic Article