Genetic Testing Concept

subject area of

• CYP2C19 Genetic Testing Should Not Be Done in All Patients Treated With Clopidogrel Who Are Undergoing Percutaneous Coronary Intervention  Journal Articles
• 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  Journal Articles
• A Population-Based Study of Dystrophin Mutations in Canada  Journal Articles
• A Reliable Screening Test to Identify Adult Carriers of the (--SEA) alpha0-Thalassemia Deletion  Journal Articles
• 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  Journal Articles
• A lentiviral vector‐based insertional mutagenesis screen identifies mechanisms of resistance to MAPK inhibitors in melanoma  Journal Articles
• A qualitative study of women and partners from Lebanon and Quebec regarding an expanded scope of noninvasive prenatal testing  Journal Articles
• Accuracy of p53 Codon 72 Polymorphism Status Determined by Multiple Laboratory Methods: A Latent Class Model Analysis  Journal Articles
• Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel  Journal Articles
• Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers  Journal Articles
• Algorithms for prediction of the Oncotype DX recurrence score using clinicopathologic data: a review and comparison using an independent dataset  Journal Articles
• Alpha-thalassaemia and population health in Southeast Asia  Journal Articles
• An algorithm to discover gene signatures with predictive potential  Journal Articles
• 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  Journal Articles
• An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster  Journal Articles
• Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS  Journal Articles
• Asymptomatic thrombophilia—a family affair  Journal Articles
• Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis  Journal Articles
• Atypical Teratoid Rhabdoid Tumors (ATRTs): The British Columbia's Children's Hospital's Experience, 1986–2006  Journal Articles
• Autism spectrum disorder: When biochemical and genetic profiles don't match — Is sample size and selection bias the culprit?  Journal Articles
• Autism spectrum disorder: advances in evidence-based practice  Journal Articles
• Bacteria Getting into Shape: Genetic Determinants of E. coli Morphology  Journal Articles
• Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data  Journal Articles
• CONFRONTING THE “GRAY ZONES” OF TECHNOLOGY ASSESSMENT: EVALUATING GENETIC TESTING SERVICES FOR PUBLIC INSURANCE COVERAGE IN CANADA  Journal Articles
• Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018  Journal Articles
• Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims  Journal Articles
• Carrier Screening for Genetic Disorders in Individuals of Ashkenazi Jewish Descent  Journal Articles
• Carrier frequency of the RSH/Smith‐Lemli‐Opitz IVS8‐1G>C mutation in African Americans  Journal Articles
• Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles  Journal Articles
• Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis  Journal Articles
• Clinical evaluation of a hemochromatosis next‐generation sequencing gene panel  Journal Articles
• 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  Journal Articles
• Comparative genomic and genetic analysis of glioblastoma-derived brain tumor-initiating cells and their parent tumors  Journal Articles
• Compound Heterozygosity For Triplicated α‐Globin Gene and (– –^SEA) α‐Globin Gene Deletion: Implication For Thalassaemia Screening  Journal Articles
• Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients  Journal Articles
• Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia  Journal Articles
• Cost-effectiveness of Genome and Exome Sequencing in Children Diagnosed with Autism Spectrum Disorder  Conferences
• Cross-cultural perspectives on decision making regarding noninvasive prenatal testing: A comparative study of Lebanon and Quebec  Journal Articles
• Current Evidence for Genetic Testing in Clopidogrel-Treated Patients Undergoing Coronary Stenting  Journal Articles
• DNA DIAGNOSTIC LABORATORIES  Journal Articles
• Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)  Journal Articles
• Delivery of molecular genetic services within a health care system: time analysis of the clinical workload. The Molecular Genetic Study Group.  Journal Articles
• Derivation and Validation of a Simple Exercise-Based Algorithm for Prediction of Genetic Testing in Relatives of LQTS Probands  Journal Articles
• Detection of hereditary motor sensory neuropathy type I in childhood.  Journal Articles
• Development and Pilot Evaluation of Novel Genetic Educational Materials Designed for an Underserved Patient Population  Journal Articles
• Diagnosis and high incidence of hyperornithinemia‐hyperammonemia‐homocitrullinemia (HHH) syndrome in northern Saskatchewan  Journal Articles
• Diagnosis of ‘possible’ mitochondrial disease: an existential crisis  Journal Articles
• Diagnostic testing for α‐globin gene disorders in a heterogeneous North American population  Journal Articles
• Direct-to-consumer genetic testing: letting the genie out of the bottle?  Journal Articles
• Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening  Journal Articles
• Documentation of guideline adherence in antenatal records across maternal weight categories: a chart review  Journal Articles
• Double heterozygosity for germline mutations in BRCA1 and p53 in a woman with early onset breast cancer  Journal Articles
• Dual molecular diagnoses in a neurometabolic specialty clinic  Journal Articles
• Dysbetalipoproteinemia: Differentiating Multifactorial Remnant Cholesterol Disease From Genetic ApoE Deficiency  Journal Articles
• Early-Onset Developmental and Epileptic Encephalopathies of Infancy: An Overview of the Genetic Basis and Clinical Features  Journal Articles
• Economic Considerations for Health Insurance Coverage of Emerging Genetic Tests  Journal Articles
• Economic Evaluations Conducted for Assessment of Genetic Testing Technologies: A Systematic Review  Journal Articles
• Educational Paper: Decreasing the burden of cardiovascular disease in childhood cancer survivors: An update for the pediatrician  Journal Articles
• Effects of misclassification on estimates of relative risk in family history studies  Journal Articles
• Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study  Journal Articles
• Evidence of linkage in subtypes of alcoholism  Journal Articles
• Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap  Journal Articles
• Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease  Journal Articles
• Examining the Clinical Use of Hemochromatosis Genetic Testing  Journal Articles
• Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia  Journal Articles
• Experience of parental cancer in childhood is a risk factor for psychological distress during genetic cancer susceptibility testing  Journal Articles
• Falling prices and unfair competition in consumer genomics  Journal Articles
• Familial ovarian cancer.  Journal Articles
• Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study  Journal Articles
• Frequency and ethnic distribution of the commonDHCR7 mutation in Smith-Lemli-Opitz syndrome  Journal Articles
• Gastrointestinal polyposis syndromes  Journal Articles
• Genetic Analyses of the Internal Transcribed Spacer Sequences Suggest Introgression and Duplication in the Medicinal Mushroom Agaricus subrufescens  Journal Articles
• Genetic Myopathies Initially Diagnosed and Treated as Inflammatory Myopathy  Journal Articles
• Genetic Testing in Pediatric Epilepsy: Tools, Tips, and Navigating the Traps  Journal Articles
• Genetic Testing in the Evaluation of Unexplained Cardiac Arrest  Journal Articles
• Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways  Journal Articles
• Genetic analysis of impulsive personality traits: Examination of a priori candidates and genome-wide variation  Journal Articles
• Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations  Journal Articles
• Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits  Journal Articles
• Genetic and Chemical Screening in Human Blood Serum Reveals Unique Antibacterial Targets and Compounds against Klebsiella pneumoniae  Journal Articles
• Genetic influences on ADHD symptom dimensions: Examination of a priori candidates, gene‐based tests, genome‐wide variation, and SNP heritability  Journal Articles
• Genetic interaction between α4 and β2 subunits of high affinity nicotinic receptor: analysis in schizophrenia  Journal Articles
• Genetic non-discrimination policy in Canada: Assessing windows of opportunity for policy change  Journal Articles
• Genetic testing for amyotrophic lateral sclerosis in Canada – an assessment of current practices  Journal Articles
• Genetic testing for atherosclerosis risk: Inevitability or pipe dream?  Journal Articles
• Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery  Journal Articles
• Genetics Consultation Rates Following a Diagnosis of High-Grade Serous Ovarian Carcinoma in the Canadian Province of Ontario  Journal Articles
• Genetics in obstetricians? offices: a survey study*1  Journal Articles
• Genetics of early-onset coronary artery disease  Journal Articles
• 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  Journal Articles
• Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke  Journal Articles
• Genomic testing in cancer: Patient knowledge, attitudes, and expectations  Journal Articles
• Genotype-Positive Status in Patients With Hypertrophic Cardiomyopathy Is Associated With Higher Rates of Heart Failure Events  Journal Articles
• Going the distance: the influence of practice location on the Ontario Maternal Serum Screening Program.  Journal Articles
• HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update  Journal Articles
• How interested is the public in genetic testing for colon cancer susceptibility? Report of a cross-sectional population survey.  Journal Articles
• How to Use an Article About Genetic Association  Journal Articles
• Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects  Journal Articles
• Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry  Journal Articles
• Identification of a novel β⁰ ‐ thalassaemia mutation in a greek family and subsequent prenatal diagnosis  Journal Articles
• Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome  Journal Articles
• Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia  Journal Articles
• Impact of Prenatal Risk Factors on Congenital Heart Disease in the Current Era  Journal Articles
• Impact of a Genetic Risk Score on Myocardial Infarction Risk Across Different Ethnic Populations  Journal Articles
• Implementation challenges for an ethical introduction of noninvasive prenatal testing: a qualitative study of healthcare professionals’ views from Lebanon and Quebec  Journal Articles
• Implementing Publicly Funded Noninvasive Prenatal Testing for Fetal Aneuploidy in Ontario, Canada: Clinician Experiences With a Disruptive Technology  Journal Articles
• Importance of genetic testing in unexplained cardiac arrest  Journal Articles
• Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies  Journal Articles
• International Consensus on the Use of Genetics in the Management of Hereditary Angioedema  Journal Articles
• Introduction of non-invasive prenatal testing as a first-tier aneuploidy screening test: A survey among Dutch midwives about their role as counsellors  Journal Articles
• Investigations for fetal and neonatal alloimmune thrombocytopenia: communication from the SSC of the ISTH  Journal Articles
• Is Isolated Palatal Anomaly an Indication to Screen for 22q11 Region Deletion?  Journal Articles
• Local molecular analysis of indeterminate thyroid nodules  Journal Articles
• MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis  Journal Articles
• Mainstream Model of Genetic Testing for Prostate Cancer at a Large Tertiary Cancer Centre  Journal Articles
• Manifestations of Von Hippel Lindau syndrome: a retrospective national review  Journal Articles
• Mapping autism risk loci using genetic linkage and chromosomal rearrangements  Journal Articles
• Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes.  Journal Articles
• Molecular biology approaches to biological monitoring of genotoxic substances  Journal Articles
• Moving Nephrology Genetics into Clinical Care  Journal Articles
• Multi-Ethnic Genetic Association Study of Carotid Intima-Media Thickness Using a Targeted Cardiovascular SNP Microarray  Journal Articles
• Myocardial Diseases: Current Views on Etiopathogenesis, Diagnostic Modalities, and Therapeutic Options  Journal Articles
• Neuronal Correlates of Brain-derived Neurotrophic Factor Val66Met Polymorphism and Morphometric Abnormalities in Bipolar Disorder  Journal Articles
• New treatment paradigms for ADPKD: moving towards precision medicine  Journal Articles
• Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia  Journal Articles
• One of These Things Is Not Like the Others: The Idea of Precedence in Health Technology Assessment and Coverage Decisions  Journal Articles
• Ontario Maternal Serum Screening Program: practices, knowledge and opinions of health care providers.  Journal Articles
• Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year  Journal Articles
• PedSplit: pedigree management for stratified analysis  Journal Articles
• 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  Conferences
• Perceptions About Genetic Testing for the Susceptibility to Alcohol Dependence and Other Multifactorial Diseases  Journal Articles
• Performance characteristics of a brief Family History Questionnaire to screen for Lynch syndrome in women with newly diagnosed endometrial cancer  Journal Articles
• Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing  Journal Articles
• Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes  Journal Articles
• Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C  Journal Articles
• Personalized medicine - the promised land: are we there yet?  Journal Articles
• Platelet glycoprotein Ibα Kozak polymorphism is associated with an increased risk of ischemic stroke  Journal Articles
• Population-Based Study to Determine the Health System Costs of Using the 21-Gene Assay  Journal Articles
• Positive perception of pharmacogenetic testing for psychotropic medications  Journal Articles
• Postal survey of physicians and laboratories: Practices and perceptions of molecular oncology testing  Journal Articles
• Potential Costs and Benefits of Incorporating PGT-A Across Age Groups: A Canadian Clinic Perspective  Journal Articles
• Practice guidelines for BRCA1/2 tumour testing in ovarian cancer  Journal Articles
• Predictive genetic testing for coronary artery disease  Journal Articles
• Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals  Journal Articles
• Preimplantation Genetic Screening in Older Mothers  Journal Articles
• Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies  Journal Articles
• Prenatal screening for congenital anomalies: exploring midwives’ perceptions of counseling clients with religious backgrounds  Journal Articles
• Presence of Alanine-to-Valine Substitutions in Myofibrillogenesis Regulator 1 in Paroxysmal Nonkinesigenic Dyskinesia  Journal Articles
• Preventing tomorrow's sudden cardiac death today  Journal Articles
• 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  Journal Articles
• Prognostic factors for delivery in patients undergoing repeated preimplantation genetic aneuploidy screening  Journal Articles
• Proposed Regulatory Framework for Direct-to-Consumer Genetic Testing: Diagnostics vs Genetic Screening  Journal Articles
• Proteins Required for Centrosome Clustering in Cancer Cells  Journal Articles
• RNA Interference inCaenorhabditis elegans  Journal Articles
• Rapid screening of microsatellite markers for polymorphisms using SYBR ^® Green I and a DNA sequencer  Journal Articles
• Rates of genetic consultation in high-grade serous ovarian cancer patients in the era of PARP inhibitor therapy: A population-based study.  Journal Articles
• Recognizing BRCA gene mutation risk subsequent to breast cancer diagnosis in southwestern Ontario.  Journal Articles
• 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  Journal Articles
• Reply to Just the facts, please  Journal Articles
• Risk evaluation using gene expression screening to monitor for acute cellular rejection in heart transplant recipients  Journal Articles
• Risk factors for ovarian cancer and early-onset breast cancer in Mongolia.  Journal Articles
• Role of phenotypic and genetic testing in managing clopidogrel therapy  Journal Articles
• Role of thrombophilic risk factors in children with non-stroke cerebral palsy  Journal Articles
• Ruling in and ruling out: Implications of molecular genetic diagnoses for disease classification  Journal Articles
• SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations  Journal Articles
• Screening and counseling for thalassemia  Journal Articles
• Screening of hypoxia-inducible genes in sporadic ALS  Journal Articles
• Selecting a BRCA risk assessment model for use in a familial cancer clinic  Journal Articles
• Sequence‐Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2  Journal Articles
• Should adult patients be routinely tested for heritable thrombophilia after an episode of venous thromboembolism?  Journal Articles
• Single-Tube Multiplex-PCR Screen for Anti-3.7 and Anti-4.2 α-Globin Gene Triplications  Journal Articles
• Single-visit screening and treatment of first-degree relatives  Journal Articles
• Spectrum of β-Thalassemia Mutations in Egypt  Journal Articles
• Systematic Genetic Screens Reveal the Dynamic Global Functional Organization of the Bacterial Translation Machinery  Journal Articles
• Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases  Journal Articles
• The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment  Journal Articles
• The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations  Journal Articles
• The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions  Journal Articles
• The complex genetics of amyotrophic lateral sclerosis  Journal Articles
• The genetic landscape of developmental and epileptic encephalopathy with spike-and-wave activation in sleep  Journal Articles
• The hereditary adult-onset ataxias in South Africa  Journal Articles
• The potential to predict the course of childhood asthma  Journal Articles
• The recognition, assessment and management of dementing disorders: conclusions from the Canadian Consensus Conference on Dementia.  Journal Articles
• The role of clinical response to treatment in determining pathogenicity of genomic variants  Journal Articles
• The thalassemias and health care in Canada: a place for genetics in medicine.  Journal Articles
• Transformation of the Anticancer Drug Doxorubicin in the Human Gut Microbiome  Journal Articles
• Translation of Knowledge to Practice—Improving Awareness in NSCLC Molecular Testing  Journal Articles
• Universal Newborn Screening for Hb H Disease in California  Journal Articles
• Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia  Journal Articles
• What next for preimplantation genetic screening? A polar body approach!  Journal Articles
• When research seems like clinical care: a qualitative study of the communication of individual cancer genetic research results  Journal Articles
• Women’s Experiences of Publicly Funded Non-Invasive Prenatal Testing in Ontario, Canada  Journal Articles
• Women’s perspectives on the ethical implications of non-invasive prenatal testing: a qualitative analysis to inform health policy decisions  Journal Articles