Subject Areas on Research
- "Family matters": a conceptual framework for genetic testing in children.
- 2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: Executive Summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines, and the Heart Rhythm Society.
- A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.
- A Guide for a Cardiovascular Genomics Biorepository: the CATHGEN Experience.
- A RNA interference screen identifies RIP3 as an essential inducer of TNF-induced programmed necrosis.
- A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease.
- A SAGE study of apolipoprotein E3/3, E3/4 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease.
- A Systematic Review of Discrete Choice Experiments and Conjoint Analysis on Genetic Testing.
- A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease.
- A combination of molecular markers and clinical features improve the classification of pancreatic cysts.
- A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region.
- A gene hunting we will go!
- A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases.
- 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.
- A germ-line deletion of APOBEC3B does not contribute to subtype-specific childhood acute lymphoblastic leukemia etiology.
- A high-density screen for linkage in multiple sclerosis.
- A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.
- A new class of temporarily phenotypic enhancers identified by CRISPR/Cas9-mediated genetic screening.
- A new method to accurately identify single nucleotide variants using small FFPE breast samples.
- A novel human disease with abnormal prion protein sensitive to protease.
- A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system.
- A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone.
- A review of hereditary breast cancer: from screening to risk factor modification.
- A second-generation genomic screen for multiple sclerosis.
- A suppressor/enhancer screen in Drosophila reveals a role for wnt-mediated lipid metabolism in primordial germ cell migration.
- A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders.
- A tiling-deletion-based genetic screen for cis-regulatory element identification in mammalian cells.
- A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.
- ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.
- APOL1: a case in point for replacing race with genetics.
- ASO Author Reflections: The Pressing Need for Germline Genetic Testing.
- Absence of PTEN germ-line mutations in men with a potential inherited predisposition to prostate cancer.
- Adherence to Recommended Risk Management among Unaffected Women with a BRCA Mutation.
- Affected-sib-pair interval mapping and exclusion for complex genetic traits: sampling considerations.
- Algorithms for prediction of the Oncotype DX recurrence score using clinicopathologic data: a review and comparison using an independent dataset.
- American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.
- Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise.
- An N-ethyl-N-nitrosourea mutagenesis recessive screen identifies two candidate regions for murine cardiomyopathy that map to chromosomes 1 and 15.
- An autosomal genomic screen for dementia in an extended Amish family.
- An inevitable dilemma: prenatal testing for mutations in the BRCA1 breast-ovarian cancer susceptibility gene.
- An unusual cause of dyspnoea in a young man.
- Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer.
- Anatomy of disturbed sleep in pallido-ponto-nigral degeneration.
- Androgen receptor variant-driven prostate cancer II: advances in clinical investigation.
- Androgen receptor variant-driven prostate cancer II: advances in laboratory investigations.
- Apolipoprotein E epsilon4 allele and outcomes of traumatic spinal cord injury.
- Apolipoprotein E modifies neurological outcome by affecting cerebral edema but not hematoma size after intracerebral hemorrhage in humans.
- Application of a rank-based genetic association test to age-at-onset data from the Collaborative Study on the Genetics of Alcoholism study.
- Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
- Association Between Use of the 21-Gene Recurrence Score Assay and Receipt of Chemotherapy Among Medicare Beneficiaries With Early-Stage Breast Cancer, 2005-2009.
- Association of 21-Gene Assay (OncotypeDX) Testing and Receipt of Chemotherapy in the Medicare Breast Cancer Patient Population Following Initial Adoption.
- Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.
- Atherosclerotic risk genotypes and recurrent coronary events after myocardial infarction.
- Atrial Fibrillation and Ischemic Stroke With the Amyloidogenic V122I Transthyretin Variant Among Black Americans.
- Attitudes and Knowledge of Maternal-Fetal Medicine Fellows Regarding Noninvasive Prenatal Testing.
- AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes.
- Axon regeneration pathways identified by systematic genetic screening in C. elegans.
- BRCA testing within the Department of Veterans Affairs: concordance with clinical practice guidelines.
- BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes.
- Bad Nature, Bad Nurture, and Testimony Regarding MAOA and SLC6A4 Genotyping in Murder Trials
- Barriers and Strategies Related to Qualitative Research on Genetic Ancestry Testing in Indigenous Communities.
- Beyond the Genetic Information Nondiscrimination Act: ethical and economic implications of the exclusion of disability, long-term care and life insurance.
- Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.
- Biological and analytical stability of a peripheral blood gene expression score for obstructive coronary artery disease in the PREDICT and COMPASS studies.
- Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.
- Broadening the View of Germline Mutations in Kidney Cancer.
- Call for action: expanding global access to hereditary cancer genetic testing.
- Calvarial mass as a presenting feature of neurofibromatosis type 2 in a pediatric patient.
- Carbamazepine-induced toxic effects and HLA-B*1502 screening in Taiwan.
- Cardiac repolarization: current knowledge, critical gaps, and new approaches to drug development and patient management.
- Cardiovascular risk factor profiles in familial hypercholesterolemia patients with and without genetic mutation compared to a nationally representative sample of adults in a high-risk European country.
- Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.
- Catechol O-methyltransferase haplotype predicts immediate musculoskeletal neck pain and psychological symptoms after motor vehicle collision.
- Catechol-O-methyltransferase gene polymorphisms are associated with multiple pain-evoking stimuli.
- Cell-Free DNA Screening: Complexities and Challenges of Clinical Implementation.
- Challenges to integrating pharmacogenetic testing into medication therapy management.
- Challenging Neuromuscular Disease Cases.
- Chapter 11: challenges in and principles for conducting systematic reviews of genetic tests used as predictive indicators.
- Characterization of BRCA1 and BRCA2 mutations in a large United States sample.
- Chemotherapy Costs and 21-Gene Recurrence Score Genomic Testing Among Medicare Beneficiaries With Early-Stage Breast Cancer, 2005 to 2011.
- Child μ-opioid receptor gene variant influences parent-child relations.
- Clinical Impact of 21-Gene Recurrence Score Test Within the Veterans Health Administration: Utilization and Receipt of Guideline-Concordant Care.
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for IFNL3 (IL28B) genotype and PEG interferon-α-based regimens.
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for codeine therapy in the context of cytochrome P450 2D6 (CYP2D6) genotype.
- Clinical Pharmacogenetics Implementation Consortium guidelines for cytochrome P450 2D6 genotype and codeine therapy: 2014 update.
- Clinical Utilization of Pharmacogenetics in Psychiatry - Perspectives of Pharmacists, Genetic Counselors, Implementation Science, Clinicians, and Industry.
- Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
- Clinical application of cardiovascular pharmacogenetics.
- Clinical application of pharmacogenetics: focusing on practical issues.
- Clinical genomic testing: getting it right.
- Clinical genomics in the world of the electronic health record.
- Clinical utility of FoundationOne tissue molecular profiling in men with metastatic prostate cancer.
- Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.
- Cloning and molecular characterization of a cDNA clone to statin, a protein specifically expressed in nonproliferating quiescent and senescent fibroblasts.
- Clopidogrel metaboliser status based on point-of-care CYP2C19 genetic testing in patients with coronary artery disease.
- Combination HIV prevention among MSM in South Africa: results from agent-based modeling.
- Community pharmacists' experience with pharmacogenetic testing.
- Comparison of delivery strategies for pharmacogenetic testing services.
- Complete genomic screen for disease susceptibility loci in nuclear families.
- Complete genomic screen in late-onset familial Alzheimer's disease.
- Complexities of Genetic Testing in Familial Dilated Cardiomyopathy.
- Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia.
- Comprehensive genomic profiling of relapsed and metastatic adenoid cystic carcinomas by next-generation sequencing reveals potential new routes to targeted therapies.
- Congenital Heart Disease: Prenatal Diagnosis and Genetic Associations.
- Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).
- Congenital long QT syndrome: considerations for primary care physicians.
- Considerations for the impact of personal genome information: a study of genomic profiling among genetics and genomics professionals.
- Considerations of germline testing in prostate cancer screening.
- Consumer perspectives on genetic testing for psychiatric disorders: the attitudes of veterans with posttraumatic stress disorder and their families.
- Contemplating genetic feedback regarding lung cancer susceptibility.
- Coping with genetic testing for breast cancer susceptibility.
- Cost Comparison of Genetic Testing Strategies in Women With Epithelial Ovarian Cancer.
- Cost impact of molecular testing for indeterminate thyroid nodule fine-needle aspiration biopsies.
- Cost-effectiveness of HLA-B*1502 genotyping in adult patients with newly diagnosed epilepsy in Singapore.
- Cost-effectiveness of HLA-B*1502 genotyping in adult patients with newly diagnosed epilepsy in Singapore.
- Cost-effectiveness of epidermal growth factor receptor mutation testing and first-line treatment with gefitinib for patients with advanced adenocarcinoma of the lung.
- Current national health insurance coverage policies for breast and ovarian cancer prophylactic surgery.
- Cystic fibrosis and the National Institutes of Health consensus statement: are obstetrician-gynecologists ready to comply?
- Cystic fibrosis carrier screening using next generation sequencing: A cautionary tale.
- DNA patents and diagnostics: not a pretty picture.
- Data and animal management software for large-scale phenotype screening.
- De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy.
- Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations.
- Dementia with Lewy bodies and Alzheimer's disease.
- Design and rationale of GUARDD-US: A pragmatic, randomized trial of genetic testing for APOL1 and pharmacogenomic predictors of antihypertensive efficacy in patients with hypertension.
- Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis.
- Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
- Detection of subclinical fabry disease in patients presenting with hypertrophic cardiomyopathy.
- Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
- Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis.
- Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology.
- Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).
- Differences between African American and White research volunteers in their attitudes, beliefs and knowledge regarding genetic testing for Alzheimer's disease.
- Differential screening of a subtracted cDNA library: a method to search for genes preferentially expressed in multiple tissues.
- Discovery of the Elusive UDP-Diacylglucosamine Hydrolase in the Lipid A Biosynthetic Pathway in Chlamydia trachomatis.
- Disparities in Genetic Testing for Heritable Solid-Tumor Malignancies.
- Disposition of sperm donors with resultant abnormal pregnancies.
- Dissecting the genetics of human high myopia: a molecular biologic approach.
- Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.
- Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
- Do platelet function testing and genotyping improve outcome in patients treated with antithrombotic agents?: platelet function testing and genotyping improve outcome in patients treated with antithrombotic agents.
- Does Type 2 Diabetes Genetic Testing and Counseling Reduce Modifiable Risk Factors? A Randomized Controlled Trial of Veterans.
- Drosophila, genetic screens, and cardiac function.
- EGFR mutation testing and TKI treatment patterns among veterans with stage III and IV non-small cell lung cancer.
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
- Effect of genetic testing for risk of type 2 diabetes mellitus on health behaviors and outcomes: study rationale, development and design.
- Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.
- Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.
- Ensuring the safe use of genomic medicine in children.
- Establishment of stably EBV-transformed cell lines from residual clinical blood samples for use in performance evaluation and quality assurance in molecular genetic testing.
- Estimating Preferences for Complex Health Technologies: Lessons Learned and Implications for Personalized Medicine.
- Estimating the number of potential family members eligible for BRCA1 and BRCA2 mutation testing in a "Traceback" approach.
- Ethical issues of predictive genetic testing for diabetes.
- Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes.
- Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.
- Evaluation of genetic tests: APOE genotyping for the diagnosis of Alzheimer disease.
- Evaluation of the PharmGKB knowledge base as a resource for efficiently assessing the clinical validity and utility of pharmacogenetic assays.
- Evidence of off-target effects associated with long dsRNAs in Drosophila melanogaster cell-based assays.
- Examining the impact of genetic testing for type 2 diabetes on health behaviors: study protocol for a randomized controlled trial.
- Exome Sequencing and Its Emerging Role in Prenatal Genetic Diagnosis.
- Exome/Genome Sequencing in Undiagnosed Syndromes.
- Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
- Exploratory planning and implementation of a pilot pharmacogenetic program in a community pharmacy.
- Facilitated cascade testing (FaCT): a randomized controlled trial.
- Factors influencing uptake of pharmacogenetic testing in a diverse patient population.
- False positive rates in a genomic screen for complex quantitative traits.
- Familial breast-ovarian cancer syndromes: BRCA1 and BRCA2.
- Familial hypercholesterolemia: Detect, treat, and ask about family.
- Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice.
- First Responder to Genomic Information: A Guide for Primary Care Providers.
- Focused goodness of fit tests for gene set analyses.
- From diagnostic testing to precision medicine: the evolving role of genomics in cardiac channelopathies and cardiomyopathies in children.
- Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
- GNAS sequencing identifies IPMN-specific mutations in a subgroup of diminutive pancreatic cysts referred to as "incipient IPMNs".
- Gene targeting of a CFTR allele in HT29 human epithelial cells.
- Genetic Counseling and Testing in African American Patients With Breast Cancer: A Nationwide Survey of US Breast Oncologists.
- Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.
- Genetic Screen in Chlamydia muridarum Reveals Role for an Interferon-Induced Host Cell Death Program in Antimicrobial Inclusion Rupture.
- Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association.
- Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association.
- Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
- Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.
- Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
- Genetic analysis of social-class mobility in five longitudinal studies.
- Genetic considerations in recurrent pregnancy loss.
- Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.
- Genetic lesions in diffuse large B-cell lymphomas.
- Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
- Genetic pathway analysis reveals a major role for extracellular matrix organization in inflammatory and neuropathic pain.
- Genetic screen of African Americans with Fuchs endothelial corneal dystrophy.
- Genetic testing and tumor surveillance for children with cancer predisposition syndromes.
- Genetic testing for Alzheimer's and long-term care insurance.
- Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis.
- Genetic testing in nephrotic syndrome--challenges and opportunities.
- Genetic testing: clinical and personal utility.
- Genetic variation at a single locus and age of onset for Alzheimer's disease.
- Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015.
- Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
- Genetic/familial high-risk assessment: breast and ovarian, version 1.2014.
- Genetic/familial high-risk assessment: breast and ovarian.
- Genetic/familial high-risk assessment: breast and ovarian.
- Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy.
- Genetics and ethics: reaffirming the tragic vision.
- Genetics of Breast Cancer: Risk Models, Who to Test, and Management Options.
- Genetics of multiple sclerosis.
- Genetics professionals are key to the integration of genetic testing within the practice of frontline clinicians.
- Genome technologies and personalized dental medicine.
- Genome-wide association for smoking cessation success in a trial of precessation nicotine replacement.
- Genome-wide linkage scan for prostate cancer susceptibility from the University of Michigan Prostate Cancer Genetics Project: suggestive evidence for linkage at 16q23.
- Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke.
- Genomic and personalized medicine: foundations and applications.
- Genomic counseling: next generation counseling.
- Genomic risk profiling: attitudes and use in personal and clinical care of primary care physicians who offer risk profiling.
- Genomic screen and follow-up analysis for autistic disorder.
- Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes.
- Genomic sweeping for hypermethylated genes.
- Genomic tests for ovarian cancer detection and management.
- Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.
- Genotypic effect of the -565C>T polymorphism in the ABCA1 gene promoter on ABCA1 expression and severity of atherosclerosis.
- Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing.
- Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium.
- Germline Genetic Testing: What the Breast Surgeon Needs to Know.
- Germline Testing in Prostate Cancer: Implementation and Disparities of Care.
- Glaucoma genetics: advancing new understandings of glaucoma pathogenesis.
- Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
- Guidelines for Cystic Fibrosis Carrier Screening in the Prenatal/Preconception Period.
- HER2 testing in metastatic colorectal cancer: ready for prime time?
- HTS-Compatible CometChip Enables Genetic Screening for Modulators of Apoptosis and DNA Double-Strand Break Repair.
- Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
- Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome.
- Hereditary hemochromatosis: gene discovery and its implications for population-based screening.
- Hereditary nonpolyposis colorectal cancer: preventive management.
- High relative deoxyribonucleic acid content of trophectoderm biopsy adversely affects pregnancy outcomes.
- High-frequency actionable pathogenic exome variants in an average-risk cohort.
- Hmo1p, a high mobility group 1/2 homolog, genetically and physically interacts with the yeast FKBP12 prolyl isomerase.
- Horizon Scan Of Clinical Laboratories Offering Pharmacogenetic Testing.
- How Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation.
- IGNITE network: Response of patients to genomic medicine interventions.
- Identification of Undetected Monogenic Cardiovascular Disorders.
- Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.
- Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.
- Identification of genes from the fungal pathogen Cryptococcus neoformans related to transmigration into the central nervous system.
- Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.
- Identifying Genetic Players in Cell Sheet Morphogenesis Using a Drosophila Deficiency Screen for Genes on Chromosome 2R Involved in Dorsal Closure.
- Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier gene.
- Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients.
- Impact of Gene Patents and Licensing Practices on Access to Genetic Testing for Cystic Fibrosis
- Impact of Genetic Testing and Family Health History Based Risk Counseling on Behavior Change and Cognitive Precursors for Type 2 Diabetes.
- Impact of Patents and Licensing Practices on Access to Genetic Testing for Inherited Susceptibility to Cancer: Comparing Breast and Ovarian Cancers to Colon Cancers
- Impact of delivery models on understanding genomic risk for type 2 diabetes.
- Impact of gene patents and licensing practices on access to genetic testing for long QT syndrome.
- Impact of limited population diversity of genome-wide association studies.
- Impact of self-reported data on the acquisition of multi-generational family history and lifestyle factors among women seen in a high-risk breast screening program: a focus on modifiable risk factors and genetic referral.
- Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer.
- Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019.
- Implementation of a pharmacogenomics service in a community pharmacy.
- Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.
- Incorporating privileged genetic information for fundus image based glaucoma detection.
- Incorporation of pharmacogenetic testing into medication therapy management.
- Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers.
- Incremental cost-effectiveness of algorithm-driven genetic testing versus no testing for Maturity Onset Diabetes of the Young (MODY) in Singapore.
- Inferring genetic ancestry: opportunities, challenges, and implications.
- Influence of genetic risk information on parental role identity in adolescent girls and young women from families with fragile X syndrome.
- Information-seeking and sharing behavior following genomic testing for diabetes risk.
- Initial outcomes and insights from a novel high-risk prostate cancer screening clinic.
- Integrating chemical mutagenesis and whole-genome sequencing as a platform for forward and reverse genetic analysis of Chlamydia.
- Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.
- Interest in BRCA1/2 testing in a primary care population.
- Interest in genetic prostate cancer susceptibility testing among african American men.
- Interest in testing for genetic susceptibility to lung cancer among Black college students "at risk" of becoming cigarette smokers.
- Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies.
- Interpretation of noninvasive prenatal testing results following in vitro fertilization and preimplantation genetic testing for aneuploidy.
- Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.
- Interpreting a study on bladder cancer screening.
- Intratumor heterogeneity and precision of microarray-based predictors of breast cancer biology and clinical outcome.
- Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.
- Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
- Isocitrate dehydrogenase 1: what it means to the neurosurgeon: a review.
- Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder.
- Knowledge about genomic recurrence risk testing among breast cancer survivors.
- Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.
- Lack of association between juvenile idiopathic arthritis and fas gene polymorphism.
- Life after the screen: making sense of many P-values.
- LigAmp for sensitive detection of single-nucleotide differences.
- Long non-coding RNA metastasis associated in lung adenocarcinoma transcript 1 derived miniRNA as a novel plasma-based biomarker for diagnosing prostate cancer.
- Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping.
- Loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression.
- Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus.
- Lower incidence of deletions in the survival of motor neuron gene and the neuronal apoptosis inhibitory protein gene in children with spinal muscular atrophy from Serbia.
- Making pharmacogenetic testing a reality in a community pharmacy.
- Management Considerations for Ongoing Pregnancies Complicated by Trisomy 13 and 18.
- Management of Male Breast Cancer: ASCO Guideline.
- Managing incidental genomic findings: legal obligations of clinicians.
- Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
- Maternal microchimerism in Hirschsprung's disease.
- Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41.
- Medical genomics: Gather and use genetic data in health care.
- Medical oncologists' perspectives of the Veterans Affairs National Precision Oncology Program.
- Medical technologies for the diagnosis of prostate cancer.
- Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.
- Minimizing the risk of reporting false positives in large-scale RNAi screens.
- Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
- Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.
- Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
- Molecular and genetic approaches for the analysis of C. elegans neuronal development.
- Molecular and genetic biomarkers implemented from next-generation sequencing provide treatment insights in clinical practice for Waldenström macroglobulinemia.
- Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009).
- Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys.
- Motion--genetic testing is useful in the diagnosis of nonhereditary pancreatic conditions: arguments against the motion.
- Motivations for genetic testing for lung cancer risk among young smokers.
- Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome.
- Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.
- Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
- Mutation screening of the macrophage migration inhibitory factor gene: positive association of a functional polymorphism of macrophage migration inhibitory factor with juvenile idiopathic arthritis.
- Myelodysplastic syndromes, version 2.2015.
- NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
- New developments in proteomics.
- Next-Generation Sequencing Concordance Analysis of Comprehensive Solid Tumor Profiling between a Centralized Specialty Laboratory and the Decentralized Personal Genome Diagnostics elio Tissue Complete Kitted Solution.
- Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
- Nicotine abstinence genotyping: assessing the impact on smoking cessation clinical trials.
- Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.
- Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.
- Nurses are an asset to an in vitro fertilization program, and more so if they are continually educated.
- Nurses' communication of pharmacogenetic test results as part of discharge care.
- Observed evidence for guideline-recommended genes in predicting prostate cancer risk from a large population-based cohort.
- Occupational exposure to pesticides increases the risk of incident AD: the Cache County study.
- Outcome of Pancreatic Cancer Surveillance Among High-Risk Individuals Tested for Germline Mutations in BRCA1 and BRCA2.
- Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
- PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.
- Parents' attitudes toward pediatric genetic testing for common disease risk.
- Parsing the genetic heterogeneity of chromosome 12q susceptibility genes for Alzheimer disease by family-based association analysis.
- Patient beliefs and behaviors about genomic risk for type 2 diabetes: implications for prevention.
- Pediatric solid tumors and associated cancer predisposition syndromes: Workup, management, and surveillance. A summary from the APSA Cancer Committee.
- Persistent DNA damage signaling and DNA polymerase theta promote broken chromosome segregation.
- Personal DNA testing in college classrooms: perspectives of students and professors.
- Pharmacogenetic challenges for the health care system.
- Pharmacogenetic guidance for antiplatelet treatment.
- Pharmacogenetic testing: not as simple as it seems.
- Pharmacogenetics: Ethical Issues and Policy Options
- PheProb: probabilistic phenotyping using diagnosis codes to improve power for genetic association studies.
- Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15.
- Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG).
- Population genetic analyses reveal the African origin and strain variation of Cryptococcus neoformans var. grubii.
- Posttraumatic stress associated with cancer history and BRCA1/2 genetic testing.
- Practical Considerations and Challenges for Germline Genetic Testing in Patients With Prostate Cancer: Recommendations From the Germline Genetics Working Group of the PCCTC.
- Practical ethics: establishing a pathway to benefit for complex pharmacogenomic tests.
- Precision Medicine: From Science To Value.
- Precision medicine gets an ASSIST in diagnostic testing.
- Precocious osteoarthritis in a family with recurrent COL2A1 mutation.
- Preconception Evaluation Before In Vitro Fertilization.
- Preconceptional counseling and intervention.
- Predictors of consent to pharmacogenomics testing in the IDEAL study.
- Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene.
- Preimplantation genetic diagnosis for inherited neurological disorders.
- Preimplantation genetic testing for aneuploidy is cost-effective, shortens treatment time, and reduces the risk of failed embryo transfer and clinical miscarriage.
- Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?
- Prenatal diagnosis using fetal cells from the maternal circulation.
- Prenatal gene tranfer: scientific, medical, and ethical issues: a report of the Recombinant DNA Advisory Committee.
- Prenatal genetic diagnosis of Neu-Laxova syndrome.
- Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems.
- Preventing tomorrow's sudden cardiac death today: part I: Current data on risk stratification for sudden cardiac death.
- Primary care physicians' knowledge of and experience with pharmacogenetic testing.
- Primary-care physicians' access to genetic specialists: an impediment to the routine use of genomic medicine?
- Proposal for a pharmacogenetics certificate program for pharmacists.
- Prostate Cancer Predisposition.
- Psychological distress and quality of life associated with genetic testing for breast cancer risk.
- Psychosocial factors associated with genetic testing status among African American women with ovarian cancer: Results from the African American Cancer Epidemiology Study.
- Public attitudes toward ancillary information revealed by pharmacogenetic testing under limited information conditions.
- Public knowledge of and attitudes toward genetics and genetic testing.
- Public perspectives about pharmacogenetic testing and managing ancillary findings.
- Quality measures in high-risk pregnancies: Executive Summary of a Cooperative Workshop of the Society for Maternal-Fetal Medicine, National Institute of Child Health and Human Development, and the American College of Obstetricians and Gynecologists.
- Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease.
- Quest for a less invasive approach to preimplantation genetic testing remains ongoing.
- RIP3 Regulates Autophagy and Promotes Coxsackievirus B3 Infection of Intestinal Epithelial Cells.
- Racial/Ethnic Disparities in BRCA Counseling and Testing: a Narrative Review.
- Radiogenomics: what it is and why it is important.
- Randomized Trial of Telegenetics vs. In-Person Cancer Genetic Counseling: Cost, Patient Satisfaction and Attendance.
- Randomized trial of a decision aid for BRCA1/BRCA2 mutation carriers: impact on measures of decision making and satisfaction.
- Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.
- Real-Time Genomic Profiling of Pancreatic Ductal Adenocarcinoma: Potential Actionability and Correlation with Clinical Phenotype.
- Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.
- Reconsidering the family history in primary care.
- Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele.
- Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.
- Regional differences in awareness and attitudes regarding genetic testing for disease risk and ancestry.
- Regulation: The FDA is Overcautious on Consumer Genetics
- Relationships among breast cancer concern, risk perceptions, and interest in genetic testing for breast cancer susceptibility among African-American women with and without a family history of breast cancer.
- Report from Durham.
- Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network.
- Researcher practices on returning genetic research results.
- Response to Rosenberg et al.
- Responses to online GSTM1 genetic test results among smokers related to patients with lung cancer: a pilot study.
- Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases.
- Review of evidence for genetic testing for CYP450 polymorphisms in management of patients with nonpsychotic depression with selective serotonin reuptake inhibitors.
- Rising PSA Level in an Anxious Postprostatectomy Patient.
- Risk assessment for developing gliomas: a comparison of two cytogenetic approaches.
- Risk of preeclampsia in second-trimester triploid pregnancies.
- Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
- Robust testing of haplotype/disease association.
- Role of BRCA1 mutation screening in the management of familial ovarian cancer.
- Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.
- SMAD4 mutations found in unselected HHT patients.
- SMFM Fetal Anomalies Consult Series #4: Genitourinary anomalies.
- SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts.
- Screening for cancers of the head and neck: addressing the problem.
- Screening for the breast cancer gene (BRCA1) using a biochip system and molecular beacon probes immobilized on solid surfaces.
- Screening of CFTR mutations in an isolated population: identification of carriers and patients.
- Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.
- Screening the genome for rheumatoid arthritis susceptibility genes: a replication study and combined analysis of 512 multicase families.
- Secretin-induced Duodenal Aspirate of Pancreatic Juice (SIDA): Utility of Commercial Genetic Analysis.
- Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2.
- Sequential sib-pair and association studies to detect genes in quantitative traits.
- Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review.
- Single nucleotide polymorphisms in multiple novel thrombospondin genes may be associated with familial premature myocardial infarction.
- Single nucleotide variation in the TP53 3' untranslated region in diffuse large B-cell lymphoma treated with rituximab-CHOP: a report from the International DLBCL Rituximab-CHOP Consortium Program.
- Soft tissue sarcoma, version 2.2014.
- Sonographic similarities of inclusion body myositis and myotonic dystrophy.
- Sports medicine and ethics.
- Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.
- Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.
- Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.
- Striking a balance in communicating pharmacogenetic test results: promoting comprehension and minimizing adverse psychological and behavioral response.
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
- Summarizing polygenic risks for complex diseases in a clinical whole-genome report.
- Surface-enhanced Raman scattering substrate based on a self-assembled monolayer for use in gene diagnostics.
- Survey of US public attitudes toward pharmacogenetic testing.
- Survey of genetic counselors and clinical geneticists' use and attitudes toward pharmacogenetic testing.
- Synthetic lethality between HER2 and transaldolase in intrinsically resistant HER2-positive breast cancers.
- Systems-based approaches to cardiovascular disease.
- T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.
- TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse.
- Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study.
- Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
- Targeted long-read sequencing identifies missing disease-causing variation.
- Targeting the human epidermal growth factor receptor 2 (HER2) oncogene in colorectal cancer.
- Testing for cytochrome P450 polymorphisms in adults with non-psychotic depression treated with selective serotonin reuptake inhibitors (SSRIs).
- Testing for hereditary breast and ovarian cancer in the southeastern United States.
- Testing the effect of rare compound-heterozygous and recessive mutations in case--parent sequencing studies.
- The FMR1 premutation and reproduction.
- The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. II. An autosomal genome scan for diabetes-related quantitative-trait loci.
- The IGNITE network: a model for genomic medicine implementation and research.
- The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.
- The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.
- The Risk of Congenital Anomalies by Fertility Treatment Modality.
- The apolipoprotein E genotype predicts longitudinal transitions to mild cognitive impairment but not to Alzheimer's dementia: findings from a nationally representative study.
- The current clinical value of the DCIS Score.
- The dangers of diagnostic monopolies.
- The economic burden of genetic tests for the infertile male: a pilot algorithm to improve test predictive value.
- The enduring importance of family health history in the era of genomic medicine and risk assessment.
- The ethical and social implications of exploring African American genealogies.
- The feasibility of online genetic testing for lung cancer susceptibility: uptake of a web-based protocol and decision outcomes.
- The genetic epidemiology of multiple sclerosis.
- The impact of contemporary preimplantation genetic screening and diagnosis on the detection of aneuploidy and inherited genetic diseases.
- The impact of prenatally diagnosed Klinefelter Syndrome on obstetric and neonatal outcomes.
- The importance of dynamic re-analysis in diagnostic whole exome sequencing.
- The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901.
- The pharmacogenetics of antiplatelet agents: towards personalized therapy?
- The role of cystic fibrosis gene mutations in determining susceptibility to chronic pancreatitis.
- The role of genetic testing for cancer susceptibility in gynecologic practice.
- The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders.
- The role of ultrasound in women who undergo cell-free DNA screening.
- The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.
- Thermosensory and nonthermosensory isoforms of Drosophila melanogaster TRPA1 reveal heat-sensor domains of a thermoTRP Channel.
- Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene.
- Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency.
- Thrombin-induced platelet-fibrin clot strength: relation to high on-clopidogrel platelet reactivity, genotype, and post-percutaneous coronary intervention outcomes.
- Thrombophilia screening in asymptomatic children.
- Thrombophilias: when should we test and how does it help?
- Tilting at windmills no longer: a data-driven discussion of DTC DNA ancestry tests.
- Toward clinical genomics in everyday medicine: perspectives and recommendations.
- Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach.
- Treatment of steroid-resistant nephrotic syndrome in the genomic era.
- Tumour necrosis factor receptor II polymorphism and juvenile idiopathic arthritis.
- US physicians' attitudes toward genetic testing for cancer susceptibility.
- Understanding the Revised Fourth Edition of the World Health Organization Classification of Tumours of the Central Nervous System (2016) for Clinical Decision-making: A Guide for Oncologists Managing Patients with Glioma.
- Uptake of KRAS Testing and Anti-EGFR Antibody Use for Colorectal Cancer in the VA.
- Use of HLA-B*58:01 genotyping to prevent allopurinol induced severe cutaneous adverse reactions in Taiwan: national prospective cohort study.
- Validation of gene signatures that predict the response of breast cancer to neoadjuvant chemotherapy: a substudy of the EORTC 10994/BIG 00-01 clinical trial.
- Valuations of genetic test information for treatable conditions: the case of colorectal cancer screening.
- Virulence factors identified by Cryptococcus neoformans mutant screen differentially modulate lung immune responses and brain dissemination.
- We are the genes we've been waiting for: rational responses to the gathering storm of personal genomics.
- What are the required components of pre- and post-test counseling?
- What happens in the long term: Uptake of cancer surveillance and prevention strategies among at-risk relatives with pathogenic variants detected via cascade testing.
- What's New in Genetic Testing for Cancer Susceptibility?
- What's New in Prenatal Genetics? A Review of Current Recommendations and Guidelines.
- When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families.
- Whole blood gene expression testing for coronary artery disease in nondiabetic patients: major adverse cardiovascular events and interventions in the PREDICT trial.
- Whole-genome sequencing holds the key to the success of gene-targeted therapies.
- Women's experiences with genomic testing for breast cancer recurrence risk.
- Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
- Young smokers' interpretations of the estimated lung cancer risk associated with a common genetic variant of low penetrance.
Keywords of People
- Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
- Cho, Alex Han, Associate Professor of Medicine, Medicine, General Internal Medicine
- Farahany, Nita A., Robinson O. Everett Distinguished Professor of Law, Duke Science & Society
- James, Michael Lucas, Associate Professor of Anesthesiology, Anesthesiology
- Jowell, Paul Simon, Professor of Medicine, Medicine, Gastroenterology
- Landstrom, Andrew Paul, Associate Professor of Pediatrics, Cell Biology
- Laskowitz, Daniel Todd, Professor of Neurology, Duke Science & Society
- Maldonado, Ramiro, Assistant Professor of Ophthalmology, Ophthalmology, Vitreoretinal Diseases & Surgery
- Orlando, Lori Ann, Professor of Medicine, Medicine, General Internal Medicine
- Pitt, Geoffrey Stuart, Adjunct Professor in the Department of Medicine, Medicine, Cardiology
- Sampson, John Howard, Robert H., M.D. and Gloria Wilkins Professor of Neurosurgery, in the School of Medicine, Biomedical Engineering
- Yancy Jr., William Samuel, Professor of Medicine, Medicine, General Internal Medicine