Genetic Testing

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  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. 
  • Indecision. 
  • 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. 
  • Introduction. 
  • 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