Building evidence and measuring clinical outcomes for genomic medicine
暂无分享,去创建一个
[1] Cecelia P. Tamburro,et al. Genomic medicine for undiagnosed diseases , 2019, The Lancet.
[2] Marc S. Williams,et al. Pharmacogenomics , 2019, The Lancet.
[3] R. Mägi,et al. Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia , 2018, Genetics in Medicine.
[4] Anjali D. Zimmer,et al. Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative , 2018, Journal of the National Cancer Institute.
[5] Michael J. Ackerman,et al. Reappraisal of Reported Genes for Sudden Arrhythmic Death , 2018, Circulation.
[6] S. Yamashita,et al. Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017 , 2018, Journal of atherosclerosis and thrombosis.
[7] Mary E. Haas,et al. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations , 2018, Nature Genetics.
[8] John J. Connolly,et al. Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs , 2018, Healthcare.
[9] D. Bowen,et al. Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature. , 2018, Health affairs.
[10] The 100 000 Genomes Project: bringing whole genome sequencing to the NHS , 2018, British Medical Journal.
[11] D. Smedley,et al. The 100 000 Genomes Project: bringing whole genome sequencing to the NHS , 2018, British Medical Journal.
[12] Melissa L. Harry,et al. Implementation, Adoption, and Utility of Family Health History Risk Assessment in Diverse Care Settings: evaluating implementation processes and impact with an implementation framework , 2018, Genetics in Medicine.
[13] A. Sturm,et al. How Can We Reach At-Risk Relatives? Efforts to Enhance Communication and Cascade Testing Uptake: a Mini-Review , 2018, Current Genetic Medicine Reports.
[14] M. Khoury,et al. Prevalence and Predictors of Cholesterol Screening, Awareness, and Statin Treatment Among US Adults With Familial Hypercholesterolemia or Other Forms of Severe Dyslipidemia (1999–2014) , 2018, Circulation.
[15] Joshua C Denny,et al. Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention. , 2018, JACC. Cardiovascular interventions.
[16] John P. McCrae,et al. Putting patients in control of data from electronic health records , 2018, British Medical Journal.
[17] Matthew S. Lebo,et al. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants , 2017, Genetics in Medicine.
[18] E. Braunwald,et al. Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. , 2017, Circulation research.
[19] L. Mestroni,et al. Dilated Cardiomyopathy: Genetic Determinants and Mechanisms , 2017, Circulation research.
[20] Muin J Khoury,et al. A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system , 2017, Genetics in Medicine.
[21] Ebony B Madden,et al. Developing a Common Framework for Evaluating the Implementation of Genomic Medicine Interventions in Clinical Care: The IGNITE Network’s Common Measures Working Group , 2017, Genetics in Medicine.
[22] Matthew S. Lebo,et al. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort , 2017, bioRxiv.
[23] Kathryn A Phillips,et al. Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research , 2017, Genetics in Medicine.
[24] M. P. Douglas,et al. Payer Coverage for Hereditary Cancer Panels: Barriers, Opportunities, and Implications for the Precision Medicine Initiative. , 2017, Journal of the National Comprehensive Cancer Network : JNCCN.
[25] Dustin N. Hartzel,et al. Genetic identification of familial hypercholesterolemia within a single U.S. health care system , 2016, Science.
[26] W. Chung,et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics , 2016, Genetics in Medicine.
[27] E. Boerwinkle,et al. Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease. , 2016, The New England journal of medicine.
[28] R. Green,et al. Aggregate penetrance of genomic variants for actionable disorders in European and African Americans , 2016, Science Translational Medicine.
[29] Paul A. Harris,et al. PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability , 2016, J. Am. Medical Informatics Assoc..
[30] Manousos E. Kambouris,et al. Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy , 2016, Public Health Genomics.
[31] M. Dwyer,et al. Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology. , 2016, Journal of the National Comprehensive Cancer Network : JNCCN.
[32] Levi C. T. Pierce,et al. Deep sequencing of 10,000 human genomes , 2016, Proceedings of the National Academy of Sciences.
[33] Joseph S. Salama,et al. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. , 2016, American journal of human genetics.
[34] Muin J Khoury,et al. Convergence of Implementation Science, Precision Medicine, and the Learning Health Care System: A New Model for Biomedical Research. , 2016, JAMA.
[35] R. Green,et al. Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk Estimates: Effect on Low-Density Lipoprotein Cholesterol Levels (the MI-GENES Clinical Trial). , 2016, Circulation.
[36] Mary Brophy,et al. Million Veteran Program: A mega-biobank to study genetic influences on health and disease. , 2016, Journal of clinical epidemiology.
[37] Matthew K Ito,et al. The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association. , 2015, Circulation.
[38] Diane Hauser,et al. The IGNITE network: a model for genomic medicine implementation and research , 2015, BMC Medical Genomics.
[39] D. Ledbetter,et al. The Geisinger MyCode Community Health Initiative: an electronic health record-linked biobank for Precision Medicine research , 2015, Genetics in Medicine.
[40] Sarah M. Hartz,et al. Identification of Medically Actionable Secondary Findings in the 1000 Genomes , 2015, PloS one.
[41] L. Brooks,et al. ClinGen--the Clinical Genome Resource. , 2015, The New England journal of medicine.
[42] Avni Santani,et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification , 2015, Genome research.
[43] Harold Varmus,et al. A new initiative on precision medicine. , 2015, New England Journal of Medicine.
[44] Jennifer M. Taber,et al. Information Avoidance Tendencies, Threat Management Resources, and Interest in Genetic Sequencing Feedback , 2015, Annals of behavioral medicine : a publication of the Society of Behavioral Medicine.
[45] Magalie S Leduc,et al. Molecular findings among patients referred for clinical whole-exome sequencing. , 2014, JAMA.
[46] Francis S. Collins,et al. PCORnet: turning a dream into reality , 2014, J. Am. Medical Informatics Assoc..
[47] A. McGuire,et al. Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group , 2014, Genetics in Medicine.
[48] Kensaku Kawamoto,et al. Characterizing genetic variants for clinical action , 2014, American journal of medical genetics. Part C, Seminars in medical genetics.
[49] Deanna M. Church,et al. ClinVar: public archive of relationships among sequence variation and human phenotype , 2013, Nucleic Acids Res..
[50] Felix W Frueh,et al. Regulation, reimbursement, and the long road of implementation of personalized medicine--a perspective from the United States. , 2013, Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research.
[51] Catherine Boileau,et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease , 2013, European heart journal.
[52] Melissa A. Basford,et al. The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future , 2013, Genetics in Medicine.
[53] Douglas MacFadden,et al. SHRINE: Enabling Nationally Scalable Multi-Site Disease Studies , 2013, PloS one.
[54] Dan M. Roden,et al. Implementing genomic medicine in the clinic: the future is here , 2013, Genetics in Medicine.
[55] Jennifer G. Robinson,et al. Treatment of adults with familial hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. , 2011, Journal of clinical lipidology.
[56] M. Guyer,et al. Charting a course for genomic medicine from base pairs to bedside , 2011, Nature.
[57] T. Marteau,et al. Effects of communicating DNA-based disease risk estimates on risk-reducing behaviours. , 2010, The Cochrane database of systematic reviews.
[58] Muin J. Khoury,et al. The evidence dilemma in genomic medicine. , 2008, Health affairs.
[59] M. Rothmund,et al. Age‐related penetrance of endocrine tumours in multiple endocrine neoplasia type 1 (MEN1): a multicentre study of 258 gene carriers , 2007, Clinical endocrinology.
[60] M. Eccles,et al. Welcome to Implementation Science , 2006, Implementation Science.
[61] R. Glasgow,et al. Evaluating the public health impact of health promotion interventions: the RE-AIM framework. , 1999, American journal of public health.
[62] V. Stigliano,et al. [The Lynch syndrome]. , 1999, La Clinica terapeutica.
[63] I. Makino. [Diagnosis and treatment of familial hypercholesterolemia]. , 1992, [Hokkaido igaku zasshi] The Hokkaido journal of medical science.
[64] S. Friedman,et al. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017. , 2017, Journal of the National Comprehensive Cancer Network : JNCCN.
[65] Matthew S. Lebo,et al. The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. , 2017, Annals of internal medicine.
[66] Yu-Chuan Li,et al. Observational Health Data Sciences and Informatics (OHDSI): Opportunities for Observational Researchers , 2015, MedInfo.
[67] Patrick B. Ryan,et al. Validation of a common data model for active safety surveillance research , 2012, J. Am. Medical Informatics Assoc..
[68] J. Haddow,et al. Recommendations from the EGAPP Working Group: Routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members , 2011, Genetics in Medicine.