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Is the genomic translational pipeline being disrupted?
- Published in:
- Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0032-4
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- Article
Geisinger's effort to realize its potential as a learning health system: A progress report.
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- Learning Health Systems, 2021, v. 5, n. 2, p. 1, doi. 10.1002/lrh2.10221
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- Article
Generation and Implementation of a Patient-Centered and Patient-Facing Genomic Test Report in the EHR.
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- eGEMS (Generating Evidence & Methods to Improve Patient Outcomes), 2018, v. 6, n. 1, p. 1, doi. 10.5334/egems.256
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- Article
Experience with Integrating Diagnostic Decision Support Software with Electronic Health Records: Benefits versus Risks of Information Sharing.
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- eGEMS (Generating Evidence & Methods to Improve Patient Outcomes), 2017, v. 5, n. 1, p. 1, doi. 10.5334/egems.244
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- Article
Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative.
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- Journal of Personalized Medicine, 2022, v. 12, n. 9, p. N.PAG, doi. 10.3390/jpm12091511
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- Article
Collaborative Approach to Reach Everyone with Familial Hypercholesterolemia: CARE-FH Protocol.
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- Journal of Personalized Medicine, 2022, v. 12, n. 4, p. 606, doi. 10.3390/jpm12040606
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- Article
Economic Evaluation of Universal Lynch Syndrome Screening Protocols among Newly Diagnosed Patients with Colorectal Cancer.
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- Journal of Personalized Medicine, 2021, v. 11, n. 12, p. 1284, doi. 10.3390/jpm11121284
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- Article
Healthcare Utilization and Costs after Receiving a Positive BRCA1/2 Result from a Genomic Screening Program.
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- Journal of Personalized Medicine, 2020, v. 10, n. 1, p. 7, doi. 10.3390/jpm10010007
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- Article
Clinical Pertinence Metric Enables Hypothesis-Independent Genome-Phenome Analysis for Neurologic Diagnosis.
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- Journal of Child Neurology, 2015, v. 30, n. 7, p. 881, doi. 10.1177/0883073814545884
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- Article
Evidence-Based Decision Support for Neurological Diagnosis Reduces Errors and Unnecessary Workup.
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- Journal of Child Neurology, 2014, v. 29, n. 4, p. 487, doi. 10.1177/0883073813483365
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- Article
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.
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- Human Genetics, 2022, v. 141, n. 11, p. 1697, doi. 10.1007/s00439-022-02452-x
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- Article
Genetic testing and employer‐sponsored wellness programs: An overview of current vendors, products, and practices.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1414
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- Article
Moebius syndrome, pituitary dwarfism and hypoplastic optic disc.
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- Pediatrics International, 1998, v. 40, n. 3, p. 294, doi. 10.1111/j.1442-200X.1998.tb01933.x
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- Article
Cross‐cultural representations of conjoined twins.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 240, doi. 10.1002/ajmg.c.31897
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- Article
Implementation of genomic medicine in a health care delivery system: A value proposition?
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 1, p. 112, doi. 10.1002/ajmg.c.31392
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- Article
Genomic medicine implementation: Learning by example.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 1, p. 8, doi. 10.1002/ajmg.c.31394
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- Article
Generic Cost-Effectiveness Models: A Proof of Concept of a Tool for Informed Decision-Making for Public Health Precision Medicine.
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- Public Health Genomics, 2018, v. 21, n. 5/6, p. 217, doi. 10.1159/000500725
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- Article
Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy.
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- Public Health Genomics, 2017, v. 19, n. 6, p. 352, doi. 10.1159/000449152
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- Article
Economic Evaluation of Pharmacogenomics: A Value-Based Approach to Pragmatic Decision Making in the Face of Complexity.
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- Public Health Genomics, 2014, v. 17, n. 5/6, p. 256, doi. 10.1159/000366177
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- Article
Cost-Effectiveness of IL28Β Genotype-Guided Protease Inhibitor Triple Therapy versus Standard of Care Treatment in Patients with Hepatitis C Genotypes 2 or 3 Infection.
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- Public Health Genomics, 2014, v. 17, n. 5/6, p. 306, doi. 10.1159/000365939
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- Article
Enhancing genomic laboratory reports: A qualitative analysis of provider review.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1134, doi. 10.1002/ajmg.a.37573
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- Article
Enhancing genomic laboratory reports from the patients' view: A qualitative analysis.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2238, doi. 10.1002/ajmg.a.37174
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- Article
35<sup>th</sup> Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1685, doi. 10.1002/ajmg.a.37107
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- Article
CHARGE Association: An update and review for the primary ...
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- Clinical Pediatrics, 1998, v. 37, n. 3, p. 159, doi. 10.1177/000992289803700302
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- Article
A GWAS Study on Liver Function Test Using eMERGE Network Participants.
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- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138677
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- Article
Predicting Phenotypic Severity of Uncertain Gene Variants in the RET Proto-Oncogene.
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- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0018380
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- Article
Identification of Four Novel Loci in Asthma in European American and African American Populations.
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- 2017
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- Publication type:
- journal article
Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.
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- JNCI Cancer Spectrum, 2021, v. 5, n. 4, p. 1, doi. 10.1093/jncics/pkab044
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- Article
Cost-Effectiveness of Risk-Stratified Colorectal Cancer Screening Based on Polygenic Risk: Current Status and Future Potential.
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- JNCI Cancer Spectrum, 2020, v. 4, n. 1, p. N.PAG, doi. 10.1093/jncics/pkz086
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- Article
Electronic medical records and personalized medicine.
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- 2011
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- Publication type:
- Report
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.
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- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0078-7
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- Article
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.
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- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0078-7
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- Article
Polycystic Ovary Syndrome Susceptibility Loci Inform Disease Etiological Heterogeneity.
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- Journal of Clinical Medicine, 2021, v. 10, n. 12, p. 2688, doi. 10.3390/jcm10122688
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- Article
Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs.
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- Healthcare (2227-9032), 2018, v. 6, n. 3, p. 83, doi. 10.3390/healthcare6030083
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- Article
Population Genomic Screening for Three Common Hereditary Conditions.
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- Annals of Internal Medicine, 2023, v. 176, n. 11, p. 1, doi. 10.7326/p23-0002
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- Article
Population Genomic Screening for Three Common Hereditary Conditions: A Cost-Effectiveness Analysis.
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- Annals of Internal Medicine, 2023, v. 176, n. 5, p. 585, doi. 10.7326/M22-0846
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- Article
Barriers, facilitators, and solutions to familial hypercholesterolemia treatment.
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- PLoS ONE, 2020, v. 15, n. 12, p. 1, doi. 10.1371/journal.pone.0244193
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- Article
Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
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- BMC Medicine, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12916-022-02375-4
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- Article
Testing and Management of Iron Overload After Genetic Screening–Identified Hemochromatosis.
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- JAMA Network Open, 2023, v. 6, n. 10, p. e2338995, doi. 10.1001/jamanetworkopen.2023.38995
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- Article
Genomics in nephrology: identifying informatics opportunities to improve diagnosis of genetic kidney disorders using a human-centered design approach.
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- Journal of the American Medical Informatics Association, 2024, v. 31, n. 6, p. 1247, doi. 10.1093/jamia/ocae053
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- Article
Genetically guided precision medicine clinical decision support tools: a systematic review.
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- Journal of the American Medical Informatics Association, 2024, v. 31, n. 5, p. 1183, doi. 10.1093/jamia/ocae033
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- Article
Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.
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- Journal of the American Medical Informatics Association, 2024, v. 31, n. 2, p. 536, doi. 10.1093/jamia/ocad211
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- Article
Interoperable genetic lab test reports: mapping key data elements to HL7 FHIR specifications and professional reporting guidelines.
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- 2021
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- Publication type:
- journal article
A retrospective look at the predictions and recommendations from the 2009 AMIA policy meeting: did we see EHR-related clinician burnout coming?
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- 2021
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- journal article
Misdiagnosis: Burnout, moral injury, and implications for the electronic health record.
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- 2021
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- Publication type:
- journal article
Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics Implementation Consortium (CPIC).
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- 2016
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- Publication type:
- journal article
Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants.
- Published in:
- Journal of the American Medical Informatics Association, 2012, v. 19, n. 2, p. 207, doi. 10.1136/amiajnl-2011-000309
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- Article
The polygenic architecture of left ventricular mass mirrors the clinical epidemiology.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-64525-z
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- Article
Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network.
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01059
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- Article
GSTM1 Copy Number Is Not Associated With Risk of Kidney Failure in a Large Cohort.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00765
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- Article