标题
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
出版商
Springer Nature
发表日期
2018-03-15
DOI
10.1038/gim.2018.37
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data
- (2017) Zornitza Stark et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The current state of implementation science in genomic medicine: opportunities for improvement
- (2017) Megan C. Roberts et al. GENETICS IN MEDICINE
- A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology
- (2017) Lisenka E.L.M. Vissers et al. GENETICS IN MEDICINE
- Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement
- (2017) Zornitza Stark et al. GENETICS IN MEDICINE
- Rapid Targeted Genomics in Critically Ill Newborns
- (2017) Cleo C. van Diemen et al. PEDIATRICS
- Use of Exome Sequencing for Infants in Intensive Care Units
- (2017) Linyan Meng et al. JAMA Pediatrics
- Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
- (2017) Tiong Yang Tan et al. JAMA Pediatrics
- Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy
- (2017) Maie Walsh et al. Annals of Clinical and Translational Neurology
- Erratum: Preparing for genomic medicine: a real world demonstration of health system change
- (2017) Clara L. Gaff et al. npj Genomic Medicine
- Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
- (2016) Hussein Daoud et al. CANADIAN MEDICAL ASSOCIATION JOURNAL
- Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
- (2016) Glen R. Monroe et al. GENETICS IN MEDICINE
- A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
- (2016) Zornitza Stark et al. GENETICS IN MEDICINE
- Convergence of Implementation Science, Precision Medicine, and the Learning Health Care System
- (2016) David A. Chambers et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Potential Psychosocial Risks of Sequencing Newborns
- (2016) L. A. Frankel et al. PEDIATRICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Global implementation of genomic medicine: We are not alone
- (2015) Teri A. Manolio et al. Science Translational Medicine
- Rapid whole genome sequencing and precision neonatology
- (2015) Joshua E. Petrikin et al. SEMINARS IN PERINATOLOGY
- Cpipe: a shared variant detection pipeline designed for diagnostic settings
- (2015) Simon P. Sadedin et al. Genome Medicine
- Emergency medical genomes: a breakthrough application of precision medicine
- (2015) Stephen F. Kingsmore et al. Genome Medicine
- A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
- (2015) Neil A. Miller et al. Genome Medicine
- Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
- (2015) Laurel K Willig et al. Lancet Respiratory Medicine
- Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions
- (2014) Kelly D. Farwell et al. GENETICS IN MEDICINE
- Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
- (2014) S. E. Soden et al. Science Translational Medicine
- Implementing genomic medicine in the clinic: the future is here
- (2013) Teri A. Manolio et al. GENETICS IN MEDICINE
- PhenoTips: Patient Phenotyping Software for Clinical and Research Use
- (2013) Marta Girdea et al. HUMAN MUTATION
- Fostering implementation of health services research findings into practice: a consolidated framework for advancing implementation science
- (2009) Laura J Damschroder et al. Implementation Science
- Discussing withholding and withdrawing of life-sustaining medical treatment in paediatric inpatients: Audit of current practice
- (2008) Zornitza Stark et al. JOURNAL OF PAEDIATRICS AND CHILD HEALTH
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started