Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?
出版年份 2018 全文链接
标题
Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
出版商
Springer Nature
发表日期
2018-06-12
DOI
10.1038/s41436-018-0055-z
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。- Meeting the challenges of implementing rapid genomic testing in acute pediatric care
- (2018) Zornitza Stark et al. GENETICS IN MEDICINE
- Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness
- (2018) Zornitza Stark et al. GENETICS IN MEDICINE
- Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray
- (2017) Robin Z. Hayeems et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- 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
- Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
- (2017) Anath C Lionel 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
- Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research
- (2017) Kathryn A. Phillips et al. GENETICS IN MEDICINE
- No Shortcuts on the Long Road to Evidence-Based Genomic Medicine
- (2017) Muin J. Khoury JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome
- (2017) Kate L. Del Bel et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Controversy and debate on clinical genomics sequencing—paper 1: genomics is not exceptional: rigorous evaluations are necessary for clinical applications of genomic sequencing
- (2017) Brenda J. Wilson et al. JOURNAL OF CLINICAL EPIDEMIOLOGY
- Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
- (2017) Jennifer E. Posey et al. NEW ENGLAND JOURNAL OF 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
- Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants
- (2016) T. F. Beck et al. CLINICAL CHEMISTRY
- 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
- Recommendations for Conduct, Methodological Practices, and Reporting of Cost-effectiveness Analyses
- (2016) Gillian D. Sanders et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic
- (2016) Konstantinos N. Lazaridis et al. MAYO CLINIC PROCEEDINGS
- Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
- (2016) S Anazi et al. MOLECULAR PSYCHIATRY
- Potential Psychosocial Risks of Sequencing Newborns
- (2016) L. A. Frankel et al. PEDIATRICS
- Whole-Genome Sequencing and Disability in the NICU: Exploring Practical and Ethical Challenges
- (2016) M. J. Deem PEDIATRICS
- Deep sequencing of 10,000 human genomes
- (2016) Amalio Telenti et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genomic intensive care: should we perform genome testing in critically ill newborns?: Table 1
- (2015) Dominic JC Wilkinson et al. Archives of Disease in Childhood-Fetal and Neonatal Edition
- Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics
- (2015) GENETICS IN MEDICINE
- Translating personalized genomic medicine into clinical practice: evidence, values, and health policy
- (2015) Yvonne Bombard GENOME
- QALYs in cost-effectiveness analysis: an overview for cardiologists
- (2015) Olivier J Wouters et al. HEART
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Rapid whole genome sequencing and precision neonatology
- (2015) Joshua E. Petrikin et al. SEMINARS IN PERINATOLOGY
- Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders
- (2015) Laurie D. Smith et al. Cold Spring Harbor Perspectives in Medicine
- Emergency medical genomes: a breakthrough application of precision medicine
- (2015) Stephen F. Kingsmore 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
- Analytical validation of whole exome and whole genome sequencing for clinical applications
- (2014) Michael D Linderman et al. BMC Medical Genomics
- Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory
- (2014) Samuel P. Strom et al. GENETICS IN MEDICINE
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Personal utility in genomic testing: is there such a thing?
- (2014) Eline M Bunnik et al. JOURNAL OF MEDICAL ETHICS
- Diagnostic Clinical Genome and Exome Sequencing
- (2014) Leslie G. Biesecker et al. NEW ENGLAND JOURNAL OF MEDICINE
- Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays
- (2014) J. B. Moeschler et al. PEDIATRICS
- 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
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- (2010) David T. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- QALYs: The Basics
- (2009) Milton C. Weinstein et al. VALUE IN HEALTH
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