标题
Rapid genomic testing for critically ill children: time to become standard of care?
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 30, Issue 2, Pages 142-149
出版商
Springer Science and Business Media LLC
发表日期
2021-11-08
DOI
10.1038/s41431-021-00990-y
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。- Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level
- (2021) Stephanie Best et al. npj Genomic Medicine
- Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand
- (2021) Wuttichart Kamolvisit et al. CLINICAL GENETICS
- Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment
- (2021) Ilias Goranitis et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care
- (2021) David Dimmock et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Parents’ experiences of decision making for rapid genomic sequencing in intensive care
- (2021) Fiona Lynch et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
- (2021) Mallory J. Owen et al. NEW ENGLAND JOURNAL OF MEDICINE
- Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption
- (2021) Linda S. Franck et al. JOURNAL OF PEDIATRICS
- Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders
- (2020) Abigail S. Carey et al. PEDIATRIC RESEARCH
- Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges
- (2020) Melissa Hill et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Parental experiences of ultrarapid genomic testing for their critically unwell infants and children
- (2020) Gemma R. Brett et al. GENETICS IN MEDICINE
- Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
- (2020) et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children
- (2020) Amanda S. Freed et al. JOURNAL OF PEDIATRICS
- Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit
- (2020) Robert Śmigiel et al. Journal of Clinical Medicine
- Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate
- (2020) Lauren S. Akesson et al. HUMAN MUTATION
- Rapid acute care genomics: Challenges and opportunities for genetic counselors
- (2020) Fiona Lynch et al. Journal of Genetic Counseling
- Clinical utility of genomic sequencing: a measurement toolkit
- (2020) Robin Z. Hayeems et al. npj Genomic Medicine
- Integrating Genomics into Healthcare: A Global Responsibility
- (2019) Zornitza Stark et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit
- (2019) Emma E. Smith et al. Journal of Genetic Counseling
- Genetic counseling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates
- (2019) Samantha Ayres et al. Journal of Genetic Counseling
- Ethical and Psychosocial Issues in Whole Genome Sequencing (WGS) for Newborns
- (2019) John D. Lantos PEDIATRICS
- Rapid Challenges: Ethics and Genomic Neonatal Intensive Care
- (2019) Christopher Gyngell et al. PEDIATRICS
- Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit
- (2019) Natalie B Tan et al. JOURNAL OF PAEDIATRICS AND CHILD HEALTH
- Factors complicating the informed consent process for whole exome sequencing in neonatal and pediatic intensive care units
- (2019) Callie J. Diamonstein Journal of Genetic Counseling
- Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
- (2019) Courtney E. French et al. INTENSIVE CARE MEDICINE
- Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes
- (2019) Deborah Schofield et al. GENETICS IN MEDICINE
- Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges
- (2019) Sarah V. Clowes Candadai et al. Journal of Genetic Counseling
- Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
- (2019) Michelle M. Clark et al. Science Translational Medicine
- Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care
- (2019) Zornitza Stark et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges
- (2019) Alison M. Elliott et al. EUROPEAN JOURNAL OF PEDIATRICS
- Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU
- (2019) Erica F. Sanford et al. Pediatric Critical Care Medicine
- Mendelian Gene Discovery: Fast and Furious with No End in Sight
- (2019) Michael J. Bamshad et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
- (2019) Stephen F. Kingsmore et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
- (2019) Cynthia S. Gubbels et al. GENETICS IN MEDICINE
- Anticipating uncertainty and irrevocable decisions: provider perspectives on implementing whole-genome sequencing in critically ill children with heart disease
- (2018) Danton S Char et al. GENETICS IN MEDICINE
- 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
- Genetic Counseling in the Era of Genomics: What’s all the Fuss about?
- (2018) Gemma R Brett et al. Journal of Genetic Counseling
- Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
- (2018) Lauge Farnaes et al. npj Genomic Medicine
- The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
- (2018) Josh E. Petrikin et al. npj Genomic Medicine
- Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
- (2018) Lamia Mestek-Boukhibar et al. JOURNAL OF MEDICAL GENETICS
- The current state of implementation science in genomic medicine: opportunities for improvement
- (2017) Megan C. Roberts et al. GENETICS IN MEDICINE
- Whole genome sequencing in children: ethics, choice and deliberation
- (2017) Ainsley J Newson JOURNAL OF MEDICAL ETHICS
- Beyond Adoption: A New Framework for Theorizing and Evaluating Nonadoption, Abandonment, and Challenges to the Scale-Up, Spread, and Sustainability of Health and Care Technologies
- (2017) Trisha Greenhalgh et al. JOURNAL OF MEDICAL INTERNET RESEARCH
- 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
- Recommendations for Conduct, Methodological Practices, and Reporting of Cost-effectiveness Analyses
- (2016) Gillian D. Sanders et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Whole-Genome Sequencing and Disability in the NICU: Exploring Practical and Ethical Challenges
- (2016) M. J. Deem PEDIATRICS
- 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
- 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
- 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
- Points to consider in the clinical application of genomic sequencing
- (2012) GENETICS IN MEDICINE
- Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
- (2012) C. J. Saunders et al. Science Translational Medicine
- The answer is 17 years, what is the question: understanding time lags in translational research
- (2011) Zoë Slote Morris et al. JOURNAL OF THE ROYAL SOCIETY OF MEDICINE
- Fostering implementation of health services research findings into practice: a consolidated framework for advancing implementation science
- (2009) Laura J Damschroder et al. Implementation Science
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now