标题
The BabySeq project: implementing genomic sequencing in newborns
作者
关键词
Newborn screening, Newborn sequencing, Whole exome sequencing, Methods, Randomized trial, Ethical, legal, social implications
出版物
BMC Pediatrics
Volume 18, Issue 1, Pages -
出版商
Springer Nature
发表日期
2018-07-09
DOI
10.1186/s12887-018-1200-1
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 curated gene list for reporting results of newborn genomic sequencing
- (2017) Ozge Ceyhan-Birsoy et al. GENETICS IN MEDICINE
- Newborn Sequencing in Genomic Medicine and Public Health
- (2017) Jonathan S. Berg et al. PEDIATRICS
- Potential Psychosocial Risks of Sequencing Newborns
- (2016) L. A. Frankel et al. PEDIATRICS
- Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
- (2016) Frederick E. Dewey et al. SCIENCE
- Reclassification of genetic-based risk predictions as GWAS data accumulate
- (2016) Joel Krier et al. Genome Medicine
- Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates
- (2016) Stephanie Klinkenberg-Ramirez et al. Applied Clinical Informatics
- Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
- (2015) Jeffrey R. Botkin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- Rapid whole genome sequencing and precision neonatology
- (2015) Joshua E. Petrikin et al. SEMINARS IN PERINATOLOGY
- Secondary findings and carrier test frequencies in a large multiethnic sample
- (2015) Tomasz Gambin 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
- A systematic approach to the reporting of medically relevant findings from whole genome sequencing
- (2014) Heather M McLaughlin et al. BMC Medical Genetics
- Parents are interested in newborn genomic testing during the early postpartum period
- (2014) Susan E. Waisbren et al. GENETICS IN MEDICINE
- Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing
- (2014) Arindam Bhattacharjee 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
- Clinical Interpretation and Implications of Whole-Genome Sequencing
- (2014) Frederick E. Dewey et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Diagnostic Clinical Genome and Exome Sequencing
- (2014) Leslie G. Biesecker et al. NEW ENGLAND JOURNAL OF MEDICINE
- The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine
- (2014) Jason L Vassy et al. Trials
- Technical report: ethical and policy issues in genetic testing and screening of children
- (2013) Laine Friedman Ross et al. GENETICS IN MEDICINE
- After 50 Years, Newborn Screening Continues to Yield Public Health Gains
- (2013) Bridget M. Kuehn JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- A novel clinician interface to improve clinician access to up-to-date genetic results
- (2013) Allison R Wilcox et al. JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
- Ethical and Policy Issues in Genetic Testing and Screening of Children
- (2013) et al. PEDIATRICS
- Pharmacogenomics Knowledge for Personalized Medicine
- (2012) M Whirl-Carrillo et al. CLINICAL PHARMACOLOGY & THERAPEUTICS
- Communicating new knowledge on previously reported genetic variants
- (2012) Samuel J. Aronson et al. GENETICS IN MEDICINE
- Usability of a novel clinician interface for genetic results
- (2012) Pamela M. Neri et al. JOURNAL OF BIOMEDICAL INFORMATICS
- Human Genome Sequencing in Health and Disease
- (2011) Claudia Gonzaga-Jauregui et al. Annual Review of Medicine
- Genomics and the Continuum of Cancer Care
- (2011) Ultan McDermott et al. NEW ENGLAND JOURNAL OF MEDICINE
- Unlocking Mendelian disease using exome sequencing
- (2011) Christian Gilissen et al. GENOME BIOLOGY
- Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature
- (2010) Christopher H Wade et al. GENETICS IN MEDICINE
- Clinical Implications of the Cancer Genome
- (2010) Laura E. MacConaill et al. JOURNAL OF CLINICAL ONCOLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now