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Title
The BabySeq project: implementing genomic sequencing in newborns
Authors
Keywords
Newborn screening, Newborn sequencing, Whole exome sequencing, Methods, Randomized trial, Ethical, legal, social implications
Journal
BMC Pediatrics
Volume 18, Issue 1, Pages -
Publisher
Springer Nature
Online
2018-07-09
DOI
10.1186/s12887-018-1200-1
References
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Related references
Note: Only part of the references are listed.- A curated gene list for reporting results of newborn genomic sequencing
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- (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
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- A systematic approach to the reporting of medically relevant findings from whole genome sequencing
- (2014) Heather M McLaughlin et al. BMC Medical Genetics
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- (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
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- Ethical and Policy Issues in Genetic Testing and Screening of Children
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- 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
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- Genomics and the Continuum of Cancer Care
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- Unlocking Mendelian disease using exome sequencing
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- Clinical Implications of the Cancer Genome
- (2010) Laura E. MacConaill et al. JOURNAL OF CLINICAL ONCOLOGY
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