| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1083854013 |
| P356 | DOI | 10.1186/S12920-017-0247-4 |
| P932 | PMC publication ID | 5320805 |
| P698 | PubMed publication ID | 28222731 |
| P50 | author | Martina C. Cornel | Q59206152 |
| Karine Sénécal | Q46005825 | ||
| P2093 | author name string | Jan M Friedman | |
| Danya F Vears | |||
| Aaron J Goldenberg | |||
| Karla J Lister | |||
| Global Alliance for Genomics and Health Regulatory and Ethics Working Group Paediatric Task Team | |||
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| First case of Hb Fontainebleau with sickle haemoglobin and other non-deletional α gene variants identified in neonates during newborn screening for sickle cell disorders | Q34213684 | ||
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| 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 | Q34465792 | ||
| Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents | Q34483451 | ||
| Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians | Q34663567 | ||
| State laws regarding the retention and use of residual newborn screening blood samples | Q34725754 | ||
| Clinical exome sequencing for genetic identification of rare Mendelian disorders | Q34782655 | ||
| Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units | Q34820081 | ||
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| Newborn screening: new developments, new dilemmas. | Q35430126 | ||
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| History and current status of newborn screening for severe combined immunodeficiency | Q35613205 | ||
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| Pre-natal origins of childhood leukemia. | Q35692974 | ||
| Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings | Q35776062 | ||
| The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists | Q35848496 | ||
| How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples | Q35884217 | ||
| Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. | Q35918016 | ||
| Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011 | Q36072035 | ||
| Genetic testing for hereditary cancers: the impact of gender on interest, uptake and ethical considerations | Q36442799 | ||
| Uptake rates for breast cancer genetic testing: a systematic review | Q36479647 | ||
| Status of newborn screening programs in the United States | Q36492787 | ||
| Screening criteria: the need to deal with new developments and ethical issues in newborn metabolic screening | Q36511323 | ||
| To know or not to know: a review of behaviour and suicidal ideation in preclinical Huntington's disease | Q36603419 | ||
| Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes | Q36695682 | ||
| Ethical issues with newborn screening in the genomics era | Q36761963 | ||
| Whole Genome Sequencing and Newborn Screening | Q36843628 | ||
| Newborn screening: from Guthrie to whole genome sequencing | Q37060899 | ||
| Whole-Genome Screening of Newborns? The Constitutional Boundaries of State Newborn Screening Programs | Q37082155 | ||
| Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing | Q37082552 | ||
| Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years | Q37108749 | ||
| Point-counterpoint. Ethics and genomic incidental findings | Q37169821 | ||
| A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening | Q37231518 | ||
| A systematic review of the effects of disclosing carrier results generated through newborn screening | Q37310235 | ||
| The political history of PKU: reflections on 50 years of newborn screening | Q37337426 | ||
| A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document | Q37397665 | ||
| Newborn screening: the genomic challenge | Q37649505 | ||
| Expanded newborn screening: social and ethical issues | Q37764737 | ||
| Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review. | Q37972714 | ||
| Molecular methods for pathogen and microbial community detection and characterization: current and potential application in diagnostic microbiology | Q37985256 | ||
| Role of molecular diagnostics in the management of infectious disease emergencies. | Q38055888 | ||
| Incidental findings from clinical genome-wide sequencing: a review | Q38109552 | ||
| Maternal attitudes and knowledge about newborn screening | Q38116893 | ||
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| Inborn errors of metabolism and expanded newborn screening: review and update | Q38167824 | ||
| Predictors of genetic testing decisions: a systematic review and critique of the literature | Q38203489 | ||
| The challenge for the next generation of medical geneticists | Q38212582 | ||
| Diagnostic clinical genome and exome sequencing | Q38221192 | ||
| Next generation sequencing and the future of genetic diagnosis | Q38232771 | ||
| Noninvasive prenatal testing | Q38238937 | ||
| Managing the ethical challenges of next-generation sequencing in genomic medicine | Q38239811 | ||
| Defining and managing incidental findings in genetic and genomic practice | Q38250263 | ||
| Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing | Q38252010 | ||
| Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. | Q38263926 | ||
| Use of cell-free fetal DNA in maternal plasma for noninvasive prenatal screening | Q38280432 | ||
| Cell-free DNA screening for fetal aneuploidy as a clinical service | Q38366898 | ||
| Cancer whole-genome sequencing: present and future. | Q38395966 | ||
| Diagnosis and treatment of cancer using genomics | Q38506597 | ||
| Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening | Q38599808 | ||
| Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing | Q38866800 | ||
| Informed Consent Should Be a Required Element for Newborn Screening, Even for Disorders with High Benefit-Risk Ratios | Q38874947 | ||
| Genetics professionals' opinions of whole-genome sequencing in the newborn period | Q39107529 | ||
| Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing | Q39123382 | ||
| Citizens' values regarding research with stored samples from newborn screening in Canada | Q39663893 | ||
| Information and informed consent for neonatal screening: opinions and preferences of parents | Q40180415 | ||
| Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates. | Q40580392 | ||
| Practical considerations in the clinical application of whole-exome sequencing | Q41441536 | ||
| Can we afford to sequence every newborn baby's genome? | Q41642170 | ||
| The contribution of DNA to the disaster victim identification (DVI) effort | Q41984872 | ||
| The importance of Guthrie cards and other medical samples for the direct matching of disaster victims using DNA profiling | Q41986639 | ||
| Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada | Q43875021 | ||
| Personal utility in genomic testing: is there such a thing? | Q45299444 | ||
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| Evaluating the utility of personal genomic information | Q47593006 | ||
| Informed choice for newborn blood spot screening in the United Kingdom: a survey of parental perceptions. | Q47814315 | ||
| Psychosocial Factors Influencing Parental Interest in Genomic Sequencing of Newborns | Q50235898 | ||
| Government-funded universal newborn hearing screening and genetic analyses of deafness predisposing genes in Taiwan | Q50353003 | ||
| P433 | issue | 1 | |
| P921 | main subject | public health | Q189603 |
| P304 | page(s) | 9 | |
| P577 | publication date | 2017-02-21 | |
| P1433 | published in | BMC Medical Genomics | Q15754662 |
| P1476 | title | Genomic newborn screening: public health policy considerations and recommendations | |
| P478 | volume | 10 |
| Q91079870 | A New Era, New Strategies: Education and Communication Strategies to Manage Greater Access to Genomic Information |
| Q49498072 | Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings |
| Q90425897 | Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening |
| Q91964518 | Early Check: translational science at the intersection of public health and newborn screening |
| Q55464392 | Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol. |
| Q47337769 | Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies |
| Q64892551 | Genetic screening: birthright or earned with age? |
| Q64107539 | Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus |
| Q47096172 | Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice |
| Q47423413 | Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population |
| Q49339134 | Paediatric genomics: diagnosing rare disease in children |
| Q63446436 | Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project |
| Q49448194 | Policy brief: Improve coverage of newborn genetic screening to include the Recommended Uniform Screening Panel and newborn screening registry. |
| Q44243273 | Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions |
| Q57178162 | Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies |
| Q92426075 | Simple Test, Complex System: Multifaceted Views of Newborn Screening Science, Technology, and Policy |
| Q49835278 | The role of the clinician in the multi-omics era: are you ready? |
| Q47113659 | Whole-Genome Sequencing in Newborn Screening-Attitudes and Opinions of Bulgarian Pediatricians and Geneticists |
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