ReviewGenetics in medicine : official journal of the American College of Medical Genetics2019
Foundation of the Newborn Screening Translational Research Network and its tools for research.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed.
- The Path to Screening US Newborns for Severe Combined Immunodeficiency, 1968-2018: A Narrative Review of a Successful Biomedical Research and Public Health Partnership.Public health genomics · 2026Review
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Precision medicine via the integration of phenotype-genotype information in neonatal genome project.Fundamental research · 2022Review
- Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot.International journal of neonatal screening · 2022Article
- dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening.International journal of neonatal screening · 2022Article
- The Progress and Future of US Newborn Screening.International journal of neonatal screening · 2022Review
- Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- Review
- Defining the Healthy Infant Metabolome: Liquid Chromatography Tandem-Mass Spectrometry Analysis of Dried Blood Spot Extracts from the Prospective Research on Early Determinants of Illness and Children's Health Trajectories Birth Cohort Study.The Journal of pediatrics · 2022Article
- Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.Frontiers in genetics · 2022Article
- Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).Frontiers in genetics · 2022Article
- ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts.International journal of neonatal screening · 2021Article
- The Human Phenotype Ontology in 2021.Nucleic acids research · 2021Article
- Empowering newborn screening programs in African countries through establishment of an international collaborative effort.Journal of community genetics · 2020Article
- Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.International journal of neonatal screening · 2020Article
- Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.Orphanet journal of rare diseases · 2020Article
- Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance.Frontiers in pediatrics · 2020Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In the past 20 years, several policy activities were undertaken that shaped today's newborn screening (NBS) programs and their associated NBS research activities: the Newborn Screening Task Force Report; the Child Health Act of 2000, Screening for Heritable Disorders; the American College of Medical Genetics and Genomics' (ACMG's) Newborn Screening Uniform Panel; and the ACMG expert panel to examine the development of a national collaborative study system for rare genetic diseases. These activities helped conceptualize the Newborn Screening Translational Research Network (NBSTRN) infrastructure and lay the foundation for its current activities. After 10 years, NBSTRN has grown into an organization that provides tools and resources for researchers to conduct research relevant to NBS programs for rare diseases for which data has been siloed locally. Infrastructure includes tools for the analytical and clinical validation of screening tests; the collection, analysis, sharing, and reporting of longitudinal laboratory and clinical data on newborn-screened individuals; and a web-based tool that allows researchers to acquire dried blood spots available for use in research from state NBS programs. NBSTRN also provides tools for researchers such as informed consent templates, disease registries, state NBS profiles, and consultation on planning pilot studies. In time, the growing data will become a resource itself.
Indexed as
Identifiers
30393376What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.