ReviewInternational journal of neonatal screening2020
Translating Molecular Technologies into Routine Newborn Screening Practice.
Review in International journal of neonatal screening, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 27 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
27 citing papers in PubMed.
- Mucopolysaccharidosis Type II Screening, Diagnosis, and Management: A Literature Review and Practical Recommendations for Newborn Screening Programs and Health Care Providers to Support Families and Improve Outcomes.International journal of neonatal screening · 2026Review
- 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
- Validation on the First-Tier Fully Automated High-ThroughputInternational journal of neonatal screening · 2025Article
- Article
- Results of the Hungarian Newborn Screening Pilot Program for Spinal Muscular Atrophy.International journal of neonatal screening · 2025Article
- Holistic precision wellness: Paving the way for next-generation precision medicine (ngPM) with AI, biomedical informatics, and clinical medicine.FASEB bioAdvances · 2025Article
- Racial inequities and rareJournal of clinical & translational endocrinology · 2024Article
- Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach.Cancers · 2024Review
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents.International journal of neonatal screening · 2024Article
- A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.International journal of neonatal screening · 2023Article
- Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project.Orphanet journal of rare diseases · 2023Article
- Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018.International journal of neonatal screening · 2023Article
- Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.American journal of medical genetics. Part C, Seminars in medical genetics · 2023Article
- Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease.American journal of medical genetics. Part C, Seminars in medical genetics · 2023Article
- Cross-sectional survey on genetic testing utilization and perceptions in Wisconsin Amish and Mennonite communities.Journal of community genetics · 2023Article
- Detection of disease-causing CFTR variants in state newborn screening programs.Pediatric pulmonology · 2023Article
- A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.PloS one · 2023Article
- Newborn Screening by Genomic Sequencing: Opportunities and Challenges.International journal of neonatal screening · 2022Article
- Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.International journal of neonatal screening · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
As biotechnologies advance and better treatment regimens emerge, there is a trend toward applying more advanced technologies and adding more conditions to the newborn screening (NBS) panel. In the current Recommended Uniform Screening Panel (RUSP), all conditions but one, congenital hypothyroidism, have well-defined genes and inheritance patterns, so it is beneficial to incorporate molecular testing in NBS when it is necessary and appropriate. Indeed, the applications of molecular technologies have taken NBS to previously uncharted territory. In this paper, based on our own program experience and what has been reported in the literature, we describe current practices regarding the applications of molecular technologies in routine NBS practice in the era of genomic and precision medicine.
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What 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.