ArticleInternational journal of neonatal screening2019
Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy.
Article in International journal of neonatal screening, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed.
- digitalMLPA EZtec-MS: A new highly multiplexed DNA probe-based technique for neonatal screening.European journal of human genetics : EJHG · 2026Article
- Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program.International journal of neonatal screening · 2026Article
- Neonatal screening for spinal muscular atrophy: Report of a multicenter study in Brazil.Genetics and molecular biology · 2026Article
- Validation on the First-Tier Fully Automated High-ThroughputInternational journal of neonatal screening · 2025Article
- Newborn screening and the screening laboratory: past, present and future.European thyroid journal · 2025Review
- Cost-Effectiveness Analysis of Newborn Screening for Spinal Muscular Atrophy in Italy.Clinical drug investigation · 2024Article
- Our Journey from Individual Efforts to Nationwide Support: Implementing Newborn Screening for Spinal Muscular Atrophy in Serbia.International journal of neonatal screening · 2024Article
- Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies.International journal of molecular sciences · 2023Review
- Neonatal screening for spinal muscular atrophy: A pilot study in Brazil.Genetics and molecular biology · 2023Article
- Advances and limitations for the treatment of spinal muscular atrophy.BMC pediatrics · 2022Review
- Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs.International journal of neonatal screening · 2021Article
- Assessment of Spinal Muscular Atrophy Carrier Status by DeterminingInternational journal of neonatal screening · 2020Article
- A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study.International journal of neonatal screening · 2019Article
- Simple Test, Complex System: Multifaceted Views of Newborn Screening Science, Technology, and Policy.Global pediatric health · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant mortality with an incidence of 1:10,000. The recently-introduced antisense oligonucleotide treatment improves the outcome of this disease, in particular when applied at an early stage of progression. The genetic cause of SMA is, in >95% of cases, a homozygous deletion of the survival motor neuron 1 (
Indexed as
Identifiers
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.