ArticleCold Spring Harbor molecular case studies2018
Reconciling newborn screening and a novel splice variant in
Article in Cold Spring Harbor molecular case studies, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02422511 (Genomic Sequencing for Childhood Risk and Newborn Illness), which is not on this map. Cited by 7 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.
Genomic Sequencing for Childhood Risk and Newborn Illness (The BabySeq Project)
Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2020Trial
- Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the Literature.Case reports in neurological medicine · 2025Article
- The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.American journal of human genetics · 2024Article
- A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.Journal of pediatric genetics · 2023Review
- Ethical issues raised by new genomic technologies: the case study of newborn genome screening.Cambridge prisms. Precision medicine · 2023Review
- Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.NAR genomics and bioinformatics · 2020Article
- Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.American journal of human genetics · 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
18 authors at 7 institutions in 1 country.
Funding
Abstract
Here, we report a newborn female infant from the well-baby cohort of the BabySeq Project who was identified with compound heterozygous
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.