ArticleNeurology. Genetics2025
Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome Sequencing.
Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
What it found
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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
4 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Global, regional, and national burden and trends of neonatal encephalopathy.Pediatric research · 2026Article
- Beyond hypoxic-ischemic encephalopathy: genetic insights and precision diagnosis in neonatal encephalopathies.Frontiers in medicine · 2026Review
- Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.Research square · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
Background and Objectives: Neonatal encephalopathy (NE) is characterized by an abnormal level of consciousness with or without seizures in the neonatal period. It affects 1-6/1,000 live term newborns. We applied genome sequencing (GS) in term newborns with NE to investigate the underlying genetic causes. Methods: We enrolled term newborns according to inclusion/exclusion criteria during their Neonatal Intensive Care admission. We performed GS trio and applied bioinformatic tools. We developed pipelines for manual filters. We applied in silico prediction tools, protein 3D modeling, and functional characterization to assess the pathogenicity of variants. Results: Seventeen newborns fulfilled inclusion criteria. We identified 12 variants in 10 genes. We classified 4 variants in Discussion: The diagnostic rate of research GS was 41% in our prospective study. We broaden the phenotypic spectrum of
Identifiers
What Socratic 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 Socratic graph.