ArticleGenes2026
Genomic Reanalysis of Neurodevelopmental Disorders With and Without Epilepsy: Diagnostic Yield and Mechanisms of Newly Established Diagnoses.
Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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.
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Authors and funding
4 authors.
Funding
Abstract
BACKGROUND/
objectivesGenomic reanalysis may provide additional molecular diagnoses in patients with neurodevelopmental disorders (NDDs) whose initial genetic testing was nondiagnostic. We evaluated the diagnostic yield and mechanisms of newly established diagnoses in NDDs with and without epilepsy.
methodsWe retrospectively reviewed 175 patients with previously unresolved NDDs who underwent whole-exome sequencing between 2015 and 2024. Archived WES variant call format (VCF) files were reannotated using updated databases and variant prioritization criteria, followed by phenotype- and inheritance-informed clinical interpretation. Patients were classified as NDD without epilepsy (
resultsFive new molecular diagnoses were established, yielding an incremental diagnostic yield of 3% (5/175). The yield was numerically higher in the NDD+E group than in the NDD group (7% [3/42] vs. 2% [2/133]), although the difference was not statistically significant (
conclusionsGenomic re-evaluation provided additional diagnoses in a modest but clinically relevant proportion of previously unresolved pediatric NDD cases. Periodic, phenotype-informed reassessment of existing genomic data, together with complementary testing when indicated, may resolve diagnoses missed or uninterpretable at the initial evaluation.
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