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Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.

Biomolecules - 8 Mar 2026

Krgovic Danijela, Gradisnik Peter, Osterc Koprivsek Andreja, Kogovsek Ana, Kokalj Vokac Nadja, Stangler Herodez Spela

Abstract excerpt

Background: Neurodevelopmental disorders (NDDs) are genetically heterogeneous, and exome sequencing (ES) is now a first-line diagnostic tool. However, many patients receive variants of uncertain significance (VUSs) or inherited variants with incomplete penetrance, limiting clinical interpretation. Emerging multi-omics evidence from the literature can support the interpretation of novel and rare variants, helping...

Topics

Humans
Neurodevelopmental Disorders
Exome Sequencing
Multiomics
Female
Child
Male
Child, Preschool
Genetic Testing
Exome
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Open in PubMed Open full text

Identifiers

PMID: 41897335
DOI: 10.3390/biom16030399
PMCID: PMC13023965

Genes

CHD4
KMT5B
SPTBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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