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

<i>Background</i>: 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 interpreta...

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Detalhes bibliográficos

Principais autores:	Danijela Krgovic, Peter Gradisnik, Andreja Osterc Koprivsek, Ana Kogovsek, Nadja Kokalj Vokac, Spela Stangler Herodez
Formato:	Artigo
Idioma:	Inglês
Publicado em:	MDPI AG 2026-03-01
coleção:	Biomolecules
Assuntos:	neurodevelopmental disorders variant interpretation whole-exome sequencing multi-omics integration
Acesso em linha:	https://www.mdpi.com/2218-273X/16/3/399
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