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Diagnostic Utility of Trio–Exome Sequencing for Children With Neurodevelopmental Disorders

25 Mar 2025

Abstract excerpt

Importance: Copy number variants (CNVs) and single-nucleotide variations (SNVs) or insertions and deletions are key genetic contributors to neurodevelopmental disorders (NDDs). Traditionally, chromosome microarray and exome sequencing (ES) have been used to detect CNVs and single gene variants, respectively. Objective: To identify genetic variants causing NDDs and evaluate the diagnostic yield and clinical...

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PMID: 40131272
DOI: 10.1001/jamanetworkopen.2025.1807

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