Article

Trio Genome Sequencing Identifies Diagnostic and Candidate Genes in Neurodevelopmental Disorder Unresolved by Prior Testing

2026-08-17

Abstract excerpt

Approximately 75% of individuals with neurodevelopmental disorders (NDD) remain without a molecular diagnosis after first-tier genetic testing, and a substantial share of that gap reflects the pace of gene-disease discovery rather than sequencing technology alone (Stefanski et al., 2021). Here we report trio genome sequencing in 36 probands with NDD or epilepsy who remained molecularly unsolved despite prior genet...

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Literature Corpus work: b583fc2a-b0da-5a5f-96e2-8c17b5a4ec3e
DOI: 10.20944/preprints202608.1074.v1

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