Associated Papers
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
41170324 (PubMed )
Supplement: Data_Sheet_5.XLS › NDD-NPDs
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.
Bartolomaeus T et al.
European Journal of Human Genetics : Ejhg, 2023
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
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