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Author

P. Limprasert

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Open access Aug 2026

Utility of High-Throughput Genomic Analysis for Genetic Counseling in Large Family with Wilson Disease Carrying a Novel 28-bp ATP7B Splice-Junction Deletion

The clinical utility of integrated high-throughput genomic analysis for molecular diagnosis and genetic counseling in a large Thai family affected by Wilson disease was demonstrated and the value of integrated genomic analysis for molecular diagnosis, cascade testing, and reproductive risk counseling was highlighted.

Areerat Hnoonual, Dhipsukon Pongborriboon, Nattaphon Wansom et al. · 0 citations
Review Open access Sep 2026

Expanding the Clinical Spectrum of DHX30-Related Neurodevelopmental Disorder: A Case Report and a Scoping Review.

This study potentially expands the phenotypic spectrum of DHX30-NDD, highlights the clinical utility of WES for diagnosing GDD and underscores the importance of ongoing WES reanalysis for evolving variant interpretation.

Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong-On et al. · 0 citations

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