Author

Jianbo Shu

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Case report Open access Sep 2026

Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases

Our study investigates the impact of junction breakpoints of complex chromosomal rearrangements (CCRs) on developmental delay and intermittent epilepsy in children, aiming to elucidate the underlying genetic mechanisms.

Jia-Ci Li, W. Fan, Nan Liu et al. · Molecular Genetics & Genomic... · 0 citations

Open access Aug 2026

Exploratory bioinformatics analysis for identifying candidate biomarkers of type 1 diabetes mellitus

Results indicate that CTSG and LTF may serve as promising diagnostic biomarkers for T1DM, and functional enrichment analysis showed that immune activation played an important role in T1DM.

Jia-Ci Li, Shu-Yue Zhang, Xue-Tao Wang et al. · PeerJ · 0 citations

Jul 2026

Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation

This study represents the first application of a Drosophila model to demonstrate that KCNK3 functions as a dosage-sensitive regulator of neurodevelopment and position KCNK3 as a candidate gene for molecular screening and pave the way for future functional studies and therapeutic exploration in NDDs.

Yuanyuan Sun, Leyi Wang, Li-Wei Zhang et al. · Clinical Genetics · 0 citations