Author

Bo-Ning Cao

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Open access Sep 2026

Functional Validation of a CC2D2A Non-Canonical Splice-Site Variant Supports Prenatal Molecular Testing in Joubert Syndrome

Background: Joubert syndrome (JS) is a genetically heterogeneous ciliopathy wherein non-canonical splice-site (NCSS) variants are frequently reported as variants of uncertain significance (VUS), complicating prenatal counseling. We aimed to clarify the clinical significance of an NCSS in CC2D2A through functional valid...

Fang Wang, Jia-Ying Zhang, Chao Lu et al. · Diagnostics · 0 citations

Open access Sep 2026

Multi-Omics Mendelian Randomization Maps Lipid-Related Brain Cell-Type Associations with Kidney Disease

Background: Cellular heterogeneity limits causal inference in complex diseases. We applied an established cell-type-stratified Mendelian randomization (csMR) framework, originally developed by Hao et al. (2024), to investigate whether lipid phenotypes affect kidney disease through distinct brain cell populations, exten...

Jia-Ni Deng, Bo-Ning Cao, Feng-Jie Zheng et al. · Genes · 0 citations