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Author

Dan-Hua Li

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Open access Sep 2026

Long-read sequencing resolves complex CYP21A2 variants and identifies 2+0 carriers in 21-hydroxylase deficiency.

Long-read sequencing (LRS) provides a superior, integrated solution for the molecular diagnosis of 21-OHD, offering precise structural variant characterization, accurate carrier detection, and reliable breakpoint mapping.

Yan-Jie Xia, Di Cui, Dan-Hua Li et al. · 0 citations
Open access Aug 2026

Improving molecular diagnosis of fabry disease: functional validation of novel splicing variants in GLA

The findings highlight the critical role of robust functional splicing assays in interpreting variant pathogenicity, establishing accurate genotype-phenotype correlations, and ultimately facilitating precision medicine for FD.

Jingwen Zhou, Ai-Ping Mao, Jie Feng et al. · 0 citations

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