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Author

Hai-Bo Li

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Open access Jul 2026

Diagnostic evaluation and clinical utility of C-MoKa for prenatal genetic testing.

Evaluated diagnostic performance and clinical utility of C-MoKa in prenatal diagnosis and its technical concordance with standard of care testings in prenatal diagnosis demonstrate that C-MoKa is a highly effective and reliable method for prenatal diagnosis, exhibiting high concordance with SOC techniques.

Ying Zhou, Min Xie, L. Tian et al. · 0 citations
Jul 2026

A Multi-Center Integrative Cohort Characterizing the Genetic, Clinical, and Transcriptomic Features of ACP5 Deficiency.

An upregulated interferon signature was revealed, and monocytes were identified as a major cellular source of inflammation in patients with SPENCDI, expanding the genetic and clinical spectrum of ACP5 deficiency.

Shiling Zhong, Shuang-Yue Ma, Y. El Chazli et al. · 0 citations

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