Author

Hong-Bing Shen

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Open access Aug 2026

Large-scale whole-genome sequencing reveals the landscape and health implications of de novo mutations.

Paternal and maternal aging exhibited distinct mutational patterns, with maternal DNM accumulation accelerating at advanced ages, and in vitro embryo manipulation was associated with increased early post-zygotic mosaic mutations, particularly C > A substitutions linked to delayed neurocognitive development at 1 year.

N. Qin, Jun-Cheng Dai, Yue Jiang et al. · Nature Medicine · 1 citation

Jul 2026

Functional noncoding variants within the TBX1 enhancer contribute to tetralogy of Fallot.

This study demonstrates the involvement of noncoding variants in the TBX1 enhancer in TOF pathogenesis, highlighting the feasibility of using organoids to decipher the underlying mechanisms of unconserved noncoding regions in developmental malformations.

Jimiao Gao, T. Jiang, Yingyi Quan et al. · Science China Life Sciences · 0 citations