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Author

Weiying Jiang

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2 papers indexed here

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Case report Sep 2026

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

The proband has harbored a complex balanced translocation involving four non-homologous chromosomes in a Chinese pedigree using optical genomic mapping (OGM), which has demonstrated certain advantages in characterization of complex chromosomal structural abnormalities.

Yi-Juan Huang, Yuan-Qiu Chen, Shao-Bin Lin et al. · 0 citations
Open access Jul 2026

Biallelic variants in IBA57 with multiple mitochondrial dysfunction syndrome 3

The compound heterozygous IBA57 mutations c.310G>T and c.826C>T lead to reduced IBA57 protein expression, selective impairment of respiratory chain complex II, and transcriptional dysregulation of the PI3K-Akt pathway, together contributing to the MMDS3 phenotype in the proband and the affected fetus.

Yi-Juan Huang, Chen-Yu Gou, Yuan-Qiu Chen et al. · 0 citations

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