Qiwei Guo

This paper develops a nanopore sequencing assay for FXS carrier screening, showing it can detect CGG repeat variations in reference and clinical samples with high accuracy.

This study reports a novel SERPINE1-FOSB fusion gene in pseudomyogenic hemangioendothelioma that activates the PI3K-AKT-mTOR pathway and responds to sirolimus treatment.

This study reports carrier screening and prenatal diagnosis results for Fragile X Syndrome in East Asian populations, finding carrier prevalence and full mutation incidence rates and validating genetic thresholds.

The paper develops PCR-based assays to rapidly and efficiently identify Klinefelter syndrome mouse models by detecting Sry, Amelx copy number, and Xist RNA levels.

This study uses single-cell transcriptomics to analyze gene expression changes in trisomy 18 samples, identifying altered cell groups and new critical regions associated with the syndrome.