Yun Yang

The paper evaluates how ultrasonography helps identify false-negative aneuploidy cases missed by noninvasive prenatal screening.

This study demonstrates a haplotype-based noninvasive prenatal diagnosis for Hemophilia A using cell-free fetal DNA, confirming results with amniocentesis.

This study validates a noninvasive prenatal diagnosis method for Duchenne Muscular Dystrophy using direct haplotype phasing from maternal DNA sequencing.

This study identifies lysine succinylation as a post-translational modification linked to amyloid and tau pathology in Alzheimer's disease through human brain and mouse model analyses.

This paper applies targeted sequencing and haplotype analysis to develop a PGD assay for Usher syndrome, resulting in a successful pregnancy with a healthy baby.