Yun Yang

Impact of ultrasonography on identifying noninvasive prenatal screening false-negative aneuploidy

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

Noninvasive prenatal diagnosis for Hemophilia A by haplotype-based approach using cell-free fetal DNA in maternal plasma

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

Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy Based on the Direct Haplotype Phasing

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

Succinylation Links Metabolic Reductions to Amyloid and Tau Pathology

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.

Pre-implantation genetic diagnosis for a family with Usher syndrome through targeted sequencing and haplotype analysis

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.