Amy M. Breman

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.

This study validates a noninvasive prenatal genetic test using single trophoblast analysis, showing high concordance with CVS/amniocentesis for aneuploidy and deletions/duplications.

This paper describes a method using amplicon-based sequencing to identify fetal cells and detect monogenic mutations in single circulating trophoblast cells for non-invasive prenatal testing.