Ignatia B. Van den Veyver

This paper curates human essential genes based on lethality in Mendelian disorders and explores their relationships with constraint metrics and viability data.

The paper identifies novel Mendelian genes by analyzing mouse embryo lethality and linking them to human disease phenotypes and genetic variants.

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.