Jennifer L. Cohen

The paper evaluates a reproductive genetic screening framework that includes genes with perinatal intervention potential, finding an individual-level number-needed-to-screen of 3.20 using gnomAD and 3.62 using All of Us.

This paper proposes a fetal actionable findings list for genomic sequencing in pregnancy to identify clinically relevant incidental variants.

The paper identifies cell-specific gene expression biases in excitatory neurons and microglia for pathogenic variants linked to speech/cognitive delay and seizures using single-nucleus RNA-seq data.

This study investigates associations between infant genetic diagnoses and pregnancy complications, finding elevated risks of gestational diabetes, preeclampsia, and placental disorders.