Lauren E. Fries

This study identifies ADAMTS7's role in promoting atherosclerosis by enhancing smooth muscle cell foam cell formation via an AP-1/PU.1/CD36 pathway.

The paper uses scRNA-seq to study adventitial fibroblast changes in mouse atherosclerosis and identifies SERPINH1 as a key regulator affecting fibroblast function.

The paper assesses the functional impact of RET pathogenic variants in Hirschsprung disease by analyzing their effects on cell proliferation and migration in a neural crest-derived cell line.

The paper investigates how a non-coding variant in a RET enhancer and a coding null allele together cause loss of inhibitory motor neurons in the enteric nervous system, leading to Hirschsprung disease.

The paper shows RET enhancer variants reduce gene expression and alter the fetal gut development program, potentially causing Hirschsprung disease through effects on neural crest cell proliferation.

The paper identifies 31 HSCR-associated variants in RET CREs, ten with differential enhancer activity and seven affecting RET expression, revealing an extensive regulatory code modulating HSCR risk.

Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.