Alice S. Brooks

This paper identifies loss-of-function variants in ZFHX3 as a cause of syndromic intellectual disability and describes its role in chromatin remodeling and DNA methylation.

The paper identifies large copy number losses as contributors to Hirschsprung disease, specifically in HSCR-AAM patients, and validates four genes involved in enteric nervous system development.

The paper identifies a recurrent start codon mutation in UGP2 causing a severe epileptic encephalopathy, showing that isoform-specific expression loss of an essential gene can lead to disease.

The paper investigates genetic and environmental factors contributing to the co-occurrence of esophageal atresia and infantile hypertrophic pyloric stenosis, finding a significant association with a risk SNP but no clear single genetic cause.