Florence Petit

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 variant-specific effects of AFF3 on transcriptome profiles through analysis of patient cohorts and zebrafish models, showing distinct pathophysiological mechanisms for different types of AFF3 variants.

The paper identifies missense variants in PLS3 causing X-linked congenital diaphragmatic hernia and body wall defects through genetic analysis and functional studies.

The paper identifies two Lmx1b cis-regulatory modules critical for limb development and shows their disruption in NPS patients with normal coding sequence.

The paper analyzes TAD boundary deletions in the general population and finds that most TADs are not disrupted, with only a subgroup showing enrichment in disease genes.