Lu Qiao

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

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

Identification and validation of novel candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas

The paper identifies novel risk genes associated with EA/TEF through whole genome sequencing and functional validation using CRISPR-Cas9 in Xenopus.

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 and ALYREF as new candidate risk genes

The paper identifies LONP1 and ALYREF as new candidate risk genes for congenital diaphragmatic hernia through de novo and ultra-rare variant analyses in proband-parent trios and population controls.