Nan Wu

EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis

This study identifies EPHA4 signaling dysregulation as a contributor to idiopathic scoliosis by linking it to locomotion defects and CPG network disruption in zebrafish.

Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis

The paper identifies a novel SOX9 variant in the TAM domain linked to axial skeletal dysplasia and scoliosis, showing reduced protein stability and recapitulating human phenotypes in mice.

Integration of human organoids single-cell transcriptomic profiles and human genetics repurposes critical cell type-specific drug targets for severe COVID-19

The paper integrates human organoid scRNA-seq data with GWAS and gene-drug interaction data to identify cell type-specific drug targets for severe COVID-19.

Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of MAPK3 and its contribution to variable NDD phenotypes

The paper identifies MAPK3 as a driver gene in 16p11.2 deletion-associated neurodevelopmental disorders, showing haplotype-specific expression and cis-regulatory enhancer SNPs contribute to variable phenotypes.

Integrative Genomics Analysis Reveals a Novel 21q22.11 Locus Contributing to Susceptibility of COVID-19

The paper identifies a novel 21q22.11 locus associated with COVID-19 susceptibility through GWAS and integrates eQTL data to show gene expression effects in lung tissue.

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

The paper investigates how different FBN1 truncating mutations cause distinct clinical phenotypes in Marfan syndrome and Marfanoid-progeroid-lipodystrophy syndrome through molecular and genetic analysis.