Xiang Chen

GWAS of ~30,000 samples with bone mineral density at multiple skeletal sites and its clinical relevance on fracture prediction, genetic correlations and prioritization of drug targets

This study performs GWAS on BMD traits and fracture risk using 30,000 UK Biobank samples, identifies novel loci, and prioritizes drug targets for osteoporosis prevention.

SEAD: an augmented reference panel with 22,134 haplotypes boosts the rare variants imputation and GWAS analysis in Asian population

The paper introduces SEAD, an Asian reference panel that improves rare variant imputation and GWAS analysis, identifying a novel association between SNTG1 and hip BMD.

A novel nonsense mutation c.424G>T (p. G142X) in the first exon of XLas leading to osteopetrosis

The paper reports a novel nonsense mutation in XLas causing osteopetrosis and high bone mass by disrupting the skeletal response to parathyroid hormone.