Mai Har Sham

This paper identifies 249 candidate genes for human craniofacial malformation by integrating GWAS variants with epigenomic and single-cell transcriptomic data using machine learning.

This study shows that Irx3/5 genes are critical for patterning vestibular and cochlear sensory domains in the mammalian inner ear, with their deletion causing structural and cellular abnormalities in the cochlea.

MQuad identifies clonally informative mitochondrial variants from single-cell sequencing data with high sensitivity and specificity, outperforming existing methods.

This study identifies PAM-1, a long non-coding RNA that regulates skeletal muscle satellite cell activation and aging by trans-regulating Timp2 expression with Ddx5.