Jing Cheng

This study identifies HSD17B7 as critical for sensory hair cell function by regulating cholesterol synthesis, showing its role in auditory physiology and hearing loss.

RGnet identifies pathogenic variants in recessive disorders by analyzing genotype networks in a large cohort of hearing loss cases.

The paper introduces GDC, a database integrating genetic and genomic data to study hearing loss, identifying novel mutational hotspots and candidate genes.

The paper identifies TBX2 frameshift variants as the cause of autosomal-dominant hearing loss with incomplete nystagmus penetrance, validated through linkage analysis, sequencing, and mouse models.