Sally J. Dawson

This study analyzes genetic causes of syndromic and non-syndromic hearing loss in 5,488 individuals from the 100,000 Genomes Project, identifying 273 genes and a 27.5% diagnostic yield.

This paper identifies KLHDC7B as a gene associated with age-related hearing loss in humans and validates its role in hearing maintenance using two mouse models.

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

This study shows that Caprin1 deletion in mice causes progressive hearing loss and impairs recovery from noise-induced hearing loss.

This study identifies genetic variants near RCOR1 associated with tinnitus in UK Biobank, suggesting a potential role for RCOR1 in tinnitus pathogenesis.