Aiden Eliot Shearer

This study analyzes the genomic prevalence of Usher syndrome using large databases, identifying key therapeutic targets and estimating population impact.

This study evaluates the diagnostic yield of long-read sequencing in pediatric sensorineural hearing loss, finding it detects structural variants missed by short-read sequencing.

This study identifies PKHD1L1 as a cause of autosomal recessive nonsyndromic hearing loss through exome sequencing and functional analysis in human families and animal models.