Alvaro Gallego‐Martinez

This study compares the genetic burden of missense and loss-of-function variants in familial and sporadic Meniere disease, finding divergent genetic architectures and shared enriched genes.

The paper identifies a rare GJD3 haplotype associated with familial Meniere Disease, showing it disrupts connexin assembly and affects inner ear function.

The paper identifies rare variants in the TECTA gene associated with familial Meniere disease and suggests their impact on tectorial membrane stability.

The paper identifies rare variants in the OTOG gene as a frequent cause of familial Meniere’s disease through exome sequencing and variant analysis.

This study identifies an excess of rare missense variants in SNHL genes in sporadic Meniere disease patients compared to controls.