Alba Escalera‐Balsera

The paper identifies rare PRKRA variants in individuals with tinnitus and mild cognitive impairment, linking them to early cognitive decline and suggesting a potential role in disease mechanisms.

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.