Alvaro Gallego‐Martinez

Different contribution of missense and loss-of-function variants to the genetic structure of familial and sporadic Meniere disease

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.

A rare haplotype of the GJD3 gene segregating in familial Meniere Disease interferes with connexin assembly

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

Ultrarare missense and frameshift variants in the TECTA gene may involve tectorial membrane in familial Meniere disease

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

Rare Variants in the OTOG Gene Are a Frequent Cause of Familial Meniere’s Disease

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

Excess of rare missense variants in hearing loss genes in sporadic Meniere disease

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