Jose Antonio Lopez-Escamez

The paper identifies a rare TRIOBP variant associated with Meniere disease in individuals with occupational noise exposure.

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.

MDAtlas provides an open-access multiomics database for Meniere Disease, integrating genomic, transcriptomic, and epigenomic data to support research on disease mechanisms and biomarkers.

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 rare missense variants in OTOP2 and MYO7A genes in a South Korean Meniere disease cohort, suggesting their potential pathogenic roles.

The paper reports rare missense OTOG variants in a Brazilian MD patient, suggesting their potential role in MD pathophysiology through structural destabilization of Otogelin.

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.