Kevin T. A. Booth

This study delivers GJB2 specifically to target cells in mouse models of DFNB1 deafness, restoring hearing function and validating the approach in nonhuman primates.

This paper shows that a gene therapy using a shortened PCDH15 variant rescues vision in a zebrafish model of Usher Syndrome Type 1F.

This study identifies de novo ATP5F1A variants causing neurological disorders through dominant negative mechanisms, expanding the known phenotypic and genotypic spectrum of complex V deficiency.

The paper shows that the auditory midbrain encodes high-frequency mechanical vibrations detected by Pacinian corpuscles, enabling behavioral responses to tactile vibrations.

This paper demonstrates a dual-AAV gene therapy strategy for USH1F, restoring hearing, balance, and retinal function in mouse and human models.

The paper identifies de novo and inherited variants in DDX39B causing a syndrome with neurodevelopmental delay, short stature, and hypotonia, supported by molecular modeling and functional studies in Drosophila.

The paper curates 157 variants in hearing loss genes using disease-specific ACMG/AMP guidelines, resolving 69% of discordant variants and 24% of VUS variants into clear classifications.

This study identifies biallelic mutations in CLRN2 as a cause of non-syndromic hearing loss through genetic analysis of a consanguineous family and functional validation in zebrafish and mouse models.

The paper identifies four novel pathogenic variants in COCH causing autosomal recessive nonsyndromic hearing loss and shows non-truncating variants affect RNA-splicing.

The paper resolves the classification of two GJB2 variants as pathogenic for autosomal recessive nonsyndromic hearing loss through expert consensus.

The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.

The paper specifies ACMG/AMP variant interpretation guidelines for genetic hearing loss, updating and validating rules through expert curation of 51 variants.