Andrew J. Griffith

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

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.

Potential therapy for progressive vision loss due to PCDH15-associated Usher syndrome developed in an orthologous Usher mouse

The paper describes a potential therapy for PCDH15-associated Usher syndrome using exogenous retinoids in a mouse model, showing improved ERG amplitudes.

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

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

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

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