Lisa A. Schimmenti

The paper reports a cohort of 17 patients with pathogenic KCNH5 variants causing neurodevelopmental disorders and epilepsy, identifying genotype-phenotype correlations.

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.

The paper identifies differences in hair cell biology and behavior in zebrafish myo7aa-/- mutants and shows that L-type voltage-gated calcium channel agonists can rescue these phenotypes.

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

The paper describes a zebrafish gene break transposon library for genomic discovery and disease modeling, identifying novel gene expression patterns and generating models for human disease loci.

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.