Karen B. Avraham

The paper identifies a rare subpopulation of cochlear supporting cells that transdifferentiate into hair cells upon Notch inhibition, revealing epigenetic and transcriptional changes associated with this process.

The paper shows that XIRP2 facilitates repair of noise-induced damage to stereocilia F-actin cores in mouse auditory hair cells by enriching monomeric gamma-actin at damaged sites.

The paper identifies six variants in four genes associated with hearing loss in four South Indian families, highlighting genetic and phenotypic heterogeneity.

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 shows that shear forces and local repulsion drive the formation of the checkerboard pattern of hair cells in the mammalian inner ear.

This study investigates a homozygous frameshift variant in the COCH gene, showing it causes loss-of-function through reduced cochlin translation, impacting genetic counseling for carriers.

The paper identifies genetic causes of inherited hearing loss in the Israeli Jewish population, finding a novel deafness gene ATOH1 and demonstrating the effectiveness of targeted genomic sequencing.

The paper identifies and characterizes four lncRNAs in the mouse cochlea, showing their expression patterns and potential roles in inner ear function.

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.

The paper analyzes DNA methylation dynamics in the mouse auditory organ of Corti during development and maturation, identifying novel regulatory regions and candidate factors involved in inner ear development.