Progress in deciphering the genetic architecture of human sensorineural hearing
impairment (SNHI) or loss, and multidisciplinary studies of mouse models, have led to the …

Mechanosensory hair bundles are assembled from actin-based stereocilia that project from
the apical surface of hair cells in the inner ear. Stereocilia architecture is critical for the …

Etiological studies have shown genetic disorders to be a major cause of sensorineural
hearing loss, but there are a limited number of comprehensive etiological reports based on …

Importance In the US, most childhood-onset bilateral sensorineural hearing loss is genetic,
with more than 120 genes and thousands of different alleles known. Primary treatments are …

Background Most patients with childhood-onset immune dysregulation, polyendocrinopathy,
and enteropathy have no genetic diagnosis for their illness. These patients may undergo …

Inner ear hair cells assemble mechanosensitive hair bundles on their apical surface that
transduce sounds and accelerations. Each hair bundle is comprised of∼ 100 individual …

Objectives Genetic testing is the standard‐of‐care for diagnostic evaluation of bilateral,
symmetric, sensorineural hearing loss (HL). We sought to determine the efficacy of a …

PARP inhibitor (PARPi) therapy has transformed outcomes for patients with homologous
recombination DNA repair (HRR) deficient ovarian cancers, for example those with BRCA1 …

Deaf and hard of hearing children are at risk of exclusion from community life and education,
which may increase their risk of mental health conditions. This study explores the …

Hereditary hearing loss is genetically heterogeneous, with diverse clinical manifestations.
Here we performed targeted genome sequencing of 227 hearing loss related genes in 1027 …