Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one
dominant allele within the disease gene is sufficient to express the phenotype. Therefore …

Primary mitochondrial diseases (PMDs) are complex group of metabolic disorders caused
by genetically determined impairment of the mitochondrial oxidative phosphorylation …

Greater understanding of the molecular intricacies of acquired and hereditary hearing loss
has spurred considerable advances in inner ear gene therapy. While approaches like …

LIM homeodomain transcription factor 1‐alpha (LMX1a) is a neuronal lineage‐specific
transcription activator that plays an essential role during the development of midbrain …

Hearing loss is a common disease. More than 100 genes have been reported to be
associated with hereditary hearing loss. However, the distribution of these genes and their …

Genetic or congenital hearing loss still has no definitive cure. Among genes related to
genetic hearing loss, the potassium voltage-gated channel subfamily Q member 4 (KCNQ4) …

Cochlear implant (CI) enables verbal communication for patients with severeto-profound
hearing impairment. With a CI, the hearing sensation is produced by stimulating the cochlear …

This dissertation addresses the critical need for scalable variant interpretation in the
diagnosis of rare genetic diseases (RGDs) by developing and validating novel …

Background Noninvasive prenatal diagnosis (NIPD) has been proven available for non-
syndromic hearing loss (NSHL) in singleton pregnancies. However, previous research is …