Cochlear implantation has become the standard‐of‐care for adults and children with severe
to profound hearing loss. There is growing evidence that qualitative as well as quantitative …

This issue of Seminars in Medical Genetics, American Journal of Medical Genetics Part C
investigates the human diseases caused by mutations in the BAF complex (also known as …

Inhibitory synapses dampen neuronal activity through postsynaptic hyperpolarization. The
composition of the inhibitory postsynapse and the mechanistic basis of its regulation …

Objective: To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
Methods: We acquired new clinical, EEG, and neuroimaging data of 11 previously …

From the first identified non-syndromic hearing loss gene in 1995, to those discovered in
present day, the field of human genetics has witnessed an unparalleled revolution that …

Epigenetic integrity is critical for many eukaryotic cellular processes. An important question
is how different epigenetic regulators control development and influence disease. Lysine …

Hereditary hearing loss is extremely heterogeneous. Over 70 genes have been identified to
date, and with the advent of massively parallel sequencing, the pace of novel gene …

Oxidative stress (OS) arises from an imbalance in the cellular redox state, which can lead to
intracellular damage and ultimately cell death. OS occurs as a result of normal ageing, but it …

Widespread utilization of small GTPases as major regulatory hubs in many different
biological systems derives from a conserved conformational switch mechanism that …

Genetic hearing loss crosses almost all the categories of hearing loss which includes the
following: conductive, sensory, and neural; syndromic and nonsyndromic; congenital …