More than 50 percent of prelingual hearing loss is genetic in origin, and of these up to 93
percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be …

Congenital hearing loss affects one in 500 newborns. Sequence variations in OTOF, which
encodes the calcium-binding protein otoferlin, are responsible for 1–8% of congenital …

Massively parallel sequencing of targeted regions, exomes, and complete genomes has
begun to dramatically increase the pace of discovery of genes responsible for human …

Abstract Background Copy number variants (CNVs) are a well-recognized cause of genetic
disease; however, methods for their identification are often gene-specific, excluded as …

Background Identification of genes responsible for medically important traits is a major
challenge in human genetics. Due to the genetic heterogeneity of hearing loss, targeted …

Background Countries with culturally accepted consanguinity provide a unique resource for
the study of rare recessively inherited genetic diseases. Although hereditary hearing loss …

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 …

Deafness in humans is a common neurosensory disorder and is genetically heterogeneous.
Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be the …

Non-specific intellectual disability of autosomal recessive inheritance (NS-ARID) represents
an important fraction of severe cognitive dysfunction disorders. To date, only 10 genes have …

The genetic characterization of a common phenotype for an entire population reveals both
the causes of that phenotype for that place and the power of family-based, population-wide …