Objective To evaluate the use of new genetic sequencing techniques for comprehensive
genetic testing for hearing loss. Data Sources Articles were identified from PubMed and …

Objective: To describe the genetic and phenotypic spectrum of Usher syndrome after 6 years
of studies by next-generation sequencing, and propose an up-to-date classification of Usher …

Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns.
Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been …

Purpose: Next-generation sequencing–based methods are being adopted broadly for
genetic diagnostic testing, but the performance characteristics of these techniques with …

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 …

Ethnic-specific differences in minor allele frequency impact variant categorization for genetic
screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to …

Hearing loss is the most common sensory deficit in humans with causative variants in over
140 genes. With few exceptions, however, the population-specific distribution for many of the …

Background Sensorineural hearing loss (SNHL) is the most common sensory impairment.
Comprehensive next-generation sequencing (NGS) has become the standard for the …

Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling
and molecular diagnosis. Testing of several single HI-related genes is laborious and …

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