Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

Background: Thyroid diseases are the most common endocrine pathologies second to
diabetes. They have been shown to have high genetic impact, and variants in any of the …

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 …

Background Mutations in SLC26A4, which encodes pendrin, are a common cause of
deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic …

Background: Hearing loss (HL) is a heterogeneous condition that causes partial or complete
hearing impairment. Hundreds of variants in more than 60 genes have been reported to be …

Abstract Background The 2015 American College of Medical Genetics and Genomics
(ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence …

Thanks to the advent of rapid DNA sequencing technology and its prevalence, many
disease‐associated genetic variants are rapidly identified in many genes from patient …

Background To determine the carrier frequency and pathogenic variants of common genetic
disorders in the north Indian population by using next generation sequencing (NGS) …

Background The development of next generation sequencing-based techniques showed an
important progress in the identification of pathogenic variants related to monogenetic …

The prevalence and spectrum of sequence alterations in the SLC26A4 gene, which codes
for the anion exchanger pendrin, are population-specific and account for at least 50% of …