Discovering the genetic basis of a Mendelian phenotype establishes a causal link between
genotype and phenotype, making possible carrier and population screening and direct …

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 …

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 …

Identification of Mendelian genes for neurodevelopmental disorders using exome
sequencing to study autosomal recessive (AR) consanguineous pedigrees has been highly …

Consanguineous Pakistani pedigrees segregating deafness have contributed decisively to
the discovery of 31 of the 68 genes associated with nonsyndromic autosomal recessive …

Structural variation includes a change in copy number, orientation, or location of a part of the
genome. Copy number variants (CNVs) are a common cause of genetic hearing loss …

Deafness is the most frequent sensory disorder. With over 90 genes and 110 loci causally
implicated in non‐syndromic hearing loss, it is phenotypically and genetically …

A modifier variant can abrogate the risk of a monogenic disorder. DFNM1 is a locus on
chromosome 1 encoding a dominant suppressor of human DFNB26 recessive, profound …

Hearing loss (HL) is a heterogenous trait with pathogenic variants in more than 200 genes
that have been discovered in studies involving small and large HL families. Over one-third of …