One goal of genomic medicine is to uncover an individual's genetic risk for disease, which
generally requires data connecting genotype to phenotype, as done in genome-wide …

Etiological studies have shown genetic disorders to be a major cause of sensorineural
hearing loss, but there are a limited number of comprehensive etiological reports based on …

Early intervention for newborns who are deaf or hard-of-hearing leads to improved
language, communication, and social–emotional outcomes. Universal physiologic newborn …

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

Abstract Branchio-oto-renal (BOR)/branchio-otic (BO) syndrome is a rare disorder and
exhibits clinically heterogenous phenotypes, marked by abnormalities in the ear, branchial …

Hereditary hearing loss is both clinically and genetically very heterogeneous. Despite the
large number of genes that have been associated with the condition, many cases remain …

Understanding racial and ethnic disparities in diagnostic rates of genetic testing is critical for
health equity. We sought to understand the extent and cause of racial and ethnic disparities …

There are multiple etiologies and phenotypes of age-related hearing loss or presbyacusis. In
this review we summarize findings from animal and human studies of presbyacusis …

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

Returning incidental findings in African genomics research | Nature Genetics Skip to main
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