Human Genetics· 2016Q1

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Christina Sloan-Heggen, Amanda O. Bierer, A. Eliot Shearer, Diana L. Kolbe et al.

595citations
Q1SCImago
2016year

Short summary

Comprehensive genetic testing identified the underlying genetic cause of hearing loss in 39% (440/1119) of patients, revealing pathogenic variants in 49 genes.

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Field: Sensory Systems

Sensory SystemsNeuroscience