E. Ann Black-Ziegelbein

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

Christina Sloan-Heggen, Amanda O. Bierer, A. Eliot Shearer et al. · Human Genetics · 2016 · 568 citations · Full text

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

Héla Azaiez, Kevin T. Booth, Sean S. Ephraim et al. · The American Journal of Human Genetics · 2018 · 308 citations · Full text

Genetic Variants, Allelic Variant, Genomic Landscape +15

Copy number variants are a common cause of non-syndromic hearing loss

Andrew Shearer, Diana L. Kolbe, Héla Azaiez et al. · Genome Medicine · 2014 · 190 citations · Full text

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

A. Eliot Shearer, Robert W. Eppsteiner, Kevin T. Booth et al. · The American Journal of Human Genetics · 2014 · 151 citations · Full text

Allelic Variant, Variant Interpretation, Ethnic-specific Differences +9