Key Publications

 
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Shearer, A.E., DeLuca, A.P., Hildebrand, M.S., Taylor, K.R., Gurrola, J., Scherer, S., Scheetz, T.E. and Smith, R.J., 2010. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proceedings of the National Academy of Sciences107(49), pp.21104-21109.

https://dx.doi.org/10.1073%2Fpnas.1012989107

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Shearer, A.E., Eppsteiner, R.W., Booth, K.T., Ephraim, S.S., Gurrola II, J., Simpson, A., Black-Ziegelbein, E.A., Joshi, S., Ravi, H., Giuffre, A.C. and Happe, S., 2014. Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. The American Journal of Human Genetics95(4), pp.445-453.

https://doi.org/10.1016/j.ajhg.2014.09.001

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Shearer, A.E., Shen, J., Amr, S., Morton, C.C. and Smith, R.J., 2019. A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children. Genetics in Medicine21(11), pp.2614-2630.

https://doi.org/10.1038/s41436-019-0563-5