|Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing|
AE Shearer, AP DeLuca, MS Hildebrand, KR Taylor, J Gurrola, S Scherer, ...
Proceedings of the National Academy of Sciences 107 (49), 21104, 2010
|Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss|
CM Sloan-Heggen, AO Bierer, AE Shearer, DL Kolbe, CJ Nishimura, ...
Human genetics 135 (4), 441-450, 2016
|Deafness and hereditary hearing loss overview|
RJH Smith, AE Shearer, MS Hildebrand, G Van Camp
|Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children|
WJ Kimberling, MS Hildebrand, AE Shearer, ML Jensen, JA Halder, ...
Genetics in Medicine 12 (8), 512-516, 2010
|Hereditary hearing loss and deafness overview|
AE Shearer, MS Hildebrand, RJH Smith
|Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants|
AE Shearer, RW Eppsteiner, KT Booth, SS Ephraim, J Gurrola II, ...
The American Journal of Human Genetics 95 (4), 445-453, 2014
|Copy number variants are a common cause of non-syndromic hearing loss|
AE Shearer, DL Kolbe, H Azaiez, CM Sloan, KL Frees, AE Weaver, ...
Genome medicine 6 (5), 1-10, 2014
|Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with α-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)|
J Zheng, KK Miller, T Yang, MS Hildebrand, AE Shearer, AP DeLuca, ...
Proceedings of the National Academy of Sciences 108 (10), 4218, 2011
|Massively parallel sequencing for genetic diagnosis of hearing loss: the new standard of care|
AE Shearer, RJH Smith
Otolaryngology–Head and Neck Surgery 153 (2), 175-182, 2015
|Genomic landscape and mutational signatures of deafness-associated genes|
H Azaiez, KT Booth, SS Ephraim, B Crone, EA Black-Ziegelbein, ...
The American Journal of Human Genetics 103 (4), 484-497, 2018
|Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42|
G Borck, AU Rehman, K Lee, HM Pogoda, N Kakar, S von Ameln, N Grillet, ...
The American Journal of Human Genetics, 2011
|Advancing genetic testing for deafness with genomic technology|
AE Shearer, EA Black-Ziegelbein, MS Hildebrand, RW Eppsteiner, H Ravi, ...
Journal of medical genetics 50 (9), 627-634, 2013
|Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis|
RW Eppsteiner, AE Shearer, MS Hildebrand, AP DeLuca, H Ji, CC Dunn, ...
Hearing research 292 (1-2), 51-58, 2012
|An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge|
CA Brownstein, AH Beggs, N Homer, B Merriman, WY Timothy, ...
Genome biology 15 (3), 1-18, 2014
|TBC1D24 Mutation Causes Autosomal‐Dominant Nonsyndromic Hearing Loss|
H Azaiez, KT Booth, F Bu, P Huygen, SB Shibata, AE Shearer, D Kolbe, ...
Human mutation 35 (7), 819-823, 2014
|Genetics: advances in genetic testing for deafness|
AE Shearer, RJH Smith
Current opinion in pediatrics 24 (6), 679, 2012
|Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes|
KR Smith, CJ Bromhead, MS Hildebrand, AE Shearer, PJ Lockhart, ...
Genome biology 12 (9), 1-9, 2011
|Deafness in the Genomics Era|
AE Shearer, MS Hildebrand, CM Sloan, RJH Smith
Hearing Research, 2011
|DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss|
MS Hildebrand, M Morín, NC Meyer, F Mayo, S Modamio‐Hoybjor, ...
Human mutation 32 (7), 825-834, 2011
|Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population|
Z Fattahi, AE Shearer, M Babanejad, N Bazazzadegan, SN Almadani, ...
American Journal of Medical Genetics Part A 158 (8), 1857-1864, 2012