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, 441-450, 2016 | 525 | 2016 |
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 | 381 | 2010 |
Hereditary hearing loss and deafness overview AE Shearer, MS Hildebrand, RJH Smith | 292 | 2017 |
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 | 280 | 2010 |
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 | 258 | 2018 |
Deafness and hereditary hearing loss overview RJH Smith, AE Shearer, MS Hildebrand, G Van Camp GeneReviews, 1993 | 239 | 1993 |
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, 1-10, 2014 | 194 | 2014 |
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants AE Shearer, RW Eppsteiner, KT Booth, SS Ephraim, J Gurrola, A Simpson, ... The American Journal of Human Genetics 95 (4), 445-453, 2014 | 170 | 2014 |
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 | 164 | 2015 |
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 | 148 | 2012 |
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 | 146 | 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 | 132 | 2013 |
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 | 130 | 2011 |
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, TW Yu, KC Flannery, ... Genome biology 15, 1-18, 2014 | 125 | 2014 |
Auditory synaptopathy, auditory neuropathy, and cochlear implantation AE Shearer, MR Hansen Laryngoscope investigative otolaryngology 4 (4), 429-440, 2019 | 117 | 2019 |
Genetics: advances in genetic testing for deafness AE Shearer, RJH Smith Current opinion in pediatrics 24 (6), 679-686, 2012 | 117 | 2012 |
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 | 111 | 2014 |
A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children AE Shearer, J Shen, S Amr, CC Morton, RJ Smith Genetics in Medicine 21 (11), 2614-2630, 2019 | 104* | 2019 |
Deafness in the Genomics Era AE Shearer, MS Hildebrand, CM Sloan, RJH Smith Hearing Research, 2011 | 101 | 2011 |
Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance AE Shearer, RW Eppsteiner, K Frees, V Tejani, CM Sloan-Heggen, ... Hearing research 348, 138-142, 2017 | 100 | 2017 |