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A. Eliot Shearer, MD, PhD
A. Eliot Shearer, MD, PhD
Dept of Otolaryngology, Boston Children's Hospital, Harvard Medical School
Verified email at childrens.harvard.edu - Homepage
Title
Cited by
Cited by
Year
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
4872016
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
3622010
Hereditary hearing loss and deafness overview
AE Shearer, MS Hildebrand, RJH Smith
2882017
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
2652010
Deafness and hereditary hearing loss overview
RJH Smith, AE Shearer, MS Hildebrand, G Van Camp
GeneReviews, 1993
2371993
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
2282018
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
1792014
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
1672014
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
1562015
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
1442011
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
1422012
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
1302011
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
1272013
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
1192014
Genetics: advances in genetic testing for deafness
AE Shearer, RJH Smith
Current opinion in pediatrics 24 (6), 679-686, 2012
1142012
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
1092014
Deafness in the Genomics Era
AE Shearer, MS Hildebrand, CM Sloan, RJH Smith
Hearing Research, 2011
982011
Auditory synaptopathy, auditory neuropathy, and cochlear implantation
AE Shearer, MR Hansen
Laryngoscope investigative otolaryngology 4 (4), 429-440, 2019
962019
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
95*2019
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
952017
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