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
Title
Cited by
Cited by
Year
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
3222010
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
2972016
Deafness and hereditary hearing loss overview
RJH Smith, AE Shearer, MS Hildebrand, G Van Camp
GeneReviews, 1993
2221993
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
2082010
Hereditary hearing loss and deafness overview
AE Shearer, MS Hildebrand, RJH Smith
GeneReviews®[Internet], 2017
1752017
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
1462014
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
1302014
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
1272011
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
1222015
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
1172018
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
1152011
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
1122013
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
1022012
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
1002014
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
992014
Genetics: advances in genetic testing for deafness
AE Shearer, RJH Smith
Current opinion in pediatrics 24 (6), 679, 2012
952012
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
922011
Deafness in the Genomics Era
AE Shearer, MS Hildebrand, CM Sloan, RJH Smith
Hearing Research, 2011
882011
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
792011
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
562012
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Articles 1–20