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A. Eliot Shearer
Researcher at Roy J. and Lucille A. Carver College of Medicine
Publications - 52
Citations - 3162
A. Eliot Shearer is an academic researcher from Roy J. and Lucille A. Carver College of Medicine. The author has contributed to research in topics: Hearing loss & Genetic testing. The author has an hindex of 26, co-authored 47 publications receiving 2589 citations. Previous affiliations of A. Eliot Shearer include University of Iowa Hospitals and Clinics & Boston Children's Hospital.
Papers
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Journal ArticleDOI
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
Christina M. Sloan-Heggen,Amanda O. Bierer,A. Eliot Shearer,Diana L. Kolbe,Carla Nishimura,Kathy L. Frees,Sean S. Ephraim,Seiji B. Shibata,Kevin T. Booth,Colleen A. Campbell,Paul T. Ranum,Amy E. Weaver,E. Ann Black-Ziegelbein,Donghong Wang,Hela Azaiez,Richard J.H. Smith,Richard J.H. Smith +16 more
TL;DR: Findings support the more efficient utilization of medical resources through the development of evidence-based algorithms for the diagnosis of hearing loss through targeted genomic enrichment and massively parallel sequencing.
Journal ArticleDOI
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing
A. Eliot Shearer,Adam P. DeLuca,Michael S. Hildebrand,Kyle R. Taylor,Jose Gurrola,Stephen W. Scherer,Todd E. Scheetz,Richard J.H. Smith +7 more
TL;DR: Assessment of the feasibility of target-enrichment and massively parallel sequencing technologies to interrogate all exons of all genes implicated in NSHL found them to provide sensitivity, specificity, and reproducibility at levels sufficient to perform genetic diagnosis of hearing loss.
Journal ArticleDOI
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
William J. Kimberling,William J. Kimberling,Michael S. Hildebrand,A. Eliot Shearer,Maren Jensen,Jennifer A Halder,Karmen M Trzupek,Edward S. Cohn,Richard G. Weleber,Edwin M. Stone,Richard J.H. Smith +10 more
TL;DR: The results demonstrate that DNA testing for Usher syndrome is feasible and may be a useful addition to newborn hearing screening programs.
Journal ArticleDOI
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Hela Azaiez,Kevin T. Booth,Sean S. Ephraim,Bradley Crone,Elizabeth A. Black-Ziegelbein,Robert J. Marini,A. Eliot Shearer,Christina M. Sloan-Heggen,Diana L. Kolbe,Thomas L. Casavant,Michael J. Schnieders,Carla Nishimura,Terry A. Braun,Richard J.H. Smith +13 more
TL;DR: The Deafness Variation Database is developed, a comprehensive, open-access resource that integrates all available genetic, genomic, and clinical data together with expert curation to generate a single classification for each variant in 152 genes implicated in syndromic and non-syndromic deafness.
Deafness and Hereditary Hearing Loss Overview
TL;DR: Hereditary hearing loss is managed by a team including an otolaryngologist, an audiologist, a clinical geneticist, a pediatrician, and sometimes an educator of the Deaf, a neurologist, and a pediatric ophthalmologist.