Robert W. Eppsteiner
University of Iowa Hospitals and Clinics
15 Papers
23 Citations
Robert W. Eppsteiner is an academic researcher from University of Iowa Hospitals and Clinics. The author has contributed to research in topics: Genetic testing & Hearing loss. The author has an hindex of 12, co-authored 15 publications. Previous affiliations of Robert W. Eppsteiner include University of Iowa & Roy J. and Lucille A. Carver College of Medicine.
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Papers
Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants
A. Eliot Shearer,Robert W. Eppsteiner,Kevin T. Booth,Sean S. Ephraim,Jose Gurrola,Allen C. Simpson,E. Ann Black-Ziegelbein,Swati Joshi,Harini Ravi,A. Giuffre,Scott Happe,Michael S. Hildebrand,Hela Azaiez,Yıldırım Ahmet Bayazıt,Mehmet Emin Erdal,Jose A. Lopez-Escamez,Irene Gazquez,Marta L. Tamayo,Nancy Gelvez,Greizy López Leal,Chaim Jalas,Josef Ekstein,Tao Yang,Shin-ichi Usami,Kimia Kahrizi,Niloofar Bazazzadegan,Hossein Najmabadi,Todd E. Scheetz,Terry A. Braun,Thomas L. Casavant,Emily M LeProust,Richard J.H. Smith,Richard J.H. Smith +32 more
TL;DR: Evaluation of reported pathogenic deafness variants using variant MAFs from multiple distinct ethnicities and sequenced by orthogonal methods provides a powerful filter for determining pathogenicity, and proposed MAF thresholds will facilitate clinical interpretation of variants identified in genetic testing for NSHL.
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Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.
Robert W. Eppsteiner,A. Eliot Shearer,A. Eliot Shearer,Michael S. Hildebrand,Adam P. DeLuca,Haihong Ji,Camille C. Dunn,Elizabeth A. Black-Ziegelbein,Thomas L. Casavant,Terry A. Braun,Todd E. Scheetz,Todd E. Scheetz,Steven E. Scherer,Marlan R. Hansen,Bruce J. Gantz,Richard J.H. Smith,Richard J.H. Smith,Richard J.H. Smith +17 more
TL;DR: The data suggest that genetic testing should be implemented as part of the CI evaluation to test the underlying hypothesis that mutations in genes preferentially expressed in the spiral ganglion portend poor cochlear implant performance while mutations in gene expressed inThe membranous labyrinth portend good CI performance.
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Advancing genetic testing for deafness with genomic technology
A. Eliot Shearer,E. Ann Black-Ziegelbein,Michael S. Hildebrand,Michael S. Hildebrand,Robert W. Eppsteiner,Harini Ravi,Swati Joshi,Angelica C Guiffre,Christina M. Sloan,Christina M. Sloan,Scott Happe,Susanna D Howard,Barbara Novak,Adam P. DeLuca,Kyle R. Taylor,Todd E. Scheetz,Terry A. Braun,Thomas L. Casavant,William J Kimberling,Emily M LeProust,Emily M LeProust,Richard J.H. Smith,Richard J.H. Smith +22 more
TL;DR: The overall diagnostic rate was 42%, but this varied by clinical features from 0% for persons with asymmetric hearing loss to 56% for Persons with bilateral autosomal recessive NSHL, which highlights the need for further research on genetic deafness focused on novel gene identification and an improved understanding of the role of non-exonic mutations.
High Volume and Outcome After Liver Resection: Surgeon or Center?
TL;DR: A socioeconomic bias may exist at high volume (HV) hospitals, where patients were more often older, white, private insurance holders, elective admissions, carriers of a malignant diagnosis, and high income residents, and center volume does not appear to influence in-hospital mortality unless LR is performed by HV surgeons at HV centers.
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Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance.
A. Eliot Shearer,Robert W. Eppsteiner,Kathy L. Frees,Viral D. Tejani,Christina M. Sloan-Heggen,Carolyn J. Brown,Carolyn J. Brown,Paul J. Abbas,Paul J. Abbas,Camille C. Dunn,Marlan R. Hansen,Bruce J. Gantz,Richard J.H. Smith,Richard J.H. Smith +13 more
TL;DR: It is shown that adult CI users with deleterious mutations that affect the spiral ganglion perform significantly worse on speech recognition testing, which should serve as a guide for further research into the molecular physiology of the peripheral auditory system and cochlear implants.
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