A Eliot Shearer: search on Z-Library

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1

Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance

Shearer, A. Eliot, Eppsteiner, Robert W., Frees, Kathy, Tejani, Viral, Sloan-Heggen, Christina M., Brown, Carolyn, Abbas, Paul, Dunn, Camille, Hansen, Marlan R., Gantz, Bruce J., Smith, Richard J.H.

Journal:

Hearing Research

Year:

2017

Language:

english

File:

PDF, 1.33 MB

english, 2017

2

A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

Shearer, A. Eliot, Shen, Jun, Amr, Sami, Morton, Cynthia C., Smith, Richard J.

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 711 KB

english, 2019

3

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family

A. Eliot Shearer, Michael S. Hildebrand, Catherine J. Bromhead, Kimia Kahrizi, Jennifer A. Webster, Batool Azadeh, William J. Kimberling, Ali Anousheh, Arash Nazeri, Dietrich Stephan, Hossein Najmabad

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 192 KB

english, 2009

4

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss

A. Eliot Shearer, Michael S. Hildebrand, Jennifer A. Webster, Kimia Kahrizi, Nicole C. Meyer, Khadijeh Jalalvand, Sanaz Arzhanginy, William J. Kimberling, Dietrich Stephan, Melanie Bahlo, Richard J. H

Journal:

The Laryngoscope

Year:

2009

Language:

english

File:

PDF, 679 KB

english, 2009

5

A novel mutation in COCH—implications for genotype-phenotype correlations in DFNA9 hearing loss

Michael S. Hildebrand, Luke Gandolfo, A. Eliot Shearer, Jennifer A. Webster, Maren Jensen, William J. Kimberling, Dietrich Stephan, Patrick L. M. Huygen, Richard J. H. Smith, Melanie Bahlo

Journal:

The Laryngoscope

Year:

2010

Language:

english

File:

PDF, 1.39 MB

english, 2010

6

Phylogeography and monophyly of the swordtail fish species Xiphophorus birchmanni (Cyprinodontiformes, Poeciliidae)

Carla Gutiérrez-Rodríguez, A. Eliot Shearer, Molly R. Morris, Kevin De Queiroz

Journal:

Zoologica Scripta

Year:

2008

Language:

english

File:

PDF, 205 KB

english, 2008

7

Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population

Zohreh Fattahi, A. Eliot Shearer, Mojgan Babanejad, Niloofar Bazazzadegan, Seyed Navid Almadani, Nooshin Nikzat, Khadijeh Jalalvand, Sanaz Arzhangi, Fatemehsadat Esteghamat, Rezvan Abtahi, Batool Azad

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 1009 KB

english, 2012

8

Deafness in the genomics era

A. Eliot Shearer, Michael S. Hildebrand, Christina M. Sloan, Richard J.H. Smith

Journal:

Hearing Research

Year:

2011

Language:

english

File:

PDF, 1.22 MB

english, 2011

9

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

Katherine R Smith, Catherine J Bromhead, Michael S Hildebrand, A Eliot Shearer, Paul J Lockhart, Hossein Najmabadi, Richard J Leventer, George McGillivray, David J Amor, Richard J Smith, Melanie Bahlo

Journal:

Year:

2011

Language:

english

File:

PDF, 335 KB

english, 2011

10

Prediction of cochlear implant performance by genetic mutation: The spiral ganglion hypothesis

Robert W. Eppsteiner, 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, Steven E

Journal:

Hearing Research

Year:

2012

Language:

english

File:

PDF, 412 KB

english, 2012

11

Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment

Shearer, A Eliot, Hildebrand, Michael S, Ravi, Harini, Joshi, Swati, Guiffre, Angelica C, Novak, Barbara, Happe, Scott, LeProust, Emily M, Smith, Richard JH

Journal:

Year:

2012

Language:

english

File:

PDF, 545 KB

english, 2012

12

Solution-based targeted genomic enrichment for precious DNA samples

Aiden Eliot Shearer, Michael S Hildebrand, Richard JH Smith

Journal:

BMC Biotechnology

Year:

2012

Language:

english

File:

PDF, 887 KB

english, 2012

13

TBC1D24 Mutation Causes Autosomal-Dominant Nonsyndromic Hearing Loss

Azaiez, Hela, Booth, Kevin T., Bu, Fengxiao, Huygen, Patrick, Shibata, Seiji B., Shearer, A. Eliot, Kolbe, Diana, Meyer, Nicole, Black-Ziegelbein, E. Ann, Smith, Richard J.H.

Journal:

Year:

2014

Language:

english

File:

PDF, 464 KB

english, 2014

14

Copy number variants are a common cause of non-syndromic hearing loss

A Eliot Shearer,Diana L Kolbe,Hela Azaiez,Christina M Sloan…

Journal:

Genome Medicine

Year:

2014

Language:

english

File:

PDF, 434 KB

english, 2014

15

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

Shearer, A. Eliot, Eppsteiner, Robert W., Booth, Kevin T., Ephraim, Sean S., Gurrola, José, Simpson, Allen, Black-Ziegelbein, E. Ann, Joshi, Swati, Ravi, Harini, Giuffre, Angelica C., Happe, Scott, Hi

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 710 KB

english, 2014

16

AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening

Taylor, Kyle R., DeLuca, Adam P., Shearer, A. Eliot, Hildebrand, Michael S., Black-Ziegelbein, E. Ann, Anand, V. Nikhil, Sloan, Christina M., Eppsteiner, Robert W., Scheetz, Todd E., Huygen, Patrick L

Journal:

Year:

2013

Language:

english

File:

PDF, 490 KB

english, 2013

17

Genetics

Shearer, A. Eliot, Smith, Richard J.H.

Journal:

Current Opinion in Pediatrics

Year:

2012

Language:

english

File:

PDF, 510 KB

english, 2012

18

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

Damiano, John A., Afawi, Zaid, Bahlo, Melanie, Mauermann, Monika, Misk, Adel, Arsov, Todor, Oliver, Karen L., Dahl, Hans-Henrik M., Shearer, A. Eliot, Smith, Richard J.H., Hall, Nathan E., Mahmood, Kh

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.01 MB

english, 2015

19

HOMER2, a Stereociliary Scaffolding Protein, Is Essential for Normal Hearing in Humans and Mice

Azaiez, Hela, Decker, Amanda R., Booth, Kevin T., Simpson, Allen C., Shearer, A. Eliot, Huygen, Patrick L. M., Bu, Fengxiao, Hildebrand, Michael S., Ranum, Paul T., Shibata, Seiji B., Turner, Ann, Zha

Journal:

Year:

2015

Language:

english

File:

PDF, 1003 KB

english, 2015

20

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

Kimberling, William J, Hildebrand, Michael S, Shearer, A Eliot, Jensen, Maren L, Halder, Jennifer A, Trzupek, Karmen, Cohn, Edward S, Weleber, Richard G, Stone, Edwin M, Smith, Richard J H

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 228 KB

english, 2010

21

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with α-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)

Jing Zheng, Katharine K. Miller, Tao Yang, Michael S. Hildebrand, A. Eliot Shearer, Adam P. DeLuca, Todd E. Scheetz, Jennifer Drummond, Steve E. Scherer, P. Kevin Legan, Richard J. Goodyear, Guy P. Ri

Journal:

Proceedings of the National Academy of Sciences

Year:

2011

Language:

english

File:

PDF, 1.61 MB

english, 2011

22

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

A. Eliot Shearer, Adam P. DeLuca, Michael S. Hildebrand, Kyle R. Taylor, José Gurrola II, Steve Scherer, Todd E. Scheetz, Richard J. H. Smith and Mary-Claire King

Journal:

Proceedings of the National Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 999 KB

english, 2010

23

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Sloan-Heggen, Christina M., Bierer, Amanda O., Shearer, A. Eliot, Kolbe, Diana L., Nishimura, Carla J., Frees, Kathy L., Ephraim, Sean S., Shibata, Seiji B., Booth, Kevin T., Campbell, Colleen A., Ran

Journal:

Year:

2016

Language:

english

File:

PDF, 529 KB

english, 2016

24

Use of the Teres Major Muscle in Chimeric Subscapular System Free Flaps for Head and Neck Reconstruction

Tomlinson, Andrew R., Jameson, Mark J., Pagedar, Nitin A., Schoeff, Stephen S., Shearer, A. Eliot, Boyd, Nathan H.

Journal:

JAMA Otolaryngologyâ - Head & Neck Surgery

Year:

2015

Language:

english

File:

PDF, 355 KB

english, 2015

25

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Hildebrand, Michael S., Tankard, Rick, Gazina, Elena V., Damiano, John A., Lawrence, Kate M., Dahl, Hans-Henrik M., Regan, Brigid M., Shearer, Aiden Eliot, Smith, Richard J. H., Marini, Carla, Guerrin

Journal:

Annals of Clinical and Translational Neurology

Year:

2015

Language:

english

File:

PDF, 363 KB

english, 2015

26

Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots

Shearer, A. Eliot, Frees, Kathy, Kolbe, Diana L., Smith, Richard J. H.

Journal:

Otolaryngology - Head and Neck Surgery

Year:

2018

Language:

english

File:

PDF, 208 KB

english, 2018

27

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

Azaiez, Hela, Booth, Kevin T., Ephraim, Sean S., Crone, Bradley, Black-Ziegelbein, Elizabeth A., Marini, Robert J., Shearer, A. Eliot, Sloan-Heggen, Christina M., Kolbe, Diana, Casavant, Thomas, Schni

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 3.54 MB

english, 2018

28

In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function

Shearer, A. Eliot, Tejani, Viral D., Brown, Carolyn J., Abbas, Paul J., Hansen, Marlan R., Gantz, Bruce J., Smith, Richard J. H.

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 3.09 MB

english, 2018

29

Adult type rhabdomyoma presenting as a parathyroid adenoma

Lee, John P., Blake Sullivan, Christopher, Bayon, Rodrigo, Shearer, A. Eliot, Robinson, Robert A.

Journal:

Year:

2018

Language:

english

File:

PDF, 811 KB

english, 2018

30

Massive Scalp Cylindromas Treated With Staged Resection and Split-Thickness Skin Grafting

Shearer, A. Eliot, Vidholia, Aditi, Jensen, Christopher S, Bayon, Rodrigo

Journal:

JAMA Otolaryngologyâ - Head & Neck Surgery

Year:

2019

Language:

english

File:

PDF, 998 KB

english, 2019

31

Correction: A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

Shearer, A. Eliot, Shen, Jun, Amr, Sami, Morton, Cynthia C., Smith, Richard J.

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 216 KB

english, 2019

32

A Practical Approach to Genetic Testing for Pediatric Hearing Loss

Shearer, A. Eliot, Kenna, Margaret

Journal:

Current Otorhinolaryngology Reports

Year:

2020

File:

PDF, 299 KB

2020

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