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244 results on '"Shearer, A. Eliot"'

5. Spiral Ganglion Neuron Regeneration in the Cochlea: Regeneration of Synapses, Axons, and Cells

Author

Green, Steven H., Bafti, Sepand, Gansemer, Benjamin M., Shearer, A. Eliot, Rahman, Muhammad Taifur, Warchol, Mark E., Hansen, Marlan R., Coffin, Allison B., Series Editor, Sisneros, Joseph, Series Editor, Avraham, Karen, Editorial Board Member, Popper, Arthur N., Founding Editor, Bass, Andrew, Editorial Board Member, Fay, Richard R., Founding Editor, Cunningham, Lisa, Editorial Board Member, Fritzsch, Bernd, Editorial Board Member, Groves, Andrew, Editorial Board Member, Hertzano, Ronna, Editorial Board Member, Le Prell, Colleen, Editorial Board Member, Litovsky, Ruth, Editorial Board Member, Manis, Paul, Editorial Board Member, Manley, Geoffrey, Editorial Board Member, Moore, Brian, Editorial Board Member, Simmons, Andrea, Editorial Board Member, Yost, William, Editorial Board Member, Warchol, Mark E., editor, and Stone, Jennifer S., editor

Published
2023
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11. Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

Author

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, Hildebrand, Michael S, Azaiez, Hela, Bayazit, Yildirim A, Erdal, Mehmet Emin, Lopez-Escamez, Jose A, Gazquez, Irene, Tamayo, Marta L, Gelvez, Nancy Y, Leal, Greizy Lopez, Jalas, Chaim, Ekstein, Josef, Yang, Tao, Usami, Shin-ichi, Kahrizi, Kimia, Bazazzadegan, Niloofar, Najmabadi, Hossein, Scheetz, Todd E, Braun, Terry A, Casavant, Thomas L, LeProust, Emily M, and Smith, Richard JH

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Case-Control Studies, Connexin 26, Connexins, Ethnicity, Evolution, Molecular, Exome, Gene Frequency, Genetic Variation, Genome, Human, Genome-Wide Association Study, Hearing Loss, Humans, Phylogeny, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Ethnic-specific differences in minor allele frequency impact variant categorization for genetic screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to evaluate all previously reported pathogenic NSHL variants in the context of a large number of controls from ethnically distinct populations sequenced with orthogonal massively parallel sequencing methods. We used HGMD, ClinVar, and dbSNP to generate a comprehensive list of reported pathogenic NSHL variants and re-evaluated these variants in the context of 8,595 individuals from 12 populations and 6 ethnically distinct major human evolutionary phylogenetic groups from three sources (Exome Variant Server, 1000 Genomes project, and a control set of individuals created for this study, the OtoDB). Of the 2,197 reported pathogenic deafness variants, 325 (14.8%) were present in at least one of the 8,595 controls, indicating a minor allele frequency (MAF) > 0.00006. MAFs ranged as high as 0.72, a level incompatible with pathogenicity for a fully penetrant disease like NSHL. Based on these data, we established MAF thresholds of 0.005 for autosomal-recessive variants (excluding specific variants in GJB2) and 0.0005 for autosomal-dominant variants. Using these thresholds, we recategorized 93 (4.2%) of reported pathogenic variants as benign. Our data show that 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. The proposed MAF thresholds will facilitate clinical interpretation of variants identified in genetic testing for NSHL. All data are publicly available to facilitate interpretation of genetic variants causing deafness.

Published
2014

13. PKHD1L1, A Gene Involved in the Stereociliary Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss

Author

Redfield, Shelby E., primary, De-la-Torre, Pedro, additional, Zamani, Mina, additional, Khan, Hina, additional, Morris, Tyler, additional, Shariati, Gholamreza, additional, Karimi, Majid, additional, Kenna, Margaret A., additional, Seo, Go Hun, additional, Naz, Sadaf, additional, Galehdari, Hamid, additional, Indzhykulian, Artur A., additional, Shearer, A. Eliot, additional, and Vona, Barbara, additional

Published
2023
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14. Deafness

Author

Shearer, A. Eliot, Eppsteiner, Robert W., Smith, Richard J. H., and Leonard, Debra G.B., editor

Published
2016
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22. Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

Author

Borck, Guntram, Rehman, Atteeq Ur, Lee, Kwanghyuk, Pogoda, Hans-Martin, Kakar, Naseebullah, von Ameln, Simon, Grillet, Nicolas, Hildebrand, Michael S., Ahmed, Zubair M., Nürnberg, Gudrun, Ansar, Muhammad, Basit, Sulman, Javed, Qamar, Morell, Robert J., Nasreen, Nabilah, Shearer, A. Eliot, Ahmad, Adeel, Kahrizi, Kimia, Shaikh, Rehan S., Ali, Rana A., Khan, Shaheen N., Goebel, Ingrid, Meyer, Nicole C., Kimberling, William J., Webster, Jennifer A., Stephan, Dietrich A., Schiller, Martin R., Bahlo, Melanie, Najmabadi, Hossein, Gillespie, Peter G., Nürnberg, Peter, Wollnik, Bernd, Riazuddin, Saima, Smith, Richard J.H., Ahmad, Wasim, Müller, Ulrich, Hammerschmidt, Matthias, Friedman, Thomas B., Riazuddin, Sheikh, Leal, Suzanne M., Ahmad, Jamil, and Kubisch, Christian

Published
2011
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23. Otolaryngologic Manifestations of Trisomy 13 and Trisomy 18 in Pediatric Patients.

Author

Benson, Jalen, Stewart, Candace, Kenna, Margaret A., and Shearer, A. Eliot

Abstract

Objective: The survival rate of patients with trisomy 13 and trisomy 18 has increased dramatically over the past two decades. We sought to comprehensively describe the otolaryngologic clinical characteristics and procedures required for these patients at our institution. Methods: We performed algorithmic identification of patients with a diagnosis of trisomy 13 and trisomy 18 for whom the otolaryngology service provided inpatient or outpatient care at our institution between the dates of February 1997 and March 2021. Results: Of the 47 patients studied, 18 patients had a diagnosis of trisomy 13, and 29 had a diagnosis of trisomy 18. Complete trisomy was present in 44% (8/18) of trisomy 13 patients and 55% (16/29) of trisomy 18 patients. 81% of patients were living at the time of the study. About 94% (44/47) of patients required consultation with another specialty in addition to Otolaryngology. Overall, the most common diagnoses among this cohort were gastroesophageal reflux disease (47%), dysphagia (40%), otitis media (38%), and obstructive sleep apnea (34%). Nearly three‐quarters (74%) of patients studied required an otolaryngologic procedure. The most common surgical procedure was tonsillectomy and/or adenoidectomy. Patients with trisomy 18 were significantly more likely to have external auditory canal stenosis and obstructive sleep apnea whereas patients with trisomy 13 were more likely to have cleft lip and palate. Conclusions: Patients with a diagnosis of trisomy 13 or 18 often require multidisciplinary management and the range of required care spans the breadth of otolaryngology. Level of Evidence: 4 Laryngoscope, 133:1501–1506, 2023 [ABSTRACT FROM AUTHOR]

Published
2023
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27. Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

Author

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, Khalid, Leventer, Richard J., Scheffer, Ingrid E., Muona, Mikko, Lehesjoki, Anna-Elina, Korczyn, Amos D., Herrmann, Harald, Berkovic, Samuel F., and Hildebrand, Michael S.

Published
2015
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32. Advancing genetic testing for deafness with genomic technology

Author

Shearer, A Eliot, Black-Ziegelbein, E Ann, Hildebrand, Michael S, Eppsteiner, Robert W, Ravi, Harini, Joshi, Swati, Guiffre, Angelica C, Sloan, Christina M, Happe, Scott, Howard, Susanna D, Novak, Barbara, DeLuca, Adam P, Taylor, Kyle R, Scheetz, Todd E, Braun, Terry A, Casavant, Thomas L, Kimberling, William J, LeProust, Emily M, and Smith, Richard J H

Published
2013
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34. Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients.

Author

Seligman, Kristen L., Shearer, A. Eliot, Frees, Kathy, Nishimura, Carla, Kolbe, Diana, Dunn, Camille, Hansen, Marlan R., Gantz, Bruce J., and Smith, Richard J. H.

Abstract

Understanding genetic causes of hearing loss can determine the pattern and course of a patient's hearing loss and may also predict outcomes after cochlear implantation. Our goal in this study was to evaluate genetic causes of hearing loss in a large cohort of adults and children with cochlear implants. We performed comprehensive genetic testing on all patients undergoing cochlear implantation. Of the 459 patients included in the study, 128 (28%) had positive genetic testing. In total, 44 genes were identified as causative. The top 5 genes implicated were GJB2 (20, 16%), TMPRSS3 (13, 10%), SLC26A4 (10, 8%), MYO7A (9, 7%), and MT-RNR1 (7, 5%). Pediatric patients had a higher diagnostic rate. This study lays the groundwork for future studies evaluating the relationship between genetic variation and cochlear implant performance. [ABSTRACT FROM AUTHOR]

Published
2022
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35. Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment

Author

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

Subjects
Massively parallel sequencing, Next-generation sequencing, Genomics, Targeted genomic enrichment, Sequence capture, Pre-capture multiplexing, Post-capture multiplexing, Indexing, Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background Targeted genomic enrichment (TGE) is a widely used method for isolating and enriching specific genomic regions prior to massively parallel sequencing. To make effective use of sequencer output, barcoding and sample pooling (multiplexing) after TGE and prior to sequencing (post-capture multiplexing) has become routine. While previous reports have indicated that multiplexing prior to capture (pre-capture multiplexing) is feasible, no thorough examination of the effect of this method has been completed on a large number of samples. Here we compare standard post-capture TGE to two levels of pre-capture multiplexing: 12 or 16 samples per pool. We evaluated these methods using standard TGE metrics and determined the ability to identify several classes of genetic mutations in three sets of 96 samples, including 48 controls. Our overall goal was to maximize cost reduction and minimize experimental time while maintaining a high percentage of reads on target and a high depth of coverage at thresholds required for variant detection. Results We adapted the standard post-capture TGE method for pre-capture TGE with several protocol modifications, including redesign of blocking oligonucleotides and optimization of enzymatic and amplification steps. Pre-capture multiplexing reduced costs for TGE by at least 38% and significantly reduced hands-on time during the TGE protocol. We found that pre-capture multiplexing reduced capture efficiency by 23 or 31% for pre-capture pools of 12 and 16, respectively. However efficiency losses at this step can be compensated by reducing the number of simultaneously sequenced samples. Pre-capture multiplexing and post-capture TGE performed similarly with respect to variant detection of positive control mutations. In addition, we detected no instances of sample switching due to aberrant barcode identification. Conclusions Pre-capture multiplexing improves efficiency of TGE experiments with respect to hands-on time and reagent use compared to standard post-capture TGE. A decrease in capture efficiency is observed when using pre-capture multiplexing; however, it does not negatively impact variant detection and can be accommodated by the experimental design.

Published
2012
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42. Contributors

Author

Abdul-Aziz, Dunia, Abuzeid, Waleed M., Adams, Meredith E., Adamson, Peter A., Agamah, Edem S., Agrawal, Yuri, Ahmad, Faisal I., Ahmed, Mostafa M., Akst, Seth A., Albergotti, W. Greer, Albers, Sheri L., Allen, Clint T., Alsaied, Abdulmalik S., Alwani, Mohamedkazim, Alyono, Jennifer Christy, Anderson, Carryn, Armstrong, William B., Arnold, Michelle G., Arriaga, Moises A., Arts, H. Alexander, Arvedson, Joan C., Ashram, Yasmine A., Aygun, Nafi, Backous, Douglas D., Baker, Shan R., Balkany, Thomas J., Balsalobre, Leonardo, Baroody, Fuad M., Bastian, Robert W., Basura, Gregory J., Batra, Pete S., Beadle, Beth M., Beckmann, Nicholas A., Bekeny, James R., Bell, Diana M., Bell, Elizabeth Bradford, Benninger, Michael S., Bernknopf, Heidi J., Beswick, Daniel M., Bhattarai, Mukul, Bleier, Benjamin S., Blevins, Nikolas H., Blitzer, Andrew, Boahene, Kofi, Bohm, Lauren A., Bottros, Michael M., Brackmann, Derald E., Bradford, Carol R., Branham, Gregory H., Branstetter, Barton F., IV, Brant, Jason A., Brietzke, Scott E., Brinkmeier, Jennifer, Brodie, Hilary A., Brown, Bena, Budenz, Cameron L., Burns, Clare, Byrd, J. Kenneth, Byrne, Patrick, Cai, Yi, Calloway, Hollin, Campisi, Paolo, Carey, John P., Carniol, Eric T., Carr, Simon D., Casazza, Geoffrey C., Casper, Keith, Castelnuovo, Paolo, Cejas, Ivette, Chang, Kay W., Chegar, Burke E., Cheng, Alan G., Cheng, Alan T.L., Chepeha, Douglas B., Chien, Wade W., Chin, Oliver Y., Choi, Sukgi S., Chole, Richard A., Choudhury, Baishakhi, Christian, James M., Chun, Robert H., Citardi, Martin J., Compton, Andrew Michael, Cosetti, Maura K., Council, M. Laurin, Courey, Mark S., Cover, Renee, Cox, Daniel R., Crane, Benjamin T., Creighton, Francis X., Jr, Crowson, Matthew G., Culicchia, Frank, Cummings, Charles W., Cunningham, Calhoun D., III, Cushing, Sharon L., Dahlin, Brian C., Daniel, Sam J., Dassi, Camila Soares, Day, Terry A., Dedhia, Kavita, Dedmon, Matthew M., Deep, Nicholas L., Della Santina, Charles C., Demke, Joshua C., Derkay, Craig S., Dewyer, Nicholas A., Diaz, Rodney C., Dilger, Amanda E., Driver, Lynn E., Durham, Alison B., Eisbruch, Avraham, Eisele, David W., Eisenberg, Laurie, El-Deiry, Mark, El Rassi, Edward, El-Kashlan, Hussam K., Elliott, Anila B., Elluru, Ravindhra G., Emmett, Susan D., Eu, Donovan, Fakhri, Samer, Fakhry, Carole, Farrior, Edward H., Feller-Kopman, David, Felts, Charles B., Fink, Daniel S., Fletcher, Kenneth C., Jr, Flint, Paul W., Floyd, Elizabeth M., Fokkens, Wytske J., Francis, Howard W., Friedland, David R., Friedman, Oren, Friedman, Rick A., Frodel, John L., Jr, Ganly, Ian, Gantous, Andres, Gantz, Bruce J., Garrett, C. Gaelyn, Gillespie, M. Boyd, Girod, Douglas A., Glick, Hannah, Goddard, John C., Goding, George S., Jr, Goldberg, Andrew N., Goldenberg, David, Goldstein, Nira A., Gonik, Nathan J., Gonzalez, Debra, Gourin, Christine G., Graham, M. Elise, Green, Glenn E., Green, Stephen T., Grégoire, Vincent, Grimmer, J. Fredrik, Gruffi, Catherine A., Gubbels, Samuel P., Gupta, Piyush, Gurgel, Richard K., Gurrola, Jose G., II, Ha, Jennifer F., Ha, Patrick K., Hajnas, Natalia M., Hamilton, Bronwyn E., Hamilton, Grant S., III, Hamoir, Marc, Hanna, Ehab Y., Harmon, Jeffrey J., Jr, Harréus, Ulrich, Banakis Hartl, Renee, Harvey, Richard, Haughey, Bruce H., Hawkins, Peter, Hellings, Peter, Hellstein, John W., Herzer, Kurt, Hilgers, Frans J.M., Hill, Justin D., Hillel, Alexander T., Hinni, Michael L., Hirce, Kellie J., Hoffman, Henry T., Holman, Ashlee E., Hom, David B., Hopkins, Claire, Houlton, Jeffrey J., House, John W., Hullar, Timothy E., Hummel, Thomas, Humtsoe, Joseph O., Hwang, Peter H., Ishman, Stacey L., Jabbour, Jad, Jackler, Robert K., Jackson, Neal M., James, Adrian L., Jameson, Brian, Jan, Taha A., Jenkins, Herman A., Jiam, Nicole T., Jin, Hong-Ryul, Johnson, Christopher M., Johnson, Timothy M., Kamani, Dipti, Karle, William E., Kavitt, Robert T., Kaylie, David M., Kellman, Robert M., Kennedy, David W., Kern, Robert C., Kerolus, Julia L., Kesser, Bradley W., Khan, Majid, Kileny, Paul R., Kim, Jennifer, Kimple, Adam J., King, Ericka F., Kirke, Diana N., Knecht, Elizabeth, Konior, Raymond J., Kraft, Shannon M., Kridel, Russell W.H., Kuan, Edward C., Kumar, Parvesh, Kunduk, Melda, Laccourreye, Ollivier, Lai, Stephen Y., Lal, Devyani, Lalwani, Anil K., Lam, Derek J., Lambert, Paul R., Larsen, Christopher G., Latchaw, Richard E., Lawlor, Claire M., Le Prell, Colleen G., Leahy, Kevin P., Lee, Daniel J., Lee, Edward R., Lee, Nancy, Lesperance, Marci M., Lester, Laeben, Levi, Jessica, Lewis, James S., Jr, Li, Daqing, Lian, Timothy S., Liddy, Whitney, Limb, Charles J., Lin, Frank R., Linkov, Gary, Loh, Thomas, Lorenz, Kai Johannes, Lott, David G., Lund, Valerie J., Lustig, Lawrence R., Lysakowski, Anna, Maisel, Robert H., Makki, Fawaz, Mangat, Devinder S., Marchioni, Daniele, Mark, Lynette J., Markt, Jeffery C., Marsh, Michael, Mattavelli, Davide, Mattox, Douglas E., McCrary, Hilary C., McGee, JoAnn, McGinn, Johnathan D., Mehta, Kinneri, Meier, Jeremy D., Merati, Albert L., Messing, Barbara P., Messner, Anna H., Meyer, Anna, Mierzwa, Michelle, Milczuk, Henry A., Millar, Jennifer L., Miller-Thomas, Michelle, Minor, Lloyd B., Misono, Stephanie, Mitchell, Jenna L., Mobley, Steven Ross, Moore, Eric J., Mostovych, Nadia K., Mowry, Sarah, Muntz, Harlan R., Mydlarz, Wojciech K., Nadimi, Sahar, Nadol, Joseph B., Jr, Naples, James G., Nassif, Paul S., Naunheim, Matthew R., Neel, Gregory S., Nelson, Marc E., Nelson, Rick F., Nicolai, Piero, Nieman, Carrie L., Noel, Richard J., Nouraei, S.A. Reza, Nugent, Ajani, Nuss, Daniel W., Nussenbaum, Brian, Odland, Rick M., Ohye, Richard G., O'Malley, Bert W., Jr, O'Reilly, Robert C., Orlandi, Richard R., Orlowski, Hilary L.P., Ottaviano, Giancarlo, Pagedar, Nitin A., Palmer, James N., Papsin, Blake C., Park, Albert H., Park, Stephen S., Parsons, Matthew S., Patterson, G. Alexander, Pellitteri, Phillip K., Perkins, Jonathan A., Perkins, Stephen W., Pierce, Bailey, Pignatari, Shirley S.N., Pletcher, Steven D., Poe, Dennis S., Popovtzer, Aron, Postma, Gregory N., Prueter, James C., Puglia, Michael P., II, Qian, Z. Jason, Quesnel, Alicia M., Rahbar, Reza, Ramachandran, Virginia, Ramakrishnan, Vijay R., Randolph, Gregory W., Rao, Krishna, Rao, Lesley, Rassekh, Christopher H., Reid, Lisa M., Reinisch, Lou, Rettig, Eleni, Rigby, Matthew H., Rivas, Alejandro, Robbins, K. Thomas, Roberts, Daniel S., Roby, Brianne, Roland, J. Thomas, Jr, Ronen, Ohad, Rosbe, Kristina W., Rosenfeld, Richard M., Rotter, Bruce E., Roxbury, Christopher R., Ruckenstein, Michael J., Runge, Christina L., Rybak, Leonard P., Saadi, Robert, Salinas, Thomas J., Samant, Sandeep, Samlan, Robin A., Sandhu, Guri S., Sarber, Kathleen M., Sauder, Cara L., Scher, Richard L., Schilder, Anne G.M., Schindler, Joshua S., Schmalbach, Cecelia E., Schoem, Scott R., Schubert, Michael C., Schulte, Joseph, Schwarz, Yehuda, Sciubba, James J., Sclafani, Anthony P., Seikaly, Hadi R., Selesnick, Samuel H., Senior, Brent A., Sharma, Anu, Sharon, Jeffrey D., Shearer, A. Eliot, Shelton, Clough, Shibata, Seiji B., Shnayder, Yelizaveta, Shuman, Elizabeth A., Sidell, Douglas R., Sinha, Parul, Sirjani, Davud B., Skirko, Jonathan R., Slager, Heidi K., Slattery, William H., III, Smith, Kristine A., Smith, Richard J.H., Smith, Ryan M., Smith, Timothy L., Soler, Zachary M., Spector, Matthew E., Sperry, Steven M., Stach, Brad A., Stachecki, Robert P., Stamm, Aldo Cassol, Stankiewicz, James A., Steitz, Jeffrey T., Stevens, Shawn M., Steward, David L., Stoddard, David G., Jr, Stokken, Janalee K., Sturm, Angela, Subramanian, Melanie, Sunwoo, John B., Swarm, Robert A., Sykes, Jonathan M., Syme, Noah P., Tardy, M. Eugene, Jr., Tatum, Sherard A., III, Taylor, S. Mark, Teasley, Rod A., Telian, Steven A., Terris, David J., Thatcher, Aaron L., Thomas, J. Regan, Timmons, Sherry R., Tjoa, Tjoson, Toriumi, Dean M., Trimarchi, Matteo, Tsue, Terance T., Tu, Nathan C., Turner, Michael D., Uppaluri, Ravindra, Vaezi, Michael F., Van Abel, Kathryn M., van den Brekel, Michiel W.M., Van Gerven, Laura, Venekamp, Roderick P., Verma, Sunil P., Villwock, Jennifer A., Vivas, Esther X., Vokes, David, Wackym, P. Ashley, Walsh, Edward J., Walvekar, Rohan R., Wang, Jennifer R., Wang, Tom D., Ward, Bryan K., Weber, Randal S., Wein, Richard O., Weinstein, Gregory S., Weitzel, Erik K., Welling, D. Bradley, Whitcroft, Katherine Lisa, Wiggins, Richard H., III, Wilkerson, Brent J., Wilkinson, Eric P., Wingo, Melissa L., Wise, Sarah K., Wishart, Laurelie R., Woodson, Erika, Woodson, Gayle Ellen, Wormald, Peter J., Worrall, Douglas M., Wrobel, Bozena B., Xu, Mary Jue, Yackel, Thomas R., Yan, Carol H., Yingling, Charles D., Yu, Diana H., Yu, Yao, Yueh, Bevan, Zafereo, Mark E., Zaldivar, Renzo, Zanation, Adam M., Zdanski, Carlton J., Zee, David S., Zeitler, Daniel M., Zimbler, Marc S., Zinreich, S. James, Zopf, David, and Zwolan, Teresa A.

Published
2021
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45. Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization

Author

Moteki, Hideaki, primary, Azaiez, Hela, additional, Sloan-Heggen, Christina M., additional, Booth, Kevin, additional, Nishio, Shin-ya, additional, Wakui, Keiko, additional, Yamaguchi, Tomomi, additional, Kolbe, Diana L., additional, Iwasa, Yoh-ichiro, additional, Shearer, A. Eliot, additional, Fukushima, Yoshimitsu, additional, Smith, Richard J.H., additional, and Usami, Shin-ichi, additional

Published
2016
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46. Adult type rhabdomyoma presenting as a parathyroid adenoma.

Author

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

Subjects
MUSCLE tumors, SYMPTOMS, SKELETAL muscle, INAPPROPRIATE prescribing (Medicine)
Abstract

Background: Adult‐type rhabdomyoma (ATR) is a rare mesenchymal tumor of skeletal muscle differentiation. Extracardiac ATR occurs most commonly in the head and neck, but do so in a heterogeneous fashion, arising at numerous different locations within this region. Methods: At our institution, we encountered a patient who was diagnosed clinically with parathyroid adenoma based on signs and symptoms of hyperparathyroidism and suggestive radiologic findings. A parathyroidectomy with intraoperative consultation was performed. Results: The frozen section diagnosis was ambiguous and a diagnosis of ATR was only made on permanent section. Conclusion: Awareness of this tumor can prevent incorrect diagnosis and overtreatment intraoperatively. Herein, we describe the clinical history, pathologic findings, and review histologic features of rhabdomyomas. [ABSTRACT FROM AUTHOR]

Published
2019
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47. Audioprofile Surfaces

Author

Taylor, Kyle R., primary, Booth, Kevin T., additional, Azaiez, Hela, additional, Sloan, Christina M., additional, Kolbe, Diana L., additional, Glanz, Emily N., additional, Shearer, A. Eliot, additional, DeLuca, Adam P., additional, Anand, V. Nikhil, additional, Hildebrand, Michael S., additional, Simpson, Allen C., additional, Eppsteiner, Robert W., additional, Scheetz, Todd E., additional, Braun, Terry A., additional, Huygen, Patrick L. M., additional, Smith, Richard J. H., additional, and Casavant, Thomas L., additional

Published
2015
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49. PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Author

Hildebrand, Michael S., primary, Tankard, Rick, additional, Gazina, Elena V., additional, Damiano, John A., additional, Lawrence, Kate M., additional, Dahl, Hans‐Henrik M., additional, Regan, Brigid M., additional, Shearer, Aiden Eliot, additional, Smith, Richard J. H., additional, Marini, Carla, additional, Guerrini, Renzo, additional, Labate, Angelo, additional, Gambardella, Antonio, additional, Tinuper, Paolo, additional, Lichetta, Laura, additional, Baldassari, Sara, additional, Bisulli, Francesca, additional, Pippucci, Tommaso, additional, Scheffer, Ingrid E., additional, Reid, Christopher A., additional, Petrou, Steven, additional, Bahlo, Melanie, additional, and Berkovic, Samuel F., additional

Published
2015
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