Search Results - "Schaefer, Amanda"

Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) by Li, Marilyn M., Tayoun, Ahmad Abou, DiStefano, Marina, Pandya, Arti, Rehm, Heidi L., Robin, Nathaniel H., Schaefer, Amanda M., Yoshinaga-Itano, Christine

“…Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of…”
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Is Genetic Testing Indicated in a Pediatric Patient with Unilateral Hearing Loss or Single‐Sided Deafness? by Kocharyan, Armine, Schaefer, Amanda M., Smith, Richard J. H., Hansen, Marlan R.

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Microfluidic perfusion modulates growth and motor neuron differentiation of stem cell aggregates by Jackson-Holmes, Emily L, Schaefer, Amanda W, McDevitt, Todd C, Lu, Hang

“…Microfluidic technologies provide many advantages for studying differentiation of three-dimensional (3D) stem cell aggregates, including the ability to control…”
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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome by Tollefson, Mallory R., Gogal, Rose A., Weaver, A. Monique, Schaefer, Amanda M., Marini, Robert J., Azaiez, Hela, Kolbe, Diana L., Wang, Donghong, Weaver, Amy E., Casavant, Thomas L., Braun, Terry A., Smith, Richard J. H., Schnieders, Michael J.

“…Hearing loss is the leading sensory deficit, affecting ~ 5% of the population. It exhibits remarkable heterogeneity across 223 genes with 6328 pathogenic…”
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Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma–pheochromocytoma syndrome by Greenberg, Samantha E., Jacobs, Michelle F., Wachtel, Heather, Anson, Amanda, Buchmann, Luke, Cohen, Debbie L., Bonanni, Maria, Bennett, Bonita, Naumer, Anne, Schaefer, Amanda M., Kohlmann, Wendy, Nathanson, Katherine L., Else, Tobias, Fishbein, Lauren

“…Purpose Minimal data exist regarding the efficacy of screening protocols for individuals with SDHx germline pathogenic variants with hereditary…”
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De novo variants are a common cause of genetic hearing loss by Klimara, Miles J., Nishimura, Carla, Wang, Donghong, Kolbe, Diana L., Schaefer, Amanda M., Walls, William D., Frees, Kathy L., Smith, Richard J.H., Azaiez, Hela

“…De novo variants (DNVs) are a well-recognized cause of genetic disorders. The contribution of DNVs to hearing loss (HL) is poorly characterized. We aimed to…”
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Can dual-energy computed tomography improve visualization of hypoenhancing liver lesions in portal venous phase? Assessment of advanced image-based virtual monoenergetic images by Caruso, Damiano, De Cecco, Carlo N., Schoepf, U. Joseph, Schaefer, Amanda R., Leland, Parker W., Johnson, Dustin, Laghi, Andrea, Hardie, Andrew D.

“…The purpose was to assess image quality of portal-venous phase dual-energy computed tomography (DECT) for liver lesions. We performed 120-kVp-equivalent…”
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A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations by Walls, W. Daniel, Moteki, Hideaki, Thomas, Taylor R., Nishio, Shin-ya, Yoshimura, Hidekane, Iwasa, Yoichiro, Frees, Kathy L., Nishimura, Carla J., Azaiez, Hela, Booth, Kevin T., Marini, Robert J., Kolbe, Diana L., Weaver, A. Monique, Schaefer, Amanda M., Wang, Kai, Braun, Terry A., Usami, Shin-ichi, Barr-Gillespie, Peter G., Richardson, Guy P., Smith, Richard J., Casavant, Thomas L.

“…We present detailed comparative analyses to assess population-level differences in patterns of genetic deafness between European/American and Japanese cohorts…”
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Diagnosis and management of intraoperative thyroid storm in a child with undiagnosed Graves’ disease: a case report by Schaefer, Amanda W., Solorzano, Pedro J., Mavarez, Ana C., Muñoz-Monaco, Gustavo M.

“…Background Thyroid storm is a life-threatening manifestation of thyrotoxicosis and presents with fever, diaphoresis, tachycardia, hypertension, and widened…”
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Optimization of window settings for virtual monoenergetic imaging in dual-energy CT of the liver: A multi-reader evaluation of standard monoenergetic and advanced imaged-based monoenergetic datasets by De Cecco, Carlo N, Caruso, Damiano, Schoepf, U. Joseph, Wichmann, Julian L, Ter Louw, Janet R, Perry, Jonathan D, Picard, Melissa M, Schaefer, Amanda R, Parker, Leland W, Hardie, Andrew D

“…Highlights • M70 and M50+ keV monoenergetic images show higher contrast attenuation than LB120, which may affect window settings. • Arterial and portal M50+…”
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Principles of Care for Patients with Craniofacial Ballistic Injuries by Yu, Jack, Tidwell, Taylor, Schaefer, Amanda, Lin, Kant, Lee, Chia-Chun, Wang, Tien-Hsiang

“…ABSTRACT The mortality rate from firearm injuries in the US has decreased from 30.3 per 100,000 people in 1990 to 20.6 in 2010, likely due to improvement in…”
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ATOH1 Promotes Leptomeningeal Dissemination and Metastasis of Sonic Hedgehog Subgroup Medulloblastomas by Grausam, Katie B, Dooyema, Samuel D R, Bihannic, Laure, Premathilake, Hasitha, Morrissy, A Sorana, Forget, Antoine, Schaefer, Amanda M, Gundelach, Justin H, Macura, Slobodan, Maher, Diane M, Wang, Xin, Heglin, Alex H, Ge, Xijin, Zeng, Erliang, Puget, Stephanie, Chandrasekar, Indra, Surendran, Kameswaran, Bram, Richard J, Schüller, Ulrich, Talyor, Michael D, Ayrault, Olivier, Zhao, Haotian

“…Medulloblastoma arising from the cerebellum is the most common pediatric brain malignancy, with leptomeningeal metastases often present at diagnosis and…”
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Detection and Clinical Significance of Sternal Lesions on Breast MRI by Schaefer, Amanda R, Yang, Limin, Park, Jeong Mi, Xiong, Jinhu, Fajardo, Laurie L

“…The purpose of this study is to characterize sternal lesions detected on breast magnetic resonance imaging (MRI), compare MRI detection of sternal lesions with…”
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Use of Antimetastatic SOD3-Mimetic Albumin as a Primer in Triple Negative Breast Cancer by Miskimins, W. Keith, Hsia, Carleton J. C., Jin, Jenny, Keime, Noah, Soltys, Bohdan J., Zhuang, Yongxian, Schaefer, Amanda M., Messerli, Shanta M., Ma, Li

“…Of the deaths attributed to cancer, 90% are due to metastasis. Treatments that prevent or cure metastasis remain elusive. Low expression of extracellular…”
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Genome-Wide Analysis of DNA Methylation in Human Amnion by Gadow, Enrique, Cosentino, Viviana, Comas, Belén, Saleme, Cesar, Schaefer, Amanda R., Christine, Paul J., Pitlick, Mitchell M., Kim, Jinsil, Murray, Jeffrey C.

“…The amnion is a specialized tissue in contact with the amniotic fluid, which is in a constantly changing state. To investigate the importance of epigenetic…”
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Recombinant viruses initiated the early HIV-1 epidemic in Burkina Faso by Fonjungo, Peter N, Kalish, Marcia L, Schaefer, Amanda, Rayfield, Mark, Mika, Jennifer, Rose, Laura E, Heslop, Orville, Soudré, Robert, Pieniazek, Danuta

“…We analyzed genetic diversity and phylogenetic relationships among 124 HIV-1 and 19 HIV-2 strains in sera collected in 1986 from patients of the state hospital…”
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Recombinant viruses and early global HIV-1 epidemic by Kalish, Marcia L, Robbins, Kenneth E, Pieniazek, Danuta, Schaefer, Amanda, Nzilambi, Nzila, Quinn, Thomas C, St Louis, Michael E, Youngpairoj, Ae S, Phillips, Jonathan, Jaffe, Harold W, Folks, Thomas M

“…Central Africa was the epicenter of the HIV type 1 (HIV-1) pandemic. Understanding the early epidemic in the Democratic Republic of the Congo, formerly Zaire,…”
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Analysis of Factors Influencing Financial Cost and Morbidity in Nonfatal Firearm Injuries by Tracy, Katharine, Jones, Melanie, Langston, Ryan, Schaefer, Amanda, Nguyen, Tena, Tidwell, Taylor, Simmerman Mabes, Erika, Yu, Jack

“…Representing 68% of firearm-related injuries, nonfatal firearm injuries cause substantial morbidity and are associated with high costs to patients and the…”
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Divergent HIV and simian immunodeficiency virus surveillance, Zaire by Schaefer, Amanda, Robbins, Kenneth E, Nzilambi, Eugene Nzila, St Louis, Michael E, Quinn, Thomas C, Folks, Thomas M, Kalish, Marcia L, Pieniazek, Danuta

“…Recent HIV infection or divergent HIV or simian immunodeficiency virus (SIV) strains may be responsible for Western blot-indeterminate results on 70 serum…”
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Improved Sensitivity and Reader Confidence in CT Colonography Using Dual-Layer Spectral CT: A Phantom Study by Obmann, Markus M, An, Chansik, Schaefer, Amanda, Sun, Yuxin, Wang, Zhen J, Yee, Judy, Yeh, Benjamin M

“…Background Limited cathartic preparations for CT colonography with fecal tagging can improve patient comfort but may result in nondiagnostic examinations from…”
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