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., Ranum, Paul T., Weaver, Amy E., Black-Ziegelbein, E. Ann, Wang, Donghong, Azaiez, Hela, Smith, Richard J. H.
Published in Human genetics (01.04.2016)
Published in Human genetics (01.04.2016)
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Comprehensive Genetic Analysis of Complement and Coagulation Genes in Atypical Hemolytic Uremic Syndrome
FENGXIAO BU, MAGA, Tara, MEYER, Nicole C, KAI WANG, THOMAS, Christie P, NESTER, Carla M, SMITH, Richard J. H
Published in Journal of the American Society of Nephrology (01.01.2014)
Published in Journal of the American Society of Nephrology (01.01.2014)
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C3 glomerulopathy — understanding a rare complement-driven renal disease
Smith, Richard J. H., Appel, Gerald B., Blom, Anna M., Cook, H. Terence, D’Agati, Vivette D, Fakhouri, Fadi, Fremeaux-Bacchi, Véronique, Józsi, Mihály, Kavanagh, David, Lambris, John D., Noris, Marina, Pickering, Matthew C., Remuzzi, Giuseppe, de Córdoba, Santiago Rodriguez, Sethi, Sanjeev, Van der Vlag, Johan, Zipfel, Peter F., Nester, Carla M.
Published in Nature reviews. Nephrology (01.03.2019)
Published in Nature reviews. Nephrology (01.03.2019)
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Microbial formation of labile organic carbon in Antarctic glacial environments
Smith, H. J., Foster, R. A., McKnight, D. M., Lisle, J. T., Littmann, S., Kuypers, M. M. M., Foreman, C. M.
Published in Nature geoscience (01.05.2017)
Published in Nature geoscience (01.05.2017)
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Neoadjuvant chemotherapy in breast cancer-response evaluation and prediction of response to treatment using dynamic contrast-enhanced and diffusion-weighted MR imaging
Fangberget, A., Nilsen, L. B., Hole, K. H., Holmen, M. M., Engebraaten, O., Naume, B., Smith, H.-J., Olsen, D. R., Seierstad, T.
Published in European radiology (01.06.2011)
Published in European radiology (01.06.2011)
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Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing
Shearer, A. Eliot, DeLuca, Adam P., Hildebrand, Michael S., Taylor, Kyle R., Gurrola, José, Scherer, Steve, Scheetz, Todd E., Smith, Richard J. H., King, Mary-Claire
Published in Proceedings of the National Academy of Sciences - PNAS (07.12.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (07.12.2010)
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Thematic accuracy of the NLCD 2001 land cover for the conterminous United States
Wickham, J.D., Stehman, S.V., Fry, J.A., Smith, J.H., Homer, C.G.
Published in Remote sensing of environment (15.06.2010)
Published in Remote sensing of environment (15.06.2010)
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Body plethysmography – Its principles and clinical use
Criée, C.P, Sorichter, S, Smith, H.J, Kardos, P, Merget, R, Heise, D, Berdel, D, Köhler, D, Magnussen, H, Marek, W, Mitfessel, H, Rasche, K, Rolke, M, Worth, H, Jörres, R.A
Published in Respiratory medicine (01.07.2011)
Published in Respiratory medicine (01.07.2011)
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Foxn1 regulates lineage progression in cortical and medullary thymic epithelial cells but is dispensable for medullary sublineage divergence
Nowell, Craig S, Bredenkamp, Nicholas, Tetélin, Stéphanie, Jin, Xin, Tischner, Christin, Vaidya, Harsh, Sheridan, Julie M, Stenhouse, Frances Hogg, Heussen, Raphaela, Smith, Andrew J H, Blackburn, C Clare
Published in PLoS genetics (01.11.2011)
Published in PLoS genetics (01.11.2011)
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Seeing shapes in seemingly random spatial patterns: Fractal analysis of Rorschach inkblots
Taylor, R P, Martin, T P, Montgomery, R D, Smith, J H, Micolich, A P, Boydston, C, Scannell, B C, Fairbanks, M S, Spehar, B
Published in PloS one (14.02.2017)
Published in PloS one (14.02.2017)
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A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse
Nakano, Yoko, Jahan, Israt, Bonde, Gregory, Sun, Xingshen, Hildebrand, Michael S, Engelhardt, John F, Smith, Richard J H, Cornell, Robert A, Fritzsch, Bernd, Bánfi, Botond
Published in PLoS genetics (01.10.2012)
Published in PLoS genetics (01.10.2012)
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On-microscope staging of live cells reveals changes in the dynamics of transcriptional bursting during differentiation
Jeziorska, D. M., Tunnacliffe, E. A. J., Brown, J. M., Ayyub, H., Sloane-Stanley, J., Sharpe, J. A., Lagerholm, B. C., Babbs, C., Smith, A. J. H., Buckle, V. J., Higgs, D. R.
Published in Nature communications (04.11.2022)
Published in Nature communications (04.11.2022)
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Gene therapy for hearing loss
Omichi, Ryotaro, Shibata, Seiji B, Morton, Cynthia C, Smith, Richard J H
Published in Human molecular genetics (01.10.2019)
Published in Human molecular genetics (01.10.2019)
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Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)
Abrera-Abeleda, M A, Nishimura, C, Smith, J L H, Sethi, S, McRae, J L, Murphy, B F, Silvestri, G, Skerka, C, Józsi, M, Zipfel, P F, Hageman, G S, Smith, R J H
Published in Journal of medical genetics (01.07.2006)
Published in Journal of medical genetics (01.07.2006)
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Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach
Yan, Denise, Xiang, Guangxin, Chai, Xingping, Qing, Jie, Shang, Haiqiong, Zou, Bing, Mittal, Rahul, Shen, Jun, Smith, Richard J H, Fan, Yao-Shan, Blanton, Susan H, Tekin, Mustafa, Morton, Cynthia, Xing, Wanli, Cheng, Jing, Liu, Xue Zhong
Published in PloS one (08.03.2017)
Published in PloS one (08.03.2017)
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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, Zhang, Yuzhou, Kimberling, William J, Cornell, Robert A, Smith, Richard J H
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Efficacy and safety of OK-432 immunotherapy of lymphatic malformations
Smith, Mark C, Zimmerman, M Bridget, Burke, Diane K, Bauman, Nancy M, Sato, Yutaka, Smith, Richard J H
Published in The Laryngoscope (01.01.2009)
Published in The Laryngoscope (01.01.2009)
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