<i>DFNA5</i> (<i>GSDME</i>) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?

by Kevin T. Booth, Hela Azaiez, Richard J. H. Smith
Published 2020-05-01

Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects

by Fengxiao Bu, Nicolo Borsa, Ardissino Gianluigi, Richard J. H. Smith
Published 2012-01-01

Hair Cell Transduction Efficiency of Single- and Dual-AAV Serotypes in Adult Murine Cochleae

by Ryotaro Omichi, Hidekane Yoshimura, Seiji B. Shibata, Luk H. Vandenberghe, Richard J.H. Smith
Published 2020-06-01

Factor B and C4b2a Autoantibodies in C3 Glomerulopathy

by Jill J. Hauer, Dingwu Shao, Yuzhou Zhang, Carla M. Nester, Richard J. H. Smith
Published 2019-04-01

Intracellular Regulome Variability Along the Organ of Corti: Evidence, Approaches, Challenges, and Perspective

by Kevin T. Booth, Kevin T. Booth, Hela Azaiez, Israt Jahan, Richard J. H. Smith, Bernd Fritzsch, Bernd Fritzsch
Published 2018-05-01

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

by Charuta Joshi, Diana L. Kolbe, M. Adela Mansilla, Sara O. Mason, Richard J. H. Smith, Colleen A. Campbell
Published 2016-01-01

Insights into the Biology of Hearing and Deafness Revealed by Single-Cell RNA Sequencing

by Paul T. Ranum, Alexander T. Goodwin, Hidekane Yoshimura, Diana L. Kolbe, William D. Walls, Jin-Young Koh, David Z.Z. He, Richard J.H. Smith
Published 2019-03-01

A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse.

by Yoko Nakano, Israt Jahan, Gregory Bonde, Xingshen Sun, Michael S Hildebrand, John F Engelhardt, Richard J H Smith, Robert A Cornell, Bernd Fritzsch, Botond Bánfi
Published 2012-01-01

A claudin-9-based ion permeability barrier is essential for hearing.

by Yoko Nakano, Sung H Kim, Hyoung-Mi Kim, Joel D Sanneman, Yuzhou Zhang, Richard J H Smith, Daniel C Marcus, Philine Wangemann, Randy A Nessler, Botond Bánfi
Published 2009-08-01

CFH and CFHR Copy Number Variations in C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative Glomerulonephritis

by Rossella Piras, Matteo Breno, Elisabetta Valoti, Marta Alberti, Paraskevas Iatropoulos, Caterina Mele, Elena Bresin, Roberta Donadelli, Paola Cuccarolo, Richard J. H. Smith, Ariela Benigni, Giuseppe Remuzzi, Marina Noris
Published 2021-06-01

IgG4-related disease in an adolescent with radiologic-pathologic correlation

by Renato Cesar Ferreira da Silva, MD, Scott M. Lieberman, MD, PhD, Henry T. Hoffman, MD, Bruno Policeni, MBA, MD, Amani Bashir, MBBS, Richard J.H. Smith, MD, T. Shawn Sato, MD
Published 2017-03-01

Factor H Autoantibodies and Complement-Mediated Diseases

by Yuzhou Zhang, Nicolo Ghiringhelli Borsa, Dingwu Shao, Arthur Dopler, Michael B. Jones, Nicole C. Meyer, Gabriella R. Pitcher, Amanda O. Taylor, Carla M. Nester, Christoph Q. Schmidt, Richard J. H. Smith
Published 2020-12-01

Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells

by Lut Van Laer, Markus Pfister, Sofie Thys, Karen Vrijens, Marcus Mueller, Lieve Umans, Lutgarde Serneels, Luc Van Nassauw, Frank Kooy, Richard J.H. Smith, Jean-Pierre Timmermans, Fred Van Leuven, Guy Van Camp
Published 2005-08-01

Selective Binding of Heparin/Heparan Sulfate Oligosaccharides to Factor H and Factor H-Related Proteins: Therapeutic Potential for C3 Glomerulopathies

by Markus A. Loeven, Marissa L. Maciej-Hulme, Cansu Yanginlar, Melanie C. Hubers, Edwin Kellenbach, Mark de Graaf, Toin H. van Kuppevelt, Jack Wetzels, Ton J. Rabelink, Richard J. H. Smith, Johan van der Vlag
Published 2021-08-01

Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.

by Denise Yan, Guangxin Xiang, Xingping Chai, Jie Qing, Haiqiong Shang, Bing Zou, Rahul Mittal, Jun Shen, Richard J H Smith, Yao-Shan Fan, Susan H Blanton, Mustafa Tekin, Cynthia Morton, Wanli Xing, Jing Cheng, Xue Zhong Liu
Published 2017-01-01

HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.

by Hela Azaiez, Amanda R Decker, Kevin T Booth, Allen C Simpson, A Eliot Shearer, Patrick L M Huygen, Fengxiao Bu, Michael S Hildebrand, Paul T Ranum, Seiji B Shibata, Ann Turner, Yuzhou Zhang, William J Kimberling, Robert A Cornell, Richard J H Smith
Published 2015-03-01

Grxcr2 is required for stereocilia morphogenesis in the cochlea.

by Matthew R Avenarius, Jae-Yun Jung, Charles Askew, Sherri M Jones, Kristina L Hunker, Hela Azaiez, Atteeq U Rehman, Margit Schraders, Hossein Najmabadi, Hannie Kremer, Richard J H Smith, Gwenaëlle S G Géléoc, David F Dolan, Yehoash Raphael, David C Kohrman
Published 2018-01-01

Age at diagnosis, but not HPV type, is strongly associated with clinical course in recurrent respiratory papillomatosis.

by Farrel J Buchinsky, William L Valentino, Nicole Ruszkay, Evan Powell, Craig S Derkay, Riaz Y Seedat, Virgilijus Uloza, Frederik G Dikkers, David E Tunkel, Sukgi S Choi, Anthony J Mortelliti, Paolo Campisi, Juan C Ospina, Adam J Donne, Robert T Sataloff, Stephen F Conley, John E McClay, Ellen M Friedman, Lisa Elden, Dale A Tylor, Clark A Rosen, Libby J Smith, Graeme J Copley, David E Karas, John M Schweinfurth, Charles M Myer, Brian J Wiatrak, Joseph E Dohar, Steven E Sobol, Robert W Bastian, Richard J H Smith, Marshall E Smith, Abebe M Wassie, James C Post, Garth D Ehrlich
Published 2019-01-01