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

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

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

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

A Claudin-9–Based Ion Permeability Barrier Is Essential for Hearing

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

Atypical post-infectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement

by Sethi, Sanjeev, Fervenza, Fernando C., Zhang, Yuzhou, Zand, Ladan, Meyer, Nicole C., Borsa, Nicolò, Nasr, Samih H., Smith, Richard J.H.
Published 2012

A Mutation in the Srrm4 Gene Causes Alternative Splicing Defects and Deafness in the Bronx Waltzer Mouse

by 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 2012

C3 Glomerulonephritis: Clinicopathologic findings, complement abnormalities, glomerular proteomic profile, treatment and follow-up

by Sethi, Sanjeev, Fervenza, Fernando C., Zhang, Yuzhou, Zand, Ladan, Vrana, Julie A, Nasr, Samih H., Theis, Jason D., Dogan, Ahmet, Smith, Richard J.H.
Published 2012

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

by Shearer, A Eliot, Kolbe, Diana L, Azaiez, Hela, Sloan, Christina M, Frees, Kathy L, Weaver, Amy E, Clark, Erika T, Nishimura, Carla J, Black-Ziegelbein, E Ann, Smith, Richard J H
Published 2014

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

by 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 2015

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

by Charizopoulou, Nikoletta, Lelli, Andrea, Schraders, Margit, Ray, Kausik, Hildebrand, Michael S., Ramesh, Arabandi, Srisailapathy, C. R. Srikumari, Oostrik, Jaap, Admiraal, Ronald J. C., Neely, Harold R., Latoche, Joseph R., Smith, Richard J. H., Northup, John K., Kremer, Hannie, Holt, Jeffrey R., Noben-Trauth, Konrad
Published 2011

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

by Zong, Liang, Guan, Jing, Ealy, Megan, Zhang, Qiujing, Wang, Dayong, Wang, Hongyang, Zhao, Yali, Shen, Zhirong, Campbell, Colleen A, Wang, Fengchao, Yang, Ju, Sun, Wei, Lan, Lan, Ding, Dalian, Xie, Linyi, Qi, Yue, Lou, Xin, Huang, Xusheng, Shi, Qiang, Chang, Suhua, Xiong, Wenping, Yin, Zifang, Yu, Ning, Zhao, Hui, Wang, Jun, Wang, Jing, Salvi, Richard J, Petit, Christine, Smith, Richard J H, Wang, Qiuju
Published 2015

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

by 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, Guerrini, Renzo, Labate, Angelo, Gambardella, Antonio, Tinuper, Paolo, Lichetta, Laura, Baldassari, Sara, Bisulli, Francesca, Pippucci, Tommaso, Scheffer, Ingrid E, Reid, Christopher A, Petrou, Steven, Bahlo, Melanie, Berkovic, Samuel F
Published 2015

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

by 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 2016

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

by Rehman, Atteeq U, Santos-Cortez, Regie Lyn P, Drummond, Meghan C, Shahzad, Mohsin, Lee, Kwanghyuk, Morell, Robert J, Ansar, Muhammad, Jan, Abid, Wang, Xin, Aziz, Abdul, Riazuddin, Saima, Smith, Joshua D, Wang, Gao T, Ahmed, Zubair M, Gul, Khitab, Shearer, A Eliot, Smith, Richard J H, Shendure, Jay, Bamshad, Michael J, Nickerson, Deborah A, Hinnant, John, Khan, Shaheen N, Fisher, Rachel A, Ahmad, Wasim, Friderici, Karen H, Riazuddin, Sheikh, Friedman, Thomas B, Wilch, Ellen S, Leal, Suzanne M
Published 2015