Phenotypic and functional characterization of Bst+/− mouse retina

by Riazifar, Hamidreza, Sun, Guoli, Wang, Xinjian, Rupp, Alan, Vemaraju, Shruti, Ross-Cisneros, Fred N., Lang, Richard A., Sadun, Alfredo A., Hattar, Samer, Guan, Min-Xin, Huang, Taosheng
Published 2015

A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential

by Gong, Shasha, Peng, Yanyan, Jiang, Pingping, Wang, Meng, Fan, Mingjie, Wang, Xinjian, Zhou, Hong, Li, Huawei, Yan, Qingfeng, Huang, Taosheng, Guan, Min-Xin
Published 2014

Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism

by Valencia, C. Alexander, Wang, Xinjian, Wang, Jin, Peters, Anna, Simmons, Julia R., Moran, Molly C., Mathur, Abhinav, Husami, Ammar, Qian, Yaping, Sheridan, Rachel, Bove, Kevin E., Witte, David, Huang, Taosheng, Miethke, Alexander G.
Published 2016

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

by Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.
Published 2015

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

by Simon, Mariella, Richard, Elodie M., Wang, Xinjian, Shahzad, Mohsin, Huang, Vincent H., Qaiser, Tanveer A., Potluri, Prasanth, Mahl, Sarah E., Davila, Antonio, Nazli, Sabiha, Hancock, Saege, Yu, Margret, Gargus, Jay, Chang, Richard, Al-sheqaih, Nada, Newman, William G., Abdenur, Jose, Starr, Arnold, Hegde, Rashmi, Dorn, Thomas, Busch, Anke, Park, Eddie, Wu, Jie, Schwenzer, Hagen, Flierl, Adrian, Florentz, Catherine, Sissler, Marie, Khan, Shaheen N., Li, Ronghua, Guan, Min-Xin, Friedman, Thomas B., Wu, Doris K., Procaccio, Vincent, Riazuddin, Sheikh, Wallace, Douglas C., Ahmed, Zubair M., Huang, Taosheng, Riazuddin, Saima
Published 2015