Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

Por Lieber, Daniel S, Vafai, Scott B, Horton, Laura C, Slate, Nancy G, Liu, Shangtao, Borowsky, Mark L, Calvo, Sarah E, Schmahmann, Jeremy D, Mootha, Vamsi K
Publicado em 2012

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

Por Talkowski, Michael E., Ernst, Carl, Heilbut, Adrian, Chiang, Colby, Hanscom, Carrie, Lindgren, Amelia, Kirby, Andrew, Liu, Shangtao, Muddukrishna, Bhavana, Ohsumi, Toshiro K., Shen, Yiping, Borowsky, Mark, Daly, Mark J., Morton, Cynthia C., Gusella, James F.
Publicado em 2011

Targeted exome sequencing of suspected mitochondrial disorders

Por Lieber, Daniel S., Calvo, Sarah E., Shanahan, Kristy, Slate, Nancy G., Liu, Shangtao, Hershman, Steven G., Gold, Nina B., Chapman, Brad A., Thorburn, David R., Berry, Gerard T., Schmahmann, Jeremy D., Borowsky, Mark L., Mueller, David M., Sims, Katherine B., Mootha, Vamsi K.
Publicado em 2013

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Por Calvo, Sarah E., Compton, Alison G., Hershman, Steven G., Lim, Sze Chern, Lieber, Daniel S., Tucker, Elena J., Laskowski, Adrienne, Garone, Caterina, Liu, Shangtao, Jaffe, David B., Christodoulou, John, Fletcher, Janice M., Bruno, Damien L, Goldblatt, Jack, DiMauro, Salvatore, Thorburn, David R., Mootha, Vamsi K.
Publicado em 2012