Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

Por Lieber, Daniel S, Hershman, Steven G, Slate, Nancy G, Calvo, Sarah E, Sims, Katherine B, Schmahmann, Jeremy D, Mootha, Vamsi K
Publicado em 2014

The Asthma Mobile Health Study, a large-scale clinical observational study using ResearchKit

Por Chan, Yu-Feng Yvonne, Wang, Pei, Rogers, Linda, Tignor, Nicole, Zweig, Micol, Hershman, Steven G, Genes, Nicholas, Scott, Erick R, Krock, Eric, Badgeley, Marcus, Edgar, Ron, Violante, Samantha, Wright, Rosalind, Powell, Charles A, Dudley, Joel T, Schadt, Eric E
Publicado no Nat Biotechnol (2017)

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

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

Por Tucker, Elena J., Hershman, Steven G., Köhrer, Caroline, Belcher-Timme, Casey A., Patel, Jinal, Goldberger, Olga A., Christodoulou, John, Silberstein, Jonathon M., McKenzie, Matthew, Ryan, Michael T., Compton, Alison G., Jaffe, Jacob D., Carr, Steven A., Calvo, Sarah E., RajBhandary, Uttam L., Thorburn, David R., Mootha, Vamsi K.
Publicado em 2011