Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder

por Jones, Marilyn C., Topol, Sarah E., Rueda, Manuel, Oliveira, Glenn, Phillips, Tierney, Spencer, Emily G., Torkamani, Ali
Publicado 2017

Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?

por Rueda, Manuel, Wagner, Jennifer L., Phillips, Tierney C., Topol, Sarah E., Muse, Evan D., Lucas, Jonathan R., Wagner, Glenn N., Topol, Eric J., Torkamani, Ali
Publicado 2017

Corrigendum: Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?

por Rueda, Manuel, Wagner, Jennifer L., Phillips, Tierney C., Topol, Sarah E., Muse, Evan D., Lucas, Jonathan R., Wagner, Glenn N., Topol, Eric J., Torkamani, Ali
Publicado 2018

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases

por Salfati, Elias L., Spencer, Emily G., Topol, Sarah E., Muse, Evan D., Rueda, Manuel, Lucas, Jonathan R., Wagner, Glenn N., Campman, Steven, Topol, Eric J., Torkamani, Ali
Publicado 2019

Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy

por Pacheu-Grau, David, Callegari, Sylvie, Emperador, Sonia, Thompson, Kyle, Aich, Abhishek, Topol, Sarah E, Spencer, Emily G, McFarland, Robert, Ruiz-Pesini, Eduardo, Torkamani, Ali, Taylor, Robert W, Montoya, Julio, Rehling, Peter
Publicado 2018

A Genome Sequencing Program for Novel Undiagnosed Diseases

por Bloss, Cinnamon S., Scott-Van Zeeland, Ashley A., Topol, Sarah E., Darst, Burcu F., Boeldt, Debra L., Erikson, Galina A., Bethel, Kelly J., Bjork, Robert L., Friedman, Jennifer R., Hwynn, Nelson, Patay, Bradley A., Pockros, Paul J., Scott, Erick R., Simon, Ronald A., Williams, Gary W., Schork, Nicholas J., Topol, Eric J., Torkamani, Ali
Publicado 2015