Whole-Genome Sequencing of a Healthy Aging Cohort
Erikson, Galina A., Bodian, Dale L., Rueda, Manuel, Molparia, Bhuvan, Scott, Erick R., Scott-Van Zeeland, Ashley A., Topol, Sarah E., Wineinger, Nathan E., Niederhuber, John E., Topol, Eric J., Torkamani, Ali
Published in Cell (05.05.2016)
Published in Cell (05.05.2016)
Get full text
Journal Article
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases
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
Published in Genome medicine (17.12.2019)
Published in Genome medicine (17.12.2019)
Get full text
Journal Article
Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?
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
Published in Frontiers in cardiovascular medicine (09.11.2017)
Published in Frontiers in cardiovascular medicine (09.11.2017)
Get full text
Journal Article
Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy
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
Published in Human molecular genetics (01.12.2018)
Published in Human molecular genetics (01.12.2018)
Get full text
Journal Article
Corrigendum: Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?
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
Published in Frontiers in cardiovascular medicine (24.01.2018)
Published in Frontiers in cardiovascular medicine (24.01.2018)
Get full text
Journal Article
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia
Chen, Ying-Zhang, Friedman, Jennifer R., Chen, Dong-Hui, Chan, Guy C.-K., Bloss, Cinnamon S., Hisama, Fuki M., Topol, Sarah E., Carson, Andrew R., Pham, Phillip H., Bonkowski, Emily S., Scott, Erick R., Lee, Janel K., Zhang, Guangfa, Oliveira, Glenn, Xu, Jian, Scott-Van Zeeland, Ashley A., Chen, Qi, Levy, Samuel, Topol, Eric J., Storm, Daniel, Swanson, Phillip D., Bird, Thomas D., Schork, Nicholas J., Raskind, Wendy H., Torkamani, Ali
Published in Annals of neurology (01.04.2014)
Published in Annals of neurology (01.04.2014)
Get full text
Journal Article
Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder
Jones, Marilyn C., Topol, Sarah E., Rueda, Manuel, Oliveira, Glenn, Phillips, Tierney, Spencer, Emily G., Torkamani, Ali
Published in Genetics in medicine (01.10.2017)
Published in Genetics in medicine (01.10.2017)
Get full text
Journal Article
A genome sequencing program for novel undiagnosed diseases
Bloss, Cinnamon S., Zeeland, Ashley A. Scott-Van, 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
Published in Genetics in medicine (01.12.2015)
Published in Genetics in medicine (01.12.2015)
Get full text
Journal Article