A feasibility study of colorectal cancer diagnosis via circulating tumor DNA derived CNV detection

por Molparia, Bhuvan, Oliveira, Glenn, Wagner, Jennifer L., Spencer, Emily G., Torkamani, Ali
Publicado 2018

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

Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson’s disease

por Molparia, Bhuvan, Schrader, Brian N., Cohen, Eli, Wagner, Jennifer L., Gupta, Sandeep R., Gould, Sherrie, Hwynn, Nelson, Spencer, Emily G., 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

Validation of a genetic risk score for atrial fibrillation: A prospective multicenter cohort study

por Muse, Evan D., Wineinger, Nathan E., Spencer, Emily G., Peters, Melissa, Henderson, Riley, Zhang, Yunyue, Barrett, Paddy M., Rivera, Steven P., Wohlgemuth, Jay G., Devlin, James J., Shiffman, Dov, Topol, Eric J.
Publicado 2018

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

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

por Scott, Eric M., Halees, Anason, Itan, Yuval, Spencer, Emily G., He, Yupeng, Azab, Mostafa Abdellateef, Gabriel, Stacey B., Belkadi, Aziz, Boisson, Bertrand, Abel, Laurent, Clark, Andrew G., Alkuraya, Fowzan S., Casanova, Jean-Laurent, Gleeson, Joseph G.
Publicado 2016

Impact of polygenic risk communication: an observational mobile application-based coronary artery disease study

por Muse, Evan D., Chen, Shang-Fu, Liu, Shuchen, Fernandez, Brianna, Schrader, Brian, Molparia, Bhuvan, León, André Nicolás, Lee, Raymond, Pubbi, Neha, Mejia, Nolan, Ren, Christina, El-kalliny, Ahmed, Prado Montes de Oca, Ernesto, Aguilar, Hector, Ghoshal, Arjun, Dias, Raquel, Evans, Doug, Chen, Kai-Yu, Zhang, Yunyue, Wineinger, Nathan E., Spencer, Emily G., Topol, Eric J., Torkamani, Ali
Publicado 2022