Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM1...

por Powis, Zöe, Hart, Alexa, Cherny, Sara, Petrik, Igor, Palmaer, Erika, Tang, Sha, Jones, Carolyn
Publicado 2017

Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing

por Shahmirzadi, Layla, Chao, Elizabeth C., Palmaer, Erika, Parra, Melissa C., Tang, Sha, Gonzalez, Kelly D. Farwell
Publicado 2014

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

por LaDuca, Holly, Stuenkel, A J, Dolinsky, Jill S., Keiles, Steven, Tandy, Stephany, Pesaran, Tina, Chen, Elaine, Gau, Chia-Ling, Palmaer, Erika, Shoaepour, Kamelia, Shah, Divya, Speare, Virginia, Gandomi, Stephanie, Chao, Elizabeth
Publicado 2014

When moments matter: Finding answers with rapid exome sequencing

por Powis, Zöe, Farwell Hagman, Kelly D., Blanco, Kirsten, Au, Margaret, Graham, John M., Singh, Kathryn, Gallant, Natalie, Randolph, Linda M., Towne, Meghan, Hunter, Jesse, Shinde, Deepali N., Palmaer, Erika, Schoenfeld, Brian, Tang, Sha
Publicado 2019