VHL mosaicism: the added value of multi-tissue analysis

por Oldfield, Leslie E., Grzybowski, Jessica, Grenier, Sylvie, Chao, Elizabeth, Downs, Gregory S., Farncombe, Kirsten M., Stockley, Tracy L., Mete, Ozgur, Kim, Raymond H.
Publicado 2022

Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing

por Horton, Carolyn, Hoang, Lily, Zimmermann, Heather, Young, Colin, Grzybowski, Jessica, Durda, Kate, Vuong, Huy, Burks, David, Cass, Ashley, LaDuca, Holly, Richardson, Marcy E., Harrison, Steven, Chao, Elizabeth C., Karam, Rachid
Publicado 2023

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

por Horton, Carolyn, Cass, Ashley, Conner, Blair R., Hoang, Lily, Zimmermann, Heather, Abualkheir, Nelly, Burks, David, Qian, Dajun, Molparia, Bhuvan, Vuong, Huy, LaDuca, Holly, Grzybowski, Jessica, Durda, Kate, Pilarski, Robert, Profato, Jessica, Clayback, Katherine, Mahoney, Martin, Schroeder, Courtney, Torres-Martinez, Wilfredo, Elliott, Aaron, Chao, Elizabeth C., Karam, Rachid
Publicado 2022