Analytic validation and clinical utilization of the comprehensive genomic profiling test, GEM ExTra(®)

por White, Tracey, Szelinger, Szabolcs, LoBello, Janine, King, Amy, Aldrich, Jessica, Garinger, Nathan, Halbert, Matthew, Richholt, Ryan F., Mastrian, Stephen D., Babb, Cody, Ozols, Audrey A., Goodman, Laurie J., Basu, Gargi D., Royce, Thomas
Publicado 2021

Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers

por Huentelman, Matthew J., Piras, Ignazio S., Siniard, Ashley L., De Both, Matthew D., Richholt, Ryan F., Balak, Chris D., Jamshidi, Pouya, Bigio, Eileen H., Weintraub, Sandra, Loyer, Emmaleigh T., Mesulam, M.-Marsel, Geula, Changiz, Rogalski, Emily J.
Publicado 2018

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

por Moskowitz, Abby M., Belnap, Newell, Siniard, Ashley L., Szelinger, Szabolcs, Claasen, Ana M., Richholt, Ryan F., De Both, Matt, Corneveaux, Jason J., Balak, Chris, Piras, Ignazio S., Russell, Megan, Courtright, Amanda L., Rangasamy, Sampath, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matt J., Schrauwen, Isabelle
Publicado 2016