mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

por Garcia, Camila A. B., Carvalho, Simone C. S., Yang, Xiaoxu, Ball, Laurel L., George, Renee D., James, Kiely N., Stanley, Valentina, Breuss, Martin W., Thomé, Ursula, Santos, Marcelo V., Saggioro, Fabiano P., Neder Serafini, Luciano, Silva, Wilson A., Gleeson, Joseph G., Machado, Hélio R.
Publicado 2020

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

por Breuss, Martin W., Antaki, Danny, George, Renee D., Kleiber, Morgan, James, Kiely N., Ball, Laurel L., Hong, Oanh, Mitra, Ileena, Yang, Xiaoxu, Wirth, Sara A., Gu, Jing, Garcia, Camila A. B., Gujral, Madhusudan, Brandler, William M., Musaev, Damir, Nguyen, An, McEvoy-Venneri, Jennifer, Knox, Renatta, Sticca, Evan, Botello, Martha Cristina Cancino, Fenner, Javiera Uribe, Pérez, Maria Cárcel, Arranz, Maria, Moffitt, Andrea B., Wang, Zihua, Hervás, Amaia, Devinsky, Orrin, Gymrek, Melissa, Sebat, Jonathan, Gleeson, Joseph G.
Publicado 2019