Early life seizures and epileptic spasms in STXBP1-related disorders

por Thalwitzer, Kim M, Xian, Julie, deCampo, Danielle, Parthasarathy, Shridhar, Magielski, Jan, Sullivan, Katie Rose, Goss, James, Rigby, Charlene Son, Boland, Michael, Prosser, Ben, Ruggiero, Sarah M, Syrbe, Steffen, Helbig, Ingo
Publicado 2023

A disease concept model for STXBP1‐related disorders

por Sullivan, Katie R., Ruggiero, Sarah M., Xian, Julie, Thalwitzer, Kim M., Ali, Rahma, Stewart, Sydni, Cosico, Mahgenn, Steinberg, Jackie, Goss, James, Pfalzer, Anna C., Horning, Kyle J., Weitzel, Nicole, Corey, Sydney, Conway, Laura, Rigby, Charlene Son, Bichell, Terry Jo, Helbig, Ingo
Publicado 2023

Delineating clinical and developmental outcomes in STXBP1-related disorders

por Xian, Julie, Thalwitzer, Kim Marie, McKee, Jillian, Sullivan, Katie Rose, Brimble, Elise, Fitch, Eryn, Toib, Jonathan, Kaufman, Michael C., deCampo, Danielle, Cunningham, Kristin, Pierce, Samuel R., Goss, James, Rigby, Charlene Son, Syrbe, Steffen, Boland, Michael, Prosser, Ben, Fitter, Nasha, Ruggiero, Sarah M., Helbig, Ingo
Publicado 2023

Delineating clinical and developmental outcomes in STXBP1-related disorders

por Xian, Julie, Thalwitzer, Kim Marie, McKee, Jillian, Sullivan, Katie Rose, Brimble, Elise, Fitch, Eryn, Toib, Jonathan, Kaufman, Michael C, deCampo, Danielle, Cunningham, Kristin, Pierce, Samuel R, Goss, James, Rigby, Charlene Son, Syrbe, Steffen, Boland, Michael, Prosser, Benjamin, Fitter, Nasha, Ruggiero, Sarah M, Helbig, Ingo
Publicado 2023

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

por Owen, Mallory J., Lefebvre, Sebastien, Hansen, Christian, Kunard, Chris M., Dimmock, David P., Smith, Laurie D., Scharer, Gunter, Mardach, Rebecca, Willis, Mary J., Feigenbaum, Annette, Niemi, Anna-Kaisa, Ding, Yan, Van Der Kraan, Luca, Ellsworth, Katarzyna, Guidugli, Lucia, Lajoie, Bryan R., McPhail, Timothy K., Mehtalia, Shyamal S., Chau, Kevin K., Kwon, Yong H., Zhu, Zhanyang, Batalov, Sergey, Chowdhury, Shimul, Rego, Seema, Perry, James, Speziale, Mark, Nespeca, Mark, Wright, Meredith S., Reese, Martin G., De La Vega, Francisco M., Azure, Joe, Frise, Erwin, Rigby, Charlene Son, White, Sandy, Hobbs, Charlotte A., Gilmer, Sheldon, Knight, Gail, Oriol, Albert, Lenberg, Jerica, Nahas, Shareef A., Perofsky, Kate, Kim, Kyu, Carroll, Jeanne, Coufal, Nicole G., Sanford, Erica, Wigby, Kristen, Weir, Jacqueline, Thomson, Vicki S., Fraser, Louise, Lazare, Seka S., Shin, Yoon H., Grunenwald, Haiying, Lee, Richard, Jones, David, Tran, Duke, Gross, Andrew, Daigle, Patrick, Case, Anne, Lue, Marisa, Richardson, James A., Reynders, John, Defay, Thomas, Hall, Kevin P., Veeraraghavan, Narayanan, Kingsmore, Stephen F.
Publicado 2022