Botulinum Neurotoxin A4 Has a 1000-Fold Reduced Potency Due to Three Single Amino Acid Alterations in the Protein Receptor Binding Domain

por Tepp, William H., Bradshaw, Marite, Gardner, Alexander P., Kaufman, Rebecca L., Barbieri, Joseph T., Pellett, Sabine
Publicado 2023

METB-09. GERMLINE PATHOGENIC VARIANTS IN 838 PEDIATRIC BRAIN TUMOR PATIENTS

por McQuaid, Shelly W, Kaufman, Rebecca, Corbett, Ryan J, Vaksman, Zalman, Bornhorst, Miriam, Brown, Miguel A, Guo, Yiran S, Zhu, Yuankun, Heath, Allison P, Storm, Phillip B, Resnick, Adam C, Waanders, Angela J, Cole, Kristina A, Rokita, Jo Lynne, Macfarland, Suzanne, Diskin, Sharon J
Publicado 2023

Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR...

por Stundon, Jennifer L, Ijaz, Heba, Gaonkar, Krutika S, Kaufman, Rebecca S, Jin, Run, Karras, Anastasios, Vaksman, Zalman, Kim, Jung, Corbett, Ryan J, Lueder, Matthew R, Miller, Daniel P, Guo, Yiran, Santi, Mariarita, Li, Marilyn, Lopez, Gonzalo, Storm, Phillip B, Resnick, Adam C, Waanders, Angela J, MacFarland, Suzanne P, Stewart, Douglas R, Diskin, Sharon J, Rokita, Jo Lynne, Cole, Kristina A
Publicado 2022

Germline pathogenic variants in 786 neuroblastoma patients

por Kim, Jung, Vaksman, Zalman, Egolf, Laura E., Kaufman, Rebecca, Evans, J. Perry, Conkrite, Karina L., Danesh, Arnavaz, Lopez, Gonzalo, Randall, Michael P., Dent, Maiah H., Farra, Lance M., Menghani, Neil, Dymek, Malwina, Desai, Heena, Hausler, Ryan, Auvil, Jaime Guidry, Gerhard, Daniela S., Hakonarson, Hakon, Maxwell, Kara N., Cole, Kristina A., Pugh, Trevor J., Bosse, Kristopher R., Khan, Javed, Wei, Jun S., Maris, John M., Stewart, Douglas R., Diskin, Sharon J.
Publicado 2023

OpenPBTA: The Open Pediatric Brain Tumor Atlas

por Shapiro, Joshua A., Gaonkar, Krutika S., Spielman, Stephanie J., Savonen, Candace L., Bethell, Chante J., Jin, Run, Rathi, Komal S., Zhu, Yuankun, Egolf, Laura E., Farrow, Bailey K., Miller, Daniel P., Yang, Yang, Koganti, Tejaswi, Noureen, Nighat, Koptyra, Mateusz P., Duong, Nhat, Santi, Mariarita, Kim, Jung, Robins, Shannon, Storm, Phillip B., Mack, Stephen C., Lilly, Jena V., Xie, Hongbo M., Jain, Payal, Raman, Pichai, Rood, Brian R., Lulla, Rishi R., Nazarian, Javad, Kraya, Adam A., Vaksman, Zalman, Heath, Allison P., Kline, Cassie, Scolaro, Laura, Viaene, Angela N., Huang, Xiaoyan, Way, Gregory P., Foltz, Steven M., Zhang, Bo, Poetsch, Anna R., Mueller, Sabine, Ennis, Brian M., Prados, Michael, Diskin, Sharon J., Zheng, Siyuan, Guo, Yiran, Kannan, Shrivats, Waanders, Angela J., Margol, Ashley S., Kim, Meen Chul, Hanson, Derek, Van Kuren, Nicholas, Wong, Jessica, Kaufman, Rebecca S., Coleman, Noel, Blackden, Christopher, Cole, Kristina A., Mason, Jennifer L., Madsen, Peter J., Koschmann, Carl J., Stewart, Douglas R., Wafula, Eric, Brown, Miguel A., Resnick, Adam C., Greene, Casey S., Rokita, Jo Lynne, Taroni, Jaclyn N.
Publicado 2023