DIPG-45. Radiation induces a robust interferon response in Diffuse Midline Glioma (DMG), improving the potential for combination immunotherapy

por Minns, Hanna E, Padilla, Oscar, Wei, Hong-Jian, Webster-Carrion, Andrea, Tazhibi, Masih, McQuillan, Nicholas, Zhang, Xu, Yeh, Rebecca, Zhang, Zhiguo, Szalontay, Luca, Pavisic, Jovana, Garty, Guy, Garvin, James, Zacharoulis, Stergios, Canoll, Peter, Vanpouille-Box, Claire I, Menon, Vilas, Olah, Marta, Rabadan, Raul, Wu, Cheng-Chia, Gartrell, Robyn D
Publicado 2022

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

por Maia, Nuno, Ibarluzea, Nekane, Misra‐Isrie, Mala, Koboldt, Daniel C., Marques, Isabel, Soares, Gabriela, Santos, Rosário, Marcelis, Carlo L. M., Keski‐Filppula, Riikka, Guitart, Miriam, Gabau Vila, Elisabeth, Lehman, April, Hickey, Scott, Mori, Mari, Terhal, Paulien, Valenzuela, Irene, Lasa‐Aranzasti, Amaia, Cueto‐González, Anna Maria, Chhouk, Brian H., Yeh, Rebecca C., Neil, Jennifer E., Abu‐Libde, Bassam, Kleefstra, Tjitske, Elting, Mariet W., Császár, Andrea, Kárteszi, Judit, Bessenyei, Beáta, van Bokhoven, Hans, Jorge, Paula, van Hagen, Johanna M., de Brouwer, Arjan P. M.
Publicado 2022

Loss of Non-motor Kinesin KIF26A Causes Congenital Brain Malformations via Dysregulated Neuronal Migration and Axonal Growth as well as Apoptosis

por Qian, Xuyu, DeGennaro, Ellen M., Talukdar, Maya, Akula, Shyam K., Lai, Abbe, Shao, Diane D., Gonzalez, Dilenny, Marciano, Jack H., Smith, Richard S., Hylton, Norma K., Yang, Edward, Bazan, J. Fernando, Barrett, Lee, Yeh, Rebecca C., Hill, R Sean, Beck, Samantha, Otani, Aoi, Angad, Jolly, Mitani, Tadahiro, Posey, Jennifer E., Pehlivan, Davut, Calame, Daniel, Aydin, Hatip, Yesilbas, Osman, Parks, Kendall C., Argilli, Emanuela, England, Eleina, Im, Kiho, Taranath, Ajay, Scott, Hamish S., Barnett, Christopher P., Arts, Peer, Sherr, Elliott H., Lupski, James R., Walsh, Christopher A.
Publicado 2022

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

por Akula, Shyam K., Chen, Allen Y., Neil, Jennifer E., Shao, Diane D., Mo, Alisa, Hylton, Norma K., DiTroia, Stephanie, Ganesh, Vijay S., Smith, Richard S., O’Kane, Katherine, Yeh, Rebecca C., Marciano, Jack H., Kirkham, Samantha, Kenny, Connor J., Song, Janet H. T., Al Saffar, Muna, Millan, Francisca, Harris, David J., Murphy, Andrea V., Klemp, Kara C., Braddock, Stephen R., Brand, Harrison, Wong, Isaac, Talkowski, Michael E., O’Donnell-Luria, Anne, Lai, Abbe, Hill, Robert Sean, Mochida, Ganeshwaran H., Doan, Ryan N., Barkovich, A. James, Yang, Edward, Amrom, Dina, Andermann, Eva, Poduri, Annapurna, Walsh, Christopher A.
Publicado 2023

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

por Akula, Shyam K., Marciano, Jack H., Lim, Youngshin, Exposito-Alonso, David, Hylton, Norma K., Hwang, Grace H., Neil, Jennifer E., Dominado, Nicole, Bunton-Stasyshyn, Rosie K., Song, Janet H. T., Talukdar, Maya, Schmid, Aloisia, Teboul, Lydia, Mo, Alisa, Shin, Taehwan, Finander, Benjamin, Beck, Samantha G., Yeh, Rebecca C., Otani, Aoi, Qian, Xuyu, DeGennaro, Ellen M., Alkuraya, Fowzan S., Maddirevula, Sateesh, Cascino, Gregory D., Giannini, Caterina, Burrage, Lindsay C., Rosenfield, Jill A., Ketkar, Shamika, Clark, Gary D., Bacino, Carlos, Lewis, Richard A., Segal, Rosalind A., Bazan, J. Fernando, Smith, Kelly A., Golden, Jeffrey A., Cho, Ginam, Walsh, Christopher A.
Publicado 2023

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

por Picketts, David, Mirzaa, Ghayda, Yan, Keqin, Relator, Raissa, Timpano, Sara, Yalcin, Binnaz, Collins, Stephan, Ziegler, Alban, Pao, Emily, Oyama, Nora, Brischoux-Boucher, Elise, PIARD, Juliette, Monaghan, Kristin, Sacoto, Maria Guillen, Dobyns, William, Park, Kristen, Fernández-Mayoralas, Daniel, Fernández-Jaén, Alberto, Jayakar, Parul, Brusco, Alfredo, Antona, Vincenzo, Giorgio, Elisa, Kvarnung, Malin, Isidor, Bertrand, Conrad, Solène, Cogné, Benjamin, Deb, Wallid, Stuurman, K.E., Sterbova, Katalin, Smal, Noor, Weckhuysen, Sarah, Oegema, Renske, Innes, Micheil, Latsko, Maeson, Ben-Omran, Tawfeg, Yeh, Rebecca, Kruer, Michael, Bakhtiari, Somayeh, Papavasiliou, Antigone, Moutton, Sébastien, Nambot, Sophie, Chanprasert, Sirisak, Paolucci, Sarah, Miller, Kait, Burton, Barbara, Kim, Katherine, O’Heir, Emily, Bruwer, Zandre, Donald, Kirsten, Kleefstra, Tjitske, Goldstein, Amy, Angle, Brad, Bontempo, Kelly, Miny, Peter, Joset, Pascal, Demurger, Florence, Hobson, Emma, Pang, Lewis, Carpenter, Lori, Li, Dong, Bonneau, Dominique, Sadikovic, Bekim
Publicado 2023