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