A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function

por Lin, Amy Y., Henry, Shawna, Reissner, Carsten, Neupert, Christian, Kenny, Connor, Missler, Markus, Beffert, Uwe, Ho, Angela
Publicado 2019

Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain

por Ganz, Javier, Maury, Eduardo A., Becerra, Basheer, Bizzotto, Sara, Doan, Ryan N., Kenny, Connor J., Shin, Taehwan, Kim, Junho, Zhou, Zinan, Ligon, Keith L., Lee, Eunjung Alice, Walsh, Christopher A.
Publicado 2022

Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk

por Shin, Taehwan, Song, Janet H.T., Kosicki, Michael, Kenny, Connor, Beck, Samantha G., Kelley, Lily, Qian, Xuyu, Bonacina, Julieta, Papandile, Frances, Antony, Irene, Gonzalez, Dilenny, Scotellaro, Julia, Bushinsky, Evan M., Andersen, Rebecca E., Maury, Eduardo, Pennacchio, Len A., Doan, Ryan N., Walsh, Christopher A.
Publicado 2023

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