Now showing items 1-2 of 2

    • Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism 

      Satterstrom, F. K.; Kosmicki, J. A.; Wang, J.; Breen, M. S.; De Rubeis, S.; An, J. - Y.; Peng, M.; Collins, R.; Grove, J.; Klei, L.; Stevens, C.; Reichert, J.; Mulhern, M. S.; Artomov, M.; Gerges, S.; Sheppard, B.; Xu, X.; Bhaduri, A.; Norman, Utku; Brand, H.; Schwartz, G.; Nguyen, R.; Guerrero, E. E.; Dias, C.; Autism Sequencing Consortium; iPSYCH-Broad Consortium; Betancur, C; Cook, E; Gallagher, L; Gill, M; Sutcliffe, J; Thurm, A; Zwick, M; State, M; Çicek, A. Ercüment; Talkowski, M; Cutler, D; Devlin, B.; Sanders, S; Roeder, K.; Daly, M; Buxbaum, J. (Elsevier, 2020-02-06)
      We present the largest exome sequencing study ofautism spectrum disorder (ASD) to date (n = 35,584total samples, 11,986 with ASD). Using an enhancedanalytical framework to integratedenovoand case-control rare variation, ...
    • Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex 

      Werling, D. M.; Pochareddy, S.; Choi, J.; An, J.-Y.; Sheppard, B.; Peng, M.; Li, Z.; Dastmalchi, C.; Santpere, G.; Sousa, A. M. M.; Tebbenkamp, A. T. N.; Kaur, N.; Gulden, F. O.; Breen, M. S.; Liang, L.; Gilson, M. C.; Zhao, X.; Dong, S.; Klei, L.; Çiçek, A. Ercüment; Buxbaum, J. D.; Adle-Biassette, H.; Thomas, J.-L.; Aldinger, K. A.; O’Day, D. R.; Glass, I. A.; Zaitlen, N. A.; Talkowski, M. E.; Roeder, K.; State, M. W.; Devlin, B.; Sanders, S. J.; Sestan, N. (Elsevier, 2020-04)
      Gene expression levels vary across developmental stage, cell type, and region in the brain. Genomic variants also contribute to the variation in expression, and some neuropsychiatric disorder loci may exert their effects ...