Now showing items 1-5 of 5

    • Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci 

      Sanders, S. J.; He, X.; Willsey, A. J.; Ercan-Sencicek, A. G.; Samocha, K. E.; Cicek, A. E.; Murtha, M. T.; Bal, V. H.; Bishop, S. L.; Dong, S.; Goldberg, A. P.; Jinlu, C.; Keaney, J. F.; Keaney III, J. F.; Mandell, J. D.; Moreno-De-Luca, D.; Poultney, C. S.; Robinson, E. B.; Smith L.; Solli-Nowlan, T.; Su, M. Y.; Teran, N. A.; Walker, M. F.; Werling, D. M.; Beaudet, A. L.; Cantor, R. M.; Fombonne, E.; Geschwind, D. H.; Grice, D. E.; Lord, C.; Lowe, J. K.; Mane, S. M.; Martin, D.M.; Morrow, E. M.; Talkowski, M. E.; Sutcliffe, J. S.; Walsh, C. A.; Yu, T. W.; Ledbetter, D. H.; Martin, C. L.; Cook, E. H.; Buxbaum, J. D.; Daly, M. J.; Devlin, B.; Roeder, K.; State, M. W. (Cell Press, 2015)
      Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, ...
    • 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, ...
    • De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder 

      Dong, S.; Walker, M.F.; Carriero, N.J.; DiCola, M.; Willsey, A.; Ye, A.Y.; Waqar, Z.; Gonzalez L.E.; Overton J.D.; Frahm, S.; Keaney J.F.; III, Teran, N.A.; Dea J.; Mandell J.D.; HusBal V.; Sullivan, C.A.; DiLullo, N.M.; Khalil, R.O.; Gockley J.; Yuksel, Z.; Sertel, S.M.; Ercan-Sencicek, A.G.; Gupta, A.R.; Mane, S.M.; Sheldon, M.; Brooks, A.I.; Roeder, K.; Devlin, B.; State, M.W.; Wei L.; Sanders, S.J. (Elsevier, 2014)
      Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single-nucleotide variants (SNVs) to autism spectrum disorder (ASD). However, challenges in the reliable detection of de ...
    • De novo missense variants disrupting protein–protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types 

      Chen, S.; Wang, J.; Çiçek, Ercüment; Roeder, K.; Yu, H.; Devlin, B. (BioMed Central, 2020)
      Background: Whole-exome sequencing studies have been useful for identifying genes that, when mutated, affect risk for autism spectrum disorder (ASD). Nonetheless, the association signal primarily arises from de novo ...
    • 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 ...