Channel:  Simons Foundation Autism Research Initiative (SFARI)

280 Articles

Genoppi: an open-source software for robust and standardized integration of proteomic and genetic data
Pintacuda, G., Lassen, F. H., Hsu, Y.-H. H., Kim, A., Martin, J. M., Malolepsza, E., Lim, J. K., Fornelos, N., Eggan, K. C., Lage, K.
10.1101/2020.05.04.076034 — Posted: 2020-05-05
Multi-parametric analysis of 58 SYNGAP1 variants reveal impacts on GTPase signaling, localization and protein stability
Meili, F., Wei, W. J., Sin, W.-C., Dascalu, I., Callaghan, D. B., Rogic, S., Meyers, W. M., Pavlidis, P., Haas, K.
10.1101/2020.04.21.053686 — Posted: 2020-04-22
The Oft-Overlooked Massively Parallel Reporter Assay: Where, When, and Which Psychiatric Genetic Variants are Functional?
Mulvey, B., Lagunas, T., Dougherty, J. D.
10.1101/2020.02.02.931337 — Posted: 2020-03-23
CHD8 Suppression Impacts on Histone H3 Lysine 36 Trimethylation and Alters RNA Alternative Splicing.
Kerschbamer, E., Tripathi, T., Erdin, S., Salviato, E., Di Leva, F., Sebestyen, E., Arnoldi, M., Benelli, M., Gusella, J. F., Piazza, S., Demichelis, F., Talkowski, M. E., Ferrari, F., Biagioli, M.
10.1101/2020.03.14.992032 — Posted: 2020-03-16
Aberrant Sensory Encoding in Patients with Autism
Noel, J.-P., Zhang, L.-Q., Stocker, A., Angelaki, D.
10.1101/2020.03.04.976191 — Posted: 2020-03-05
Natural selection influenced the genetic architecture of brain structure, behavioral and neuropsychiatric traits
Wendt, F. R., Pathak, G. A., Overstreet, C., Tylee, D. S., Gelernter, J., Atkinson, E. G., Polimanti, R.
10.1101/2020.02.26.966531 — Posted: 2020-02-27
High-throughput single-cell functional elucidation of neurodevelopmental disease-associated genes reveals convergent mechanisms altering neuronal differentiation
Lalli, M. A., Avey, D., Dougherty, J. D., Milbrandt, J., Mitra, R. D.
10.1101/862680 — Posted: 2020-02-11
Recent ultra-rare inherited mutations identify novel autism candidate risk genes
Wilfert, A. B., Turner, T. N., Murali, S. C., Hsieh, P., Sulovari, A., Wang, T., Coe, B. P., Guo, H., Hoekzema, K., Bakken, T. E., Winterkorn, L. H., Evani, U. S., Byrska-Bishop, M., Earl, R. K., Bernier, R. A., The SPARK Consortium, , Zody, M. C., Eichler, E. E.
10.1101/2020.02.10.932327 — Posted: 2020-02-11
Genome-wide molecular effects of the neuropsychiatric 16p11 CNVs in an iPSC-to-iN neuronal model
Ward, T. R., Zhang, X., Leung, L. C., Zhou, B., Muench, K., Roth, J. G., Khechaduri, A., Plastini, M. J., Charlton, C., Pattni, R., Ho, S., Ho, M., Huang, Y., Hallmayer, J. F., Mourrain, P., Palmer, T. D., Urban, A. E.
10.1101/2020.02.09.940965 — Posted: 2020-02-10
Diminished cortical excitation and elevated inhibition during perceptual impairments in a mouse model of autism
Del Rosario, J., Speed, A., Arrowood, H., Motz, C., Pardue, M., Haider, B.
10.1101/657189 — Posted: 2020-02-09

RSS  Channel RSS