Channel:  Simons Foundation Autism Research Initiative (SFARI)

280 Articles

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies
Lowther, C., Valkanas, E., Giordano, J. L., Wang, H. Z., Currall, B. B., O'Keefe, K., Pierce-Hoffman, E., Kurtas, N. E., Whelan, C. W., Hao, S. P., Weisburd, B. W., Jalili, V., Fu, J., Wong, I., Collins, R. L., Zhao, X., Austin-Tse, C. A., Evangelista, E., Lemire, G., Aggarwal, V., Lucente, D., Gauthier, L. D., Tolonen, C., Sahakian, N., Stevens, C., An, J.-Y., Dong, S., Norton, M. E., MacKenzie, T., Devlin, B., Gilmore, K., Powell, B., Brandt, A., Vetrini, F., DiVito, M., Sanders, S. J., MacArthur, D. G., Hodge, J. C., O'Donnell-Luria, A., Rehm, H., Vora, N., Levy, B., Brand, H., Wapner, R.
10.1101/2020.08.12.248526 — Posted: 2022-09-23
Dysregulation of mTOR Signaling Mediates Common Neurite and Migration Defects in Both Idiopathic and 16p11.2 Deletion Autism Neural Precursor Cells
Prem, S., Dev, B., Peng, C., Mehta, M., Alibutud, R., Connacher, R. J., St. Thomas, M., Zhou, X., Matteson, P., Xing, J., Millonig, J., DiCicco-Bloom, E.
10.1101/2022.09.17.508382 — Posted: 2022-09-20
Single-cell brain organoid screening identifies developmental defects in autism
Li, C., Fleck, J. S., Martins-Costa, C., Burkard, T. R., Stuempflen, M., Vertesy, A., Peer, A. M., Esk, C., Elling, U., Kasprian, G., Corsini, N. S., Treutlein, B., Knoblich, J. A.
10.1101/2022.09.15.508118 — Posted: 2022-09-15
GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK Biobank
Babadi, M., Fu, J. M., Lee, S. K., Smirnov, A. N., Gauthier, L. D., Walker, M., Benjamin, D. I., Karczewski, K. J., Wong, I., Collins, R. L., Sanchis-Juan, A., Brand, H., Banks, E., Talkowski, M. E.
10.1101/2022.08.25.504851 — Posted: 2022-08-26
Rapid specification of human pluripotent stem cells to functional astrocytes
Lendemeijer, B., Unkel, M., Mossink, B., Hijazi, S., Sampedro, S. G., Shpak, G., Slump, D. E., van den Hout, M. C. G. N., van IJcken, W. F. J., Bindels, E. M. J., Hoogendijk, W. J. G., Nadif Kasri, N., de Vrij, F. M. S., Kushner, S. A.
10.1101/2022.08.25.505166 — Posted: 2022-08-26
Epilepsy-related CDKL5 deficiency slows synaptic vesicle endocytosis in central nerve terminals
Kontaxi, C., Davenport, E. C., Kind, P. C., Cousin, M. A.
10.1101/2022.03.15.484308 — Posted: 2022-07-19
Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of MAPK3 and its contribution to variable NDD phenotypes
Liu, F., Liang, C., Li, Z., Zhao, S., Shangguan, S., Yuan, H., Yao, R., Qin, Z., Zhang, S., Zou, L., Gao, Z., Chen, Q., Wen, S., Peng, J., Yin, F., Chen, F., Qiu, X., Luo, J., Xie, Y., Lu, D., Zhang, Y., Xie, H., Wang, H., Cui, X., Wang, J., Huang, H., Liu, R., Sun, X., Chen, C., Wu, N., Liu, C., Shen, Y., Gusella, J. F., Chen, X.
10.1101/2022.07.10.498576 — Posted: 2022-07-11
Peripheral Auditory Nerve Impairment in a Mouse Model of Syndromic Autism
McChesney, N., Barth, J. L., Rumschlag, J. A., Tan, J., Harrington, A., Noble, K., McClaskey, C., Elvis, P., Vaena, S., Romeo, M., Harris, K. C., Cowan, C. W., Lang, H.
10.1101/2022.06.02.494499 — Posted: 2022-06-03
Ankyrin-B is lipid-modified by S-palmitoylation to promote dendritic membrane scaffolding of voltage-gated sodium channel Nav1.2 in neurons
Gupta, J. P., Jenkins, P. M.
10.1101/2022.06.01.494444 — Posted: 2022-06-02
Physical and functional convergence of the autism risk genes Scn2a and Ank2 in neocortical pyramidal cell dendrites
Nelson, A. D., Catalfio, A. M., Gupta, J. M., Min, L., Caballero-Floran, R. N., Dean, K. P., Elvira, C. C., Derderian, K. D., Kyoung, H., Sahagun, A., Sanders, S. J., Bender, K., Jenkins, P. M.
10.1101/2022.05.31.494205 — Posted: 2022-06-01

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