Channel:  Simons Foundation Autism Research Initiative (SFARI)

280 Articles

Somatosensory processing deficits and altered cortico-hippocampal connectivity in Shank3b-/- mice
Balasco, L., Pagani, M., Pangrazzi, L., Schlosman, E., Mattioni, L., Galbusera, A., Provenzano, G., Gozzi, A., Bozzi, Y.
10.1101/2021.02.28.433258 — Posted: 2021-02-28
Effects of early geometric confinement on the transcriptomic profile of human cerebral organoids
Sen, D., Voulgaropoulos, A., Keung, A. J.
10.1101/2021.02.18.431674 — Posted: 2021-02-19
Customized de novo mutation detection for any variant calling pipeline: SynthDNM
Lian, A., Guevara, J., Xia, K., Sebat, J.
10.1101/2021.02.10.427198 — Posted: 2021-02-10
NeuroSCORE: A Genome-wide Omics-Based Model to Identify Candidate Disease Genes of the Central Nervous System
Davis, K. W., Bilancia, C. G., Martin, M., Vanzo, R., Rimmasch, M., Hom, Y., Uddin, M., Serrano, M.
10.1101/2021.02.04.429640 — Posted: 2021-02-06
Paradoxical hyperexcitability from NaV1.2 sodium channel loss in neocortical pyramidal cells
Spratt, P. W., Ben-Shalom, R., Sahagun, A., Keeshen, C. M., Sanders, S. J., Bender, K. J.
10.1101/2021.02.02.429423 — Posted: 2021-02-02
SFARI Genes and where to find them; classification modelling to identify genes associated with Autism Spectrum Disorder from RNA-seq data
Navarro, M., Simpson, I.
10.1101/2021.01.29.428754 — Posted: 2021-02-01
Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases
Marcogliese, P. C., Deal, S. L., Andrews, J., Harnish, J. M., Bhavana, V. H., Graves, H. K., Jangam, S., Luo, X., Liu, N., Bei, D., Chao, Y.-H., Hull, B., Lee, P.-T., Pan, H., Longley, C. M., Chao, H.-T., Chung, H., Haelterman, N. A., Kanca, O., Manivannan, S. N., Rossetti, L. Z., Gerard, A., Schwaibold, E. M. C., Guerrini, R., Vetro, A., England, E., Murali, C. N., Barakat, T. S., van Dooren, M. F., Wilke, M., van Slegtenhorst, M., Lesca, G., Sabatier, I., Chatron, N., Brownstein, C. A., Madden, J. A., Agrawal, P. B., Keller, R., Pavinato, L., Brusco, A., Rosenfeld, J. A., Marom, R., Wangler
10.1101/2020.12.30.424813 — Posted: 2021-02-01
Whole-genome analysis of de novo and polymorphic retrotransposon insertions in Autism Spectrum Disorder
Borges Monroy, R., Chu, C., Dias, C., Choi, J., Lee, S., Gao, Y., Shin, T., Park, P. J., Walsh, C. A., Lee, E. A.
10.1101/2021.01.29.428895 — Posted: 2021-01-31
Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro
Mossink, B., Verboven, A. H. A., van Hugte, E. J. H., Klein Gunnewiek, T. M., Parodi, G., Linda, K., Schoenmaker, C., Kleefstra, T., Kozicz, T., van Bokhoven, H., Schubert, D., Nadif Kasri, N., Frega, M.
10.1101/2021.01.20.427439 — Posted: 2021-01-21
Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice
Haigh, J. L., Adhikari, A., Copping, N. A., Stradleigh, T. W., Wade, A. A., Catta-Preta, R. F., Su-Feher, L., Zdilar, I., Morse, S. J., Fenton, T. A., Nguyen, A. B., Quintero, D. M., Agezew, S., Sramek, M., Carter, J. L., Gompers, A., Lambert, J. T., Canales, C. P., Pennacchio, L., Visel, A., Dickel, D., Silverman, J. L., Nord, A. S.
10.1101/766634 — Posted: 2021-01-13

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