Channel:  Simons Foundation Autism Research Initiative (SFARI)

280 Articles

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Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants
Einson, J., Glinos, D., Boerwinkle, E., Castaldi, P., Darbar, D., de Andrade, M., Ellinor, P., Fornage, M., Gabriel, S., Germer, S., Gibbs, R., Hersh, C., Johnsen, J., Kaplan, R., Konkle, B., Kooperberg, C., Nassir, R., Loos, R. J. F., Meyers, D. A., Mitchell, B. D., Psaty, B., Vasan, R. S., Rich, S. S., Rienstra, M., Rotter, J. I., Saferali, A., Shoemaker, M. B., Silverman, E., Smith, A. V., Mohammadi, P., Castel, S. E., Iossifov, I., Lappalainen, T.
10.1101/2023.01.31.526505 — Posted: 2023-01-31
HAT: de novo variant calling for highly accurate short-read and long-read sequencing data
Ng, J. K., Turner, T. N.
10.1101/2023.01.27.525940 — Posted: 2023-01-28
Quantifying constraint in the human mitochondrial genome
Lake, N. J., Liu, W., Battle, S. L., Laricchia, K. M., Tiao, G., Puiu, D., Compton, A. G., Cowie, S., Christodoulou, J., Thorburn, D. R., Zhao, H., Arking, D. E., Sunyaev, S. R., Lek, M.
10.1101/2022.12.16.520778 — Posted: 2023-01-27
ASD modelling in organoids reveals imbalance of excitatory cortical neuron subtypes during early neurogenesis
Jourdon, A., Wu, F., Mariani, J., Capauto, D., Norton, S., Tomasini, L., Amiri, A., Suvakov, M., Schreiner, J., Jang, Y., Panda, A., Nguyen, C. K., Cummings, E. M., Han, G., Powell, K., Szekely, A., McPartland, J. C., Pelphrey, K., Chawarska, K., Ventola, P., Abyzov, A., Vaccarino, F. M.
10.1101/2022.03.19.484988 — Posted: 2023-01-12
Epithelia delimits glial apical polarity against mechanical shear to maintain glia-neuron architecture
Martin, C. G., Bent, J. S., Singhvi, A.
10.1101/2022.12.26.521704 — Posted: 2022-12-27
Systematic multi-trait AAV capsid engineering for efficient gene delivery
Eid, F.-E., Chen, A. T., Chan, K. Y., Huang, Q., Zheng, Q., Tobey, I. G., Pacouret, S., Brauer, P. P., Keyes, C., Powell, M., Johnston, J., Zhao, B., Lage, K., Tarantal, A. F., Chan, Y. A., Deverman, B. E.
10.1101/2022.12.22.521680 — Posted: 2022-12-22
Robust hierarchically organized whole-brain patterns of dysconnectivity in schizophrenia spectrum disorders observed after Personalized Intrinsic Network Topography
Dickie, E. W., Shahab, S., Hawco, C., Miranda, D., Herman, G., Argyelan, M., Ji, J. L. W., Jeyachandra, J., Anticevic, A., Malhotra, A. K., Voineskos, A. N.
10.1101/2022.12.13.520333 — Posted: 2022-12-15
An in vivo platform for rebuilding functional neocortical tissue
Quezada, A., Ward, C., Bader, E. R., Zolotavin, P., Altun, E., Hong, S., Killian, N., Xie, C., Batista-Brito, R., Hebert, J. M.
10.1101/2022.12.09.519776 — Posted: 2022-12-11
Transcriptional diversity in synaptic gene sets is sufficient to discriminate cortical neuronal identity
Roig Adam, A., Martinez Lopez, J., van der Spek, S., The SYNGO consortium, , Sullivan, P. F., Smit, A., Verhage, M., Hjerling-Leffler, J.
10.1101/2022.11.25.517899 — Posted: 2022-11-25
Deficits in integrative NMDA receptors caused by Grin1 disruption can be rescued in adulthood
Venkatesan, S., Binko, M. A., Mielnik, C. A., Ramsey, A. J., Lambe, E. K.
10.1101/2022.11.22.517556 — Posted: 2022-11-23

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