Channel:  Simons Foundation Autism Research Initiative (SFARI)

280 Articles

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Exons as units of phenotypic impact for truncating mutations in autism
Chiang, A. H., Chang, J., Wang, J., Vitkup, D.
10.1101/270850 — Posted: 2020-09-02
Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families
Whelan, C. W., Handsaker, R. E., Genovese, G., Kashin, S., Lek, M., Hughes, J., McElwee, J., Lenardo, M., MacArthur, D., McCarroll, S. A.
10.1101/2020.08.03.235358 — Posted: 2020-08-10
Bayesian estimation of cell-type-specific gene expression per bulk sample with prior derived from single-cell data
Wang, J., Roeder, K., Devlin, B.
10.1101/2020.08.05.238949 — Posted: 2020-08-06
Neuropsychiatric mutations delineate functional brain connectivity dimensions contributing to autism and schizophrenia
Moreau, C. A., Urchs, S., Kuldeep, K., Orban, P., Schramm, C., Dumas, G., Labbe, A., Huguet, G., Douard, E., Quirion, P.-O., Lin, A., Kushan, L., Grot, S., Luck, D., Mendrek, A., Potvin, S., Stip, E., Bourgeron, T., Evans, A. C., SimonsVIP Consortium, , Bearden, C. E., Bellec, P., Jacquemont, S.
10.1101/862615 — Posted: 2020-07-25
Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling
Amar, M., Pramod, A. B., Yu, N.-K., Herrera, V. M., Qiu, L. R., Moran-Losada, P., Zhang, P., Trujillo, C. A., Ellegood, J., Urresti, J., Chau, K., Diedrich, J., Chen, J., Gutierrez, J., Sebat, J., Ramanathan, D., Lerch, J. P., Yates, J. R., Muotri, A. R., Iakoucheva, L. M.
10.1101/2020.02.07.939256 — Posted: 2020-07-25
FOXP1 negatively regulates intrinsic excitability in D2 striatal projection neurons by promoting inwardly rectifying and leak potassium currents
Khandelwal, N., Cavalier, S., Rybalchenko, V., Kulkarni, A., Anderson, A. G., Konopka, G., Gibson, J. R.
10.1101/2020.07.21.213173 — Posted: 2020-07-21
Intrinsic excitation-inhibition imbalance affects medial prefrontal cortex differently in autistic men versus women
Trakoshis, S., Martinez-Canada, P., Rocchi, F., Canella, C., You, W., Chakrabarti, B., Ruigrok, A. N., Bullmore, E., Suckling, J., Markicevic, M., Zerbi, V., MRC AIMS Consortium, , Baron-Cohen, S., Gozzi, A., Lai, M.-C., Panzeri, S., Lombardo, M. V.
10.1101/2020.01.16.909531 — Posted: 2020-06-19
Dissecting Autism Genetic Risk Using Single-cell RNA-seq Data
Chen, S., Zhou, X., Byington, E., Bruce, S. L., Zhang, H., Shen, Y.
10.1101/2020.06.15.153031 — Posted: 2020-06-16
Cell-type-specific synaptic imbalance and disrupted homeostatic plasticity in cortical circuits of ASD-associated Chd8 haploinsufficient mice
Ellingford, R. A., Rabeshala de Meritens, E., Shaunak, R., Naybour, L., Basson, M. A., Andreae, L. C.
10.1101/2020.05.14.093187 — Posted: 2020-05-14
FMRP Links Optimal Codons to mRNA stability in Neurons
Shu, H. R., Donnard, E., Liu, B., Wang, R., Richter, J.
10.1101/801449 — Posted: 2020-05-08

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