Channel:  Simons Foundation Autism Research Initiative (SFARI)

280 Articles

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy
Voisin, N., Schnur, R. E., Douzgou, S., Hiatt, S. M., Rustad, C. F., Brown, N. J., Earl, D. L., Keren, B., Levchenko, O., Geuer, S., Amor, D., Brusco, A., Bebin, E. M., Cappuccio, G., Charrow, J., Chatron, N., Cooper, G. M., Dadali, E., Delafontaine, J., Del Giudice, E., Douglas, G., Funari, T., Giannuzzi, G., Guex, N., Heron, D., Holla, O. L., Hurst, A. C. E., Juusola, J., Kronn, D., Lavrov, A., Lee, C., Merckoll, E., Mikhaleva, A., Norman, J., Pradervand, S., Sanders, V., Sirchia, F., Takenouchi, T., Tanaka, A. J., Taska-Tench, H., Tonne, E., Tveten, K., Vitiello, G., Uehara, T., Nava, C., Y
10.1101/693937 — Posted: 2019-07-17
The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients
Giannuzzi, G., Schmidt, P. J., Porcu, E., Willemin, G., Munson, K. M., Nuttle, X., Earl, R., Chrast, J., Hoekzema, K., Risso, D., Mannik, K., De Nittis, P., Baratz, E. D., 16p11.2 Consortium, , Herault, Y., Gao, X., Philpott, C. C., Bernier, R. A., Kutalik, Z., Fleming, M. D., Eichler, E. E., Reymond, A.
10.1101/693952 — Posted: 2019-07-05
Systematic phenomics analysis of ASD-associated genes reveals shared functions and parallel networks underlying reversible impairments in habituation learning
McDiarmid, T. A., Belmadani, M., Liang, j., Meili, F., Mathews, E. A., Mullen, G. P., Rand, J. B., Mizumoto, K., Haas, K., Pavlidis, P., Rankin, C. H.
10.1101/687194 — Posted: 2019-06-30
Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels
Heyne, H., Palmer, D., Iqbal, S., Baez-Nieto, D., Brunklaus, A., the Epi25 Collaborative, , Johannesen, K., Lauxmann, S., Lemke, J., Moller, R., Perez-Palma, E., Scholl, U., Syrbe, S., Lerche, H., May, P., Lal, D., Campbell, A., Pan, J., Wang, H.-R., Daly, M.
10.1101/671453 — Posted: 2019-06-14
Mutually exclusive autism mutations point to the circadian clock and PI3K signaling pathways
Manning, H., O'Roak, B. J., Babur, O.
10.1101/653527 — Posted: 2019-05-30
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J.-Y., Peng, M., Collins, R. L., Grove, J., Klei, L., Stevens, C., Reichert, J., Mulhern, M., Artomov, M., Gerges, S., Sheppard, B., Xu, X., Bhaduri, A., Norman, U., Brand, H., Schwartz, G., Nguyen, R., Guerrero, E., Dias, C., Aleksic, B., Anney, R. J., Barbosa, M., Bishop, S., Brusco, A., Bybjerg-Grauholm, J., Carracedo, A., Chan, M. C. Y., Chiocchetti, A., Chung, B., Coon, H., Cuccaro, M., Curro, A., Dalla Bernardina, B., Doan, R., Domenici, E., Dong, S., Fallerini, C., Fernandez-Prieto, M., Ferrero, G. B., Freit
10.1101/484113 — Posted: 2019-04-24
A machine-learning approach for accurate detection of copy-number variants from exome sequencing
Pounraja, V. K., Jensen, M., Jayakar, G., Kelkar, N., Girirajan, S.
10.1101/460931 — Posted: 2019-04-19
Single-cell analysis of Foxp1-driven mechanisms essential for striatal development
Anderson, A. G., Kulkarni, A., Harper, M., Konopka, G.
10.1101/611780 — Posted: 2019-04-18
A hundred genes implicated in intellectual disability and autism regulate habituation learning and reveal an opposing role for Ras-MAPK signaling in inhibitory and excitatory neurons
Fenckova, M., Blok, L. E. R., Asztalos, L., Cizek, P., Goodman, D. P., Singgih, E. L., Glennon, J. C., IntHout, J., Zweier, C., Eichler, E. E., von Reyn, C. R., Bernier, R., Asztalos, Z., Schenck, A.
10.1101/285981 — Posted: 2019-04-13
Impaired KCC2 phosphorylation leads to neuronal network dysfunction and neurodevelopmental pathogenesis.
Pisella, L., Gaiarsa, J.-L., Diabira, D., Zhang, J., Khalilov, I., Duan, J., Kahle, K., Medyna, I.
10.1101/606566 — Posted: 2019-04-12

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