Channel:  Simons Foundation Autism Research Initiative (SFARI)

280 Articles

Indexcov: fast coverage quality control for whole-genome sequencing
Pedersen, B. S., Collins, R. L., Talkwoski, M. E., Quinlan, A. R.
10.1101/148296 — Posted: 2017-06-09
Native KCC2 Interactome Reveals PACSIN1 As A Critical Regulator Of Synaptic Inhibition
Mahadevan, V., Khademullah, C. S., Dargaei, Z., Chevrier, J., Uvarov, P., Kwan, J., Bagshaw, R. D., Pawson, T., Emili, A., De Koninck, Y., Anggono, V., Airaksinen, M., Woodin, M. A.
10.1101/142265 — Posted: 2017-05-25
De novo indels within introns contribute to ASD incidence
Munoz, A., Yamrom, B., Lee, Y.-h., Andrews, P., Marks, S., Lin, K.-T., Wang, Z., Krainer, A. R., Darnell, R. B., Wigler, M., Iossifov, I.
10.1101/137471 — Posted: 2017-05-24
Damaging Mutations are Associated with Diminished Motor Skills and IQ in Children on the Autism Spectrum
Buja, A., Volfovsky, N., Krieger, A., Lord, C., Lash, A., Wigler, M., Iossifov, I.
10.1101/141200 — Posted: 2017-05-23
High-risk Autism Spectrum Disorder Utah pedigrees: a novel Shared Genomic Segments analysis.
Darlington, T., Bilder, D., Morgan, J., Jerominski, L., Rajamanickam, V., Sargent, R., Camp, N. J., Coon, H. H.
10.1101/134957 — Posted: 2017-05-09
Paternally inherited noncoding structural variants contribute to autism
Brandler, W. M., Antaki, D., Gujral, M., Kleiber, M. L., Maile, M. S., Hong, O., Chapman, T. R., Tan, S., Tandon, P., Pang, T., Tang, S. C., Vaux, K. K., Yang, Y., Harrington, E., Juul, S., Turner, D. J., Kingsmore, S. F., Gleeson, J. G., Kakaradov, B., Telenti, A., Venter, J. C., Corominas, R., Cormand, B., Rueda, I., Messer, K. S., Nievergelt, C. M., Arranz, M. J., Courchesne, E., Pierce, K., Muotri, A. R., Iakoucheva, L. M., Hervas, A., Corsello, C., Sebat, J.
10.1101/102327 — Posted: 2017-04-27
Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families
Werling, D. M., Brand, H., An, J.-Y., Stone, M. R., Glessner, J. T., Zhu, L., Collins, R. L., Dong, S., Layer, R. M., Markenscoff-Papadimitriou, E.-C., Farrell, A., Schwartz, G. B., Currall, B. B., Dea, J., Duhn, C., Erdman, C., Gilson, M., Handsaker, R. E., Kashin, S., Klei, L., Mandell, J. D., Nowakowski, T. J., Liu, Y., Pochareddy, S., Smith, L., Walker, M. F., Wang, H. Z., Waterman, M. J., He, X., Kriegstein, A. R., Rubenstein, J. L., Sestan, N., McCarroll, S. A., Neale, B. M., Coon, H., Willsey, A. J., Buxbaum, J. D., Daly, M. J., State, M. W., Quinlan, A., Marth, G. T., Roeder, K., Devli
10.1101/127043 — Posted: 2017-04-13
Exonic mosaic mutations contribute risk for autism spectrum disorder
Krupp, D. R., Barnard, R. A., Duffourd, Y., Evans, S., Mulqueen, R. M., Bernier, R., Riviere, J.-B., Fombonne, E., O'Roak, B. J.
10.1101/083428 — Posted: 2017-04-03
Brainwide Mapping Of Endogenous Serotonergic Transmission Via Chemogenetic-fMRI
Giorgi, A., Migliarini, S., Gritti, M., Galbusera, A., Maddaloni, G., De Luca, M. A., Tonini, R., Gozzi, A., Pasqualetti, M.
10.1101/122770 — Posted: 2017-04-03
Homozygous loss of autism-risk gene CNTNAP2 results in reduced local and long-range prefrontal functional connectivity
Liska, A., Bertero, A., Gomolka, R., Sabbioni, M., Galbusera, A., Barsotti, N., Panzeri, S., Scattoni, M. L., Pasqualetti, M., Gozzi, A.
10.1101/060335 — Posted: 2017-01-18

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