Funded Publications

Below is a list of publications and preprints generated with SFARI support. The list includes papers from SFARI-funded investigators as well as from researchers who used genetic/phenotypic data or biospecimens from the Simons Simplex Collection (SSC), Simons Searchlight, Simons Foundation Powering Autism Research for Knowledge (SPARK), the Autism Inpatient Collection or Autism BrainNet.

1182 Articles

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Moreno-De-Luca D., SGENE Consortium, Mulle J.G., Simons Simplex Collection Genetics Consortium, Kaminsky E.B., Sanders S., GeneSTAR, Myers S.M., Adam M.P., Pakula A.T., Eisenhauer N.J., Uhas K., Weik L., Guy L., Care M.E., Morel C.F., Boni C., Salbert B.A., Chandrareddy A., Demmer L.A., Chow E.W., Surti U., Aradhya S., Pickering D.L., Golden D.M., Sanger W.G., Aston E., Brothman A.R., Gliem T.J., Thorland E.C., Ackley T., Iyer R., Huang S., Barber J.C., Crolla J.A., Warren S., Martin C. L., Ledbetter D.

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.

Noor A., Whibley A., Marshall C.R., Gianakopoulos P.J., Piton A., Carson A.R., Orlic-Milacic M., Lionel A.C., Sato D., Pinto D., Drmic I., Noakes C., Senman L., Zhang X., Mo R., Gauthier J., Crosbie J., Pagnamenta A.T., Munson J., Estes A.M., Fiebig A., Franke A., Schreiber S., Stewart A.F.R., Roberts R., McPherson R., Guter S.J., Cook E. H., Dawson G., Schellenberg G.D., Battaglia A., Maestrini E., Jeng L., Hutchison T., Rajcan-Separovic E., Chudley A.E., Lewis S.M.E., Liu X., Holden J.J., Fernandez B., Zwaigenbaum L., Bryson S.E., Roberts W., Szatmari P., Gallagher L., Stratton M.R., Gecz J., Brady A.F., Schwartz C.E., Schachar R.J., Monaco A., Rouleau G., Hui C-C., Lucy Raymond F., Scherer S. W., Vincent J.B.

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.

Maestrini E., Pagnamenta A.T., Lamb J.A., Bacchelli E., Sykes N.H., Sousa I., Toma C., Barnby G., Butler H., Winchester L., Scerri T.S., Minopoli F., Reichert J., Cai G., Buxbaum J., Korvatska O., Schellenberg G.D., Dawson G., Bildt A.D., Minderaa R.B., Mulder E.J., Morris A.P., Bailey A.J., Monaco A.

Research Highlights
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