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.

2286 Articles

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.

Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.

Pagnamenta A.T., Bacchelli E., de Jonge M.V., Mirza G., Scerri T.S., Minopoli F., Chiocchetti A., Ludwig K.U., Hoffmann P., Paracchini S., Lowy E., Harold D.H., Chapman J.A., Klauck S.M., Poustka F., Houben R.H., Staal W.G., Ophoff R.A., O’Donovan M.C., Williams J., Nöthen M.M., Schulte-Körne G., Deloukas P., Ragoussis J., Bailey A.J., Maestrini E., Monaco A.

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