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.

2082 Articles

An axis of genetic heterogeneity in autism is indexed by age at diagnosis and is associated with varying developmental and mental health profiles.

Zhang X., Grove J., Gu Y., Buus C.K., Nielsen L.K., Neufeld S.A.S., Koko M., Malawsky D.S., Wade E., Verhoef E., Gui A., Hegemann L., APEX Consortium, iPSYCH Autism Consortium, PGC-PTSD Consortium, Geschwind D., Wray N.R., Havdahl A., Ronald A., St Pourcain B., Robinson E., Bourgeron T., Baron-Cohen S., Børglum A.D., Martin H., Warrier V.

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Chen Y., Dawes R., Kim H.C., Ljungdahl A., Stenton S.L., Walker S., Lord J., Lemire G., Martin-Geary A.C., Ganesh V.S., Ma J., Ellingford J.M., Delage E., D'Souza E.N., Dong S., Adams D.R., Allan K., Bakshi M., Baldwin E.E., Berger S.I., Bernstein J.A., Bhatnagar I., Blair E., Brown N.J., Burrage L.C., Chapman K., Coman D.J., Compton A.G., Cunningham C.A., D'Souza P., Danecek P., Délot E.C., Dias K.-R., Elias E.R., Elmslie F., Evans C.-A., Ewans L., Ezell K., Fraser J.L., Gallacher L., Genetti C.A., Goriely A., Grant C.L., Haack T., Higgs J.E., Hinch A.G., Hurles M.E., Kuechler A., Lachlan K.L., Lalani S.R., Lecoquierre F., Leitão E., Le Fevre A., Leventer R.J., Liebelt J.E., Lindsay S., Lockhart P.J., Ma A.S., Macnamara E.F., Mansour S., Maurer T.M., Mendez H.R., Metcalfe K., Montgomery S.B., Moosajee M., Nassogne M.-C., Neumann S., O'Donoghue M., O'Leary M., Palmer E.E., Pattani N., Phillips J., Pitsava G., Pysar R., Rehm H.L., Reuter C.M., Revencu N., Riess A., Rius R., Rodan L., Roscioli T., Rosenfeld J.A., Sachdev R., Shaw-Smith C.J., Simons C., Sisodiya S.M., Snell P., St Clair L., Stark Z., Stewart H.S., Tan T.Y., Tan N.B., Temple S.E.L., Thorburn D.R., Tifft C.J., Uebergang E., VanNoy G.E., Vasudevan P., Vilain E., Viskochil D.H., Wedd L., Wheeler M.T., White S.M., Wojcik M., Wolfe L.A., Wolfenson Z., Wright C.F., Xiao C., Zocche D., Rubenstein J., Markenscoff-Papadimitriou E., Fica S.M., Baralle D., Depienne C., MacArthur D.G., Howson J.M.M., Sanders S., O'Donnell-Luria A., Whiffin N.

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