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.

1427 Articles

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

Klöckner C., Sticht H., Zacher P., Popp B., Babcock H.E., Bakker D.P., Barwick K., Bonfert M.V., Bönnemann C.G., Brilstra E.H., Care4Rare Canada Consortium, Chung W.K., Clarke A.J., Devine P., Donkervoort S., Fraser J.L., Friedman J., Gates A., Ghoumid J., Hobson E., Horvath G., Keller-Ramey J., Keren B., Kurian M.A., Lee V., Leppig K.A., Lundgren J., McDonald M.T., McTague A., Mefford H.C., Mignot C., Mikati M.A., Nava C., Raymond F.L., Sampson J.R., Sanchis-Juan A., Shashi V., Shieh J.T.C., Shinawi M., Slavotinek A., Stödberg T., Stong N., Sullivan J.A., Taylor A.C., Toler T.L., van den Boogaard M.-J., van der Crabben S.N., van Gassen K.L.I., van Jaarsveld R.H., Van Ziffle J., Wadley A.F., Wagner M., Wigby K., Wortmann S.B., Zarate Y.A., Møller R.S., Lemke J.R., Platzer K.

Missense variant contribution to USP9X-female syndrome.

Jolly L.A., Parnell E., Gardner A.E., Corbett M.A., Pérez-Jurado L.A., Shaw M., Lesca G., Keegan C., Schneider M.C., Griffin E., Maier F., Kiss C., Guerin A., Crosby K., Rosenbaum K., Tanpaiboon P., Whalen S., Keren B., McCarrier J., Basel D., Sadedin S., White S.M., Delatycki M.B., Kleefstra T., Küry S., Brusco A., Sukarova-Angelovska E., Trajkova S., Yoon S., Wood S.A., Piper M., Penzes P., Gecz J.

Research Highlights
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