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

Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly.

Chai G., Webb A., Li C., Antaki D., Lee S., Breuss M.W., Lang N., Stanley V., Anzenberg P., Yang X., Marshall T., Gaffney P., Wierenga K.J., Chung B.H., Tsang M.H., Pais L.S., Lovgren A.K., VanNoy G.E., Rehm H.L., Mirzaa G., Leon E., Diaz J., Neumann A., Kalverda A.P., Manfield I.W., Parry D.A., Logan C.V., Johnson C.A., Bonthron D.T., Valleley E.M.A., Issa M.Y., Abdel-Ghafar S.F., Abdel-Hamid M.S., Jennings P., Zaki M.S., Sheridan E., Gleeson J.

Research Highlights
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