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.

2108 Articles

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.

Teunissen M.A., Lewerissa E., van Hugte E.J.H., Wang S., Ockeloen C.W., Koolen D.A., Pfundt R., Marcelis C.LM., Brilstra E., Howe J.L., Scherer S. W., Le Guillou X., Bilan F., Primiano M., Roohi J., Piton A., de Saint Martin A., Baer S., Seiffert S., Platzer K., Jamra R.A., Syrbe S., Doering J.H., Lakhani S., Nangia S., Gilssen C., Vermeulen R.J., Rouhl R.P.W., Brunner H.G., Willemsen M.H., Kasri N. N.

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Research Highlights
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