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

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

Jansen S., Hoischen A., Coe B.P., Carvill G.L., Van Esch H., Bosch D.G.M., Andersen U.A., Baker C., Bauters M., Bernier R., van Bon B.W., Claahsen-van der Grinten H.L., Gecz J., Gilissen C., Grillo L., Hackett A., Kleefstra T., Koolen D., Kvarnung M., Larsen M.J., Marcelis C., McKenzie F., Monin M.L., Nava C., Schuurs-Hoeijmakers J.H., Pfundt R., Steehouwer M., Stevens S.J.C., Stumpel C.T., Vansenne F., Vinci M., van de Vorst M., Vries P., Witherspoon K., Veltman J.A., Brunner H.G., Mefford H., Romano C., Vissers L., Eichler E., de Vries B.B.A.

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Research Highlights
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