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.

1228 Articles

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

Talkowski M., Mullegama S.V., Rosenfeld J.A., van Bon B.W., Shen Y., Repnikova E.A., Gastier-Foster J., Thrush D.L., Kathiresan S., Ruderfer D.M., Chiang C., Hanscom C., Ernst C., Lindgren A.M., Morton C.C., An Y., Astbury C., Brueton L.A., Lichtenbelt K.D., Ades L.C., Fichera M., Romano C., Innis J.W., Williams C.A., Bartholomew D., Van Allen M.I., Parikh A., Zhang L., Wu B-L., Pyatt R.E., Schwartz S., Shaffer L.G., de Vries B.B., Gusella J., Elsea S.H.

Research Highlights
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