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

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Girirajan S., Rosenfeld J.A., Coe B.P., Parikh S., Friedman N., Goldstein A., Filipink R.A., McConnell J.S., Angle B., Meschino W.S., Nezarati M.M., Asamoah A., Jackson K.E., Gowans G.C., Martin J.A., Carmany E.P., Stockton D.W., Schnur R.E., Penney L.S., Martin D.M., Raskin S., Leppig K., Thiese H., Smith R., Aberg E., Niyazov D.M., Escobar L.F., El-Khechen D., Johnson K.D., Lebel R.R., Siefkas K., Ball S., Shur N., McGuire M., Brasington C.K., Spence J.E., Martin L.S., Clericuzio C., Ballif B.C., Shaffer L.G., Eichler E.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

Zufferey F., Sherr E., Beckmann N.D., Hanson E., Maillard A.M., Hippolyte L., Macé A., Ferrari C., Kutalik Z., Andrieux J., Aylward E., Barker M., Bernier R., Bouquillon S., Conus P., Delobel B., Faucett A., Goin-Kochel R., Grant E., Harewood L., Hunter J., Lebon S., Ledbetter D., Martin C. L., Mannik K., Martinet D., Mukherjee P., Ramocki M.B., Spence S., Steinman K., Tjernagel J., Spiro J., Reymond A., Beckmann J.S., Chung W., Jacquemont S., Simons VIP Consortium, 16p11.2 European Consortium.

Research Highlights
Subscribe to our newsletter and receive SFARI funding announcements and news