John Rubenstein, M.D., Ph.D.

Professor, University of California, San Francisco

SFARI Investigator, SFARI Scientific Review Board Website

John Rubenstein is a professor at the University of California, San Francisco. The goal of his laboratory’s research is to elucidate fundamental mechanisms that regulate development of the forebrain, with a focus on the cerebral cortex and basal ganglia. The studies in his laboratory also extend into other regions of the embryo, including the developing face. Whenever possible, Rubenstein attempts to investigate whether disruption of these mechanisms underlie human disorders, such as autism, schizophrenia, intellectual disability, epilepsy and craniofacial disorders. The overarching hope is that these studies provide insights and new inroads into diagnosis, prevention and treatment of these disorders.

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Funded Projects

SFARI Funded Publications

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. An J.Y., Lin K., Zhu L., Werling D., Dong S., Brand H., Wang H.Z., Zhao X., Schwartz G.B., Collins R.L., Currall B.B., Dastmalchi C., Dea J., Duhn C., Gilson M.C., Klei L., Liang L., Markenscoff-Papadimitriou E., Pochareddy S., Ahituv N., Buxbaum J., Coon H., Daly M., Kim Y.S., Marth G., Neale B.M., Quinlan A., Rubenstein J., Sestan N., State M., Willsey A. J., Talkowski M., Devlin B., Roeder K., Sanders S.
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Werling D., Brand H., An J.Y., Stone M.R., Zhu L., Glessner J.T., Collins R.L., Dong S., Layer R.M., Markenscoff-Papadimitriou E., Farrell A., Schwartz G.B., Wang H.Z., Currall B.B., Zhao X., Dea J., Duhn C., Erdman C.A., Gilson M.C., Yadav R., Handsaker R.E., Kashin S., Klei L., Mandell J.D., Nowakowski T., Liu Y., Pochareddy S., Smith L., Walker M.F., Waterman M.J., He X., Kriegstein A., Rubenstein J., Sestan N., McCarroll S., Neale B.M., Coon H., Willsey A. J., Buxbaum J., Daly M., State M., Quinlan A., Marth G., Roeder K., Devlin B., Talkowski M., Sanders S.
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