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

Professor, University of California, San Francisco

SFARI Investigator, SFARI Scientific Review Board Website

John Rubenstein is a professor in the Department of Psychiatry at the University of California, San Francisco. He also serves as a Nina Ireland Distinguished Professor in Child Psychiatry at the Nina Ireland Laboratory of Developmental Neurobiology. His research focuses on the regulatory genes that orchestrate development of the forebrain, the portion of the neural tube where primitive cells are organized to form the cerebral cortex, the basal ganglia and other components of the adult brain, which are most involved in key functions such as speech, language, cognition and fine motor skills.

Rubenstein’s lab has demonstrated the role of specific genes in regulating neuronal specification, differentiation, migration and axon growth during embryonic development and on through adult life. His work may help to explain some of the mechanisms underlying human neurodevelopmental disorders such as autism.

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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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