Stephan Sanders, B.M.B.S., Ph.D.

Assistant Professor, University of California, San Francisco

SFARI Investigator Website

Stephan Sanders trained as a pediatric physician in the United Kingdom before pursuing a research career in genomics and bioinformatics.

His work has helped characterize the role of de novo mutations in the etiology of autism and identified multiple autism risk loci, including duplications of the 7q11.23 Williams syndrome region (Sanders et al., Neuron, 2011) and mutations in the sodium channel gene SCN2A (Sanders et al., Nature, 2012). His work on the integration of copy number variation and exome data across multiple autism cohorts recently identified 71 autism risk loci (Sanders et al., Neuron, 2015). In addition, he worked as part of a group that integrated spatiotemporal gene expression data from the human brain with these autism-associated genes (Willsey et al., Cell, 2013). This approach has implicated deep-layer glutamatergic neurons in the frontal cortex during mid-fetal development in the causation of autism.

His lab has three main research aims:

1) Understanding the genetic basis of childhood neurodevelopmental conditions, in particular autism;

2) Understanding how these genetic factors lead to the conditions; and

3) Understanding the mechanism that leads to the male bias in autism diagnosis, in particular through identifying the biological basis of the female protective effect.

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Funded Projects

SFARI Funded Publications

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Jin S.C., Homsy J., Zaidi S., Lu Q., Morton S., DePalma S.R., Zeng X., Qi H., Chang W., Sierant M.C., Hung W.C., Haider S., Zhang J., Knight J., Bjornson R.D., Castaldi C., Tikhonoa I.R., Bilguvar K., Mane S.M., Sanders S., Mital S., Russell M.W., Gaynor J.W., Deanfield J., Giardini A., Porter G.A., Jr., Srivastava D., Lo C.W., Shen Y., Watkins W.S., Yandell M., Yost H.J., Tristani-Firouzi M., Newburger J.W., Roberts A.E., Kim R., Zhao H., Kaltman J.R., Goldmuntz E., Chung W., Seidman J.G., Gelb B.D., Seidman C.E., Lifton R., Brueckner M.
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