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

Professor, University of Oxford

SFARI Investigator Website

Stephan Sanders is professor of paediatric neurogenetics in the Department of Paediatrics at the University of Oxford, a faculty member at the University of California, San Francisco (UCSF) and an associate member of the New York Genome Center. He trained as a pediatrician before undertaking a Ph.D. and postdoctoral studies in genetics at Yale University in Matthew State’s laboratory. In 2014, he started his lab at UCSF before moving to Oxford in 2022. His group specializes in the genetics of neurodevelopmental conditions, including genomics, functional genomics and therapeutics. Sanders is a leader of the Autism Sequencing Consortium, the BrainVar Project and a SFARI autism sex-bias project.

Funded Projects

Identification and validation of expression quantitative trait loci (eQTLs) in discrete cell types across human brain development

Awarded: 2021
Award Type: Director

Identification and manipulation of splicing variants that contribute to autism

Awarded: 2019
Award Type: Pilot

SSC-ASC Whole-Genome Sequencing Consortium (project 1): Association testing

Awarded: 2018
Award Type: Research

SFARI Funded Publications

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Chen Y., Dawes R., Kim H.C., Ljungdahl A., Stenton S.L., Walker S., Lord J., Lemire G., Martin-Geary A.C., Ganesh V.S., Ma J., Ellingford J.M., Delage E., D'Souza E.N., Dong S., Adams D.R., Allan K., Bakshi M., Baldwin E.E., Berger S.I., Bernstein J.A., Bhatnagar I., Blair E., Brown N.J., Burrage L.C., Chapman K., Coman D.J., Compton A.G., Cunningham C.A., D'Souza P., Danecek P., Délot E.C., Dias K.-R., Elias E.R., Elmslie F., Evans C.-A., Ewans L., Ezell K., Fraser J.L., Gallacher L., Genetti C.A., Goriely A., Grant C.L., Haack T., Higgs J.E., Hinch A.G., Hurles M.E., Kuechler A., Lachlan K.L., Lalani S.R., Lecoquierre F., Leitão E., Le Fevre A., Leventer R.J., Liebelt J.E., Lindsay S., Lockhart P.J., Ma A.S., Macnamara E.F., Mansour S., Maurer T.M., Mendez H.R., Metcalfe K., Montgomery S.B., Moosajee M., Nassogne M.-C., Neumann S., O'Donoghue M., O'Leary M., Palmer E.E., Pattani N., Phillips J., Pitsava G., Pysar R., Rehm H.L., Reuter C.M., Revencu N., Riess A., Rius R., Rodan L., Roscioli T., Rosenfeld J.A., Sachdev R., Shaw-Smith C.J., Simons C., Sisodiya S.M., Snell P., St Clair L., Stark Z., Stewart H.S., Tan T.Y., Tan N.B., Temple S.E.L., Thorburn D.R., Tifft C.J., Uebergang E., VanNoy G.E., Vasudevan P., Vilain E., Viskochil D.H., Wedd L., Wheeler M.T., White S.M., Wojcik M., Wolfe L.A., Wolfenson Z., Wright C.F., Xiao C., Zocche D., Rubenstein J., Markenscoff-Papadimitriou E., Fica S.M., Baralle D., Depienne C., MacArthur D.G., Howson J.M.M., Sanders S., O'Donnell-Luria A., Whiffin N.

CWAS-Plus: estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data. Kim Y., Jeong M., Koh I.G., Kim C., Lee H., Kim J.H., Yurko R., Kim I.B., Park J., Werling D., Sanders S., An J.-Y.

Cre-dependent massively parallel reporter assay allows for cell-type specific assessment of the functional effects of genetic variants in vivo. Lagunas Jr. T., Plassmeyer S.P., Fischer A.D., Friedman R.Z., Rieger M.A., Selmanovic D., Sarafinovska S., Sol Y.K., Kasper M.J., Fass S.B., Aguilar Lucero A.F., An J.-Y., Sanders S., Cohen B.A., Dougherty J.