Funded Projects
Defining the cellular and anatomic identity and developmental trajectory of sex-differential subcortical cells and circuits in ASD
Awarded: 2025
Award Type: Sex Differences Collaborations
Award Type: Sex Differences Collaborations
Identification and validation of expression quantitative trait loci (eQTLs) in discrete cell types across human brain development
Awarded: 2021
Award Type: Director
Award Type: Director
Identification and manipulation of splicing variants that contribute to autism
Awarded: 2019
Award Type: Pilot
Award Type: Pilot
SFARI Funded Publications
CRISPR activation for SCN2A-related neurodevelopmental disorders.
Tamura S., Nelson A.D., Spratt P.W.E., Hamada E.C., Zhou X., Kyoung H., Li Z., Arnould C., Barskyi V., Krupkin B., Young K., Zhao J., Holden S.S., Sahagun A., Keeshen C.M., Lu C., Ben-Shalom R., Taloma S.E., Schamiloglu S., Li Y.C., Min L., Jenkins P., Pan J.Q., Paz J.T., Sanders S., Matharu N., Ahituv N., Bender K.
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.