Funded Projects
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
SSC-ASC Whole-Genome Sequencing Consortium (project 1): Association testing
Awarded: 2018
Award Type: Research
Award Type: Research
SFARI Funded Publications
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.
Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders.
Lowther C., Valkanas E., Giordano J.L., Wang H.Z., Currall B.B., O'Keefe K., Pierce-Hoffman E., Kurtas N., Whelan C.W., Hao S.P., Weisburd B., Jalili V., Fu J., Wong I., Collins R.L., Zhao X., Austin-Tse C.A., Evangelista E., Lemire G., Aggarwal V.S., Lucente D., Gauthier L.D., Tolonen C., Sahakian N., Stevens C., An J.-Y., Dong S., Norton M.E., MacKenzie T., Devlin B., Gilmore K., Powell B., Brandt A., Vetrini F., DiVito M., Sanders S., MacArthur D.G., Hodge J.C., O'Donnell-Luria A.H., Rehm H.L., Vora N.L., Levy B., Brand H., Wapner R., Talkowski M.
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Fu J.M., Satterstrom F.K., Peng M., Brand H., Collins R.L., Dong S., Wamsley B., Klei L., Wang L., Hao S.P., Stevens C.R., Cusick C., Babadi M., Banks E., Collins B., Dodge S., Gabriel S.B., Gauthier L., Lee S.K., Liang L., Ljungdahl A., Mahjani B., Sloofman L., Smirnov A., Barbosa M., Betancur C., Brusco A., Chung B.H.Y., Cook E. H., Cuccaro M.L., Domenici E., Ferrero G.B., Gargus J.J., Herman G.E., Hertz-Picciotto I., Maciel P., Manoach D., Passos-Bueno M.R., Persico A.M., Renieri A., Sutcliffe J., Tassone F., Trabetti E., Campos G., Cardaropoli S., Carli D., Chan M.C.Y., Fallerini C., Giorgio E., Girardi A.C., Hansen-Kiss E., Lee S.L., Lintas C., Ludena Y., Nguyen R., Pavinato L., Pericak-Vance M., Pessah I.N., Schmidt R. J., Smith M., Souza C.I.S., Trajkova S., Wang J.Y.T., Yu M.H.C., Autism Sequencing Consortium (ASC), Broad Institute Center for Common Disease Genomics (Broad-CCDG), iPSYCH-BROAD Consortium, Cutler D.J., Rubeis S.D., Buxbaum J., Daly M., Devlin B., Roeder K., Sanders S., Talkowski M.