Chief, Analytic and Translational Genetics Unit, Massachusetts General Hospital
WebsiteFunded Projects
Identification of protein interaction interfaces disrupted in autism through structural analysis of exome-sequencing data
Awarded: 2025
Award Type: Data Analysis
Award Type: Data Analysis
SPARKing a global gene discovery effort in autism: Analysis of single nucleotide variants and indels
Awarded: 2018
Award Type: Targeted: Genomic Analysis for Autism Risk Variants in SPARK
Award Type: Targeted: Genomic Analysis for Autism Risk Variants in SPARK
Accelerating autism genetics via whole-population ascertainment in Denmark
Awarded: 2013
Award Type: Research
Award Type: Research
SFARI Funded Publications
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.
Avila M.N., Jung S., Satterstrom F.K., Fu J.M., Levy T., Sloofman L.G., Klei L., Pichardo T., Stevens C.R., Cusick C.M., Ames J.L., Campos G.S., Cerros H., Chaskel R., Costa C.I.S., Cuccaro M.L., Del Pilar Lopez A., Fernandez M., Ferro E., Galeano L., Girardi A.C.D.E.S., Griswold A.J., Hernandez L.C., Lourenço N., Ludena Y., Nuñez D.L., Oyama R., Peña K.P., Pessah I., Schmidt R., Sweeney H.M., Tolentino L., Wang J.Y.T., Albores-Gallo L., Croen L.A., Cruz-Fuentes C.S., Hertz-Picciotto I., Kolevzon A., Lattig M.C., Mayo L., Passos-Bueno M.R., Pericak-Vance M.A., Siper P.M., Tassone F., Trelles M.P., Autism Sequencing Consortium, Talkowski M., Daly M., Mahjani B., De Rubeis S., Cook E. H., Roeder K., Betancur C., Devlin B., Buxbaum J.
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.
The female protective effect against autism spectrum disorder.
Wigdor E.M., Weiner D.J., Grove J., Fu J., Thompson W.K., Satterstrom F.K., Palmer D.S., Rosengren A., Bybjerg-Grauholm J., iPSYCH Consortium, Hougaard D.M., Mortensen P.B., Daly M., Talkowski M., Sanders S., Bishop S., Børglum A.D., Robinson E.