Chief, Analytic and Translational Genetics Unit, Massachusetts General Hospital
WebsiteFunded Projects
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
Comprehensive follow-up of novel autism genetic discoveries
Awarded: 2007
Award Type: Research
Award Type: Research
SFARI Funded Publications
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.M., Thompson W.K., Carey C.E., Baya N., van der Merwe C., Walters R.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.
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.
Heyne H.O., Baez-Nieto D., Iqbal S., Palmer D.S., Brunklaus A., May P., Epi25 Collaborative, Johannesen K.M., Lauxmann S., Lemke J.R., Møller R.S., Pérez-Palma E., Scholl U.I., Syrbe S., Lerche H., Lal D., Campbell A.J., Wang H.-R., Pan J., Daly M.