

Associate Professor, Massachusetts General Hospital
WebsiteFunded Projects
SSC-ASC Whole-Genome Sequencing Consortium (project 3): Discovery and functional characterization of structural variation in autism
Awarded: 2018
Award Type: Research
Award Type: Research
SPARKing a global gene discovery effort in ASD: Analysis of structural variation
Awarded: 2018
Award Type: Targeted: Genomic Analysis for Autism Risk Variants in SPARK
Award Type: Targeted: Genomic Analysis for Autism Risk Variants in SPARK
Integrating large-scale whole-exome data with whole-genome data
Awarded: 2015
Award Type: Targeted: Whole-Genome Analysis for Autism Risk Variants
Award Type: Targeted: Whole-Genome Analysis for Autism Risk Variants
SFARI Funded Publications
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families.
Belyeu J.R., Brand H., Wang H., Zhao X., Pedersen B.S., Feusier J., Gupta M., Nicholas T.J., Brown J., Baird L., Devlin B., Sanders S., Jorde L.B., Talkowski M., Quinlan A.
A cross-disorder dosage sensitivity map of the human genome.
Collins R.L., Glessner J.T., Porcu E., Niestroj L.-M., Ulirsch J., Kellaris G., Howrigan D.P., Everett S., Mohajeri K., Nuttle X., Lowther C., Fu J., Boone P.M., Ullah F., Samocha K.E., Karczewski K., Lucente D., Epi25 Consortium, Gusella J., Finucane H., Matyakhina L., Aradhya S., Meck J., Lal D., Neale B., Hodge J.C., Reymond A., Kutalik Z., Katsanis N., Davis E.E., Hakonarson H., Sunyaev S., Brand H., Talkowski M.
Identifying cell type specific driver genes in autism-associated copy number loci from cerebral organoids.
Lim E.T., Chan Y., Burns M.J., Guo X., Erdin S., Tai D.J.C., Reichert J.M., Chan Y.K., Chiang J.J., Meyers K., Zhang X., Walsh C., Yankner B.A., Raychaudhuri S., Hirschhorn J.N., Gusella J., Talkowski M., Church G.